Feb 29, 2024

White House Rare Disease Forum

White House Rare Disease Forum On Stage
RevBlogTranscriptsRare Disease ForumWhite House Rare Disease Forum

The White House hosts the Rare Disease Forum. Read the transcript here.

Erica Kimmerling (00:00):

Good evening, everyone. My name is Erica Kimmerling and I am the assistant director for community driven health here at the White House Office of Science and Technology Policy, or OSTP. Thank you so much for joining us today, both in the room and via the livestream for the White House Rare Disease Forum. To begin our program, it is my pleasure to introduce Dr. Danielle Carnival, deputy assistant to the President for the Cancer Moonshot and Deputy Director for Health Outcomes in OSTP.

Danielle Carnival (00:36):

Thank you, Erica. Thank you, everyone. Welcome to the White House. I will add my thank you to everyone who is joining here today for the White House Rare Disease Forum in the room and online. You will likely hear many statistics today that demonstrate the wide reaching impact of rare diseases on 30 million American families a year. While each rare disease may impact a small percentage of people living in the United States, we all know and want everyone else to know that the collective impact is that one in 10 will likely be diagnosed with a rare disease.

It is likely that everyone knows someone who is impacted by one of those diagnoses. Today, we celebrate the triumphs and progress. We learn from the experiences and expertise of those living with a rare disease, and we face head on the many challenges that still remain. Namely, to name just a few: to shorten the time to accurate diagnosis, to reach more people with the tools we already have to diagnose and treat some rare diseases, and to drive new discovery and development of effective therapies.

Because of incredible investments by individuals and organizations and by the federal government, especially with leadership from the National Institute of Health, particularly the National Center for Advancing Translational Sciences, or NCATS, we have so many of the tools we need today to realize that future, but it is going to take additional awareness, investment, and collaboration to deliver on the hope of so many Americans.

While I look forward to hearing the stories of inspiration and progress, we must recognize also that there are too many members of this community that aren’t here today. Just last week, we lost a giant in supporting rare disease progress, Mark Labs, who was invited to speak here today. And too many others that couldn’t make the trip in person due to their health challenges. These individuals highlight the urgency we need to apply to speeding progress and support for everyone facing a rare disease. Not just to keep them on this earth longer, but to improve the life they’re able to experience and to improve their ability to share their many talents with the world.

I feel a great deal of privilege to host this forum today to learn, be inspired, and move to action. And so to kick us off, I’m thrilled to turn the mic over to Nasha Fitter, an entrepreneur who turned those talents to the rare disease space when her daughter Amara was diagnosed. Nasha is co-founder of the FOXG1 Research Foundation aimed at utilizing real world data to accelerate treatments, and co-founder and chief business officer at Citizen, a patient-directed healthcare platform for rare and complex diseases. Nasha.

Nasha Fitter (03:33):

Thank you so much. And thank you for the opportunity to speak today. I’m Nasha Fitter. My daughter Amara is eight years old and suffers from FOXG1 syndrome, which is an ultra-rare genetic brain disease. And today I’m here representing her as well as the 15 million rare disease children like her living in the United States today.

I’d first like to talk to you about life as a parent and caregiver, and then next about radical funding changes required to support drug development uniquely led by patient advocacy groups.

So let’s start with life is a parent and caregiver. Like others in my position, I have multiple roles. I am a parent to three amazing children. I’m a caregiver to Amara. I lead our patient advocacy group, and I co-founded and co-lead a technology company aimed at disrupting the way we do natural history studies.

Amara is considered ultra-rare. She is one of just 1,000 people in the world that we know of with FOXG1 syndrome. Most of our FOXG1 kids are in wheelchairs. They eat with a feeding tube, they’re on a plethora of severe medications. They are in and out of the emergency room and the majority are completely nonverbal. I’m sure all of you have heard stories like this, sad stories like this, and I know everyone in this room empathizes. But what is harder to appreciate is the devastating impact on families. This is because most of us don’t see these families. Rare disease families are often confined to their home. Imagine living under COVID-like restrictions forever. Many families speak of surviving those early infant and toddler years.

Now imagine if that was your whole life. Never getting a good night’s sleep, never understanding why is my child relentlessly screaming and crying? Families get shunned by friends, siblings don’t bring their friends over. It’s hard to explain why older brother just smacked mom in the face, or why younger sister is frothing at the mouth. Family vacations are a distant dream and many of us don’t sleep in the same room as our spouses, as one of us always has to sleep with our child. This burden and hardship ripples through so many lives. 15 million rare disease children, 30 million rare disease patients, and close to 90 to 100 million rare disease family members. Rare disease is not a rare issue. Now that I’ve given some context on the lived experience, I’d like to move to the importance of supporting patient advocacy groups to radically accelerate drug development. Of course, it comes down to funding, but mostly it’s about who gets access to funding. Currently, the majority of government funding is directed towards academic research. This is important work. Critically, though, pharma consistently tells us our programs must be de-risked before they take them on.

This is the fundamental role of patient advocacy groups like the one I lead. We literally exist to conduct preclinical research and de-risk our diseases to maximize the likelihood of pharma taking them on. Yet today, we have access to absolutely no government funding.

Let’s take the FOXG1 Research Foundation. As a case in point, from not having any understanding of our disease, we have become the most efficient preclinical drug developers of our condition. We brought together leading scientists, created a robust natural history study, conducted preclinical research, developed a gene therapy compound. All of this within seven years through self raised funds. We did not have access or even the opportunity to apply to a single government grant. And despite our success in de-risking our disease, no pharma savior has arrived to take our program forward to a phase one-two clinical trial. So once again, we’re out raising funds with no government assistance.

In closing, let me distill my message into three points. First, rare disease is not a niche problem. They impact the lives of one in four Americans and this is a public crisis. Second, patient advocacy groups have become very efficient drug developers. We urgently need access to funding mechanisms to take our programs to phase one-two clinical trials. Third, existing and new incentives for pharma to take on rare diseases must continue. Most rare disease parents have no illusion of a total cure, but incremental improvements could mean the world for my husband and I, that could be our daughter just being able to say one word, help, because that one word could save her from abuse when we are no longer alive.

Thank you for your attention and for the considering the profound impact your decisions could have on millions of American lives.

Erica Kimmerling (08:44):

Thank you Nasha for sharing part of your story for us today, and for providing that insight into the lived experience of so many families in the rare disease community. And for highlighting the importance of patient advocacy organizations to driving progress in scientific and technical progress.

It is now my honor to introduce Dr. Monica Bertagnolli, the director of the National Institutes of Health, to discuss the administration’s efforts to continue to drive scientific progress.

Dr. Monica Bertagnolli (09:20):

Well, thank you so much. It is such an incredible honor to be here today and I am just thrilled to be able to speak to you for a bit. On behalf of NIH, I want to join our hosts in welcoming you all to the 2024 Rare Disease Meeting here at the White House. In particular, I’d like to recognize some people who’ve really worked at the National Center for Advancing Translational Sciences in the NIH Clinical Center, to help make the programs possible that you will see at the NIH. And that is obviously Dr. Joni Rudder, Dr. Jim Gilman. Dr. Rudder, the head of NCATS, Dr. Gilman, the head of the NIH Clinical Center. And also I’d like to recognize Dr. Dominique Picard who leads the NCATS Division of Rare Diseases Research Innovation. And Dr. Alice Chan Mihaw and Ansley Tisdale for their tireless work in planning and coordinating this event for all of us. I also want to acknowledge the co-chairs of the Rare Disease Congressional Caucus who have graciously, who will provide video statements for the event tomorrow.

As you probably all know, rare diseases are not rare. We’ve already heard this. More than 10,000 rare diseases together. They affect so many of us. People with rare diseases often struggle for years to just even receive an accurate diagnosis, and when they finally do they find there are very few treatments available.

A longstanding problem is that we aren’t very good at tracking rare diseases. Many are too rare as we’ve just heard, even to have a code that identifies them in the medical record so that we could find them even if we could search them.

At NIH, we are committed to taking on the challenges of rare diseases. One of our guiding principles at NIH when it comes to our research is that we believe in nothing about us without us as our response to the lived experience community. It is absolutely critical that we include affected individuals in all of our research, in our research planning, in our research strategy and in our research goals. You will hear stories where patient advocacy played a critical role in research progress and one way at NIH we engage with the patient community is through the Rare Diseases Clinical Research Network.

NIH also helps support the Accelerating Medicines Partnership, Bespoke Gene Therapy Consortium. This public-private partnership is currently working to advance gene therapy for eight rare diseases. We envision this expanding dramatically, but not just gene therapy, all types of therapy.

Equity is a theme of Rare Disease Day in 2024 nationally, and this is also a theme at NIH. We have a commitment to advancing equity, inclusion, accessibility across all biomedical science. Another community that deserves equity and inclusion and respect is the rare disease community and we truly understand this.

I just want to end by saying that our principle at NIH is that we not only discover new treatments and make them widely available, we are also not just the science, we are dedicated to improving access and availability for future treatments and diagnostics for all people. Our work at NIH is not finished when we deliver scientific discoveries. Our work is only finished when all people are living long and healthy lives.

It seems like such a tremendous hurdle to get to that for beautiful children like we’ve just heard. But that has to be our goal. Nothing less can ever be our goal. Making this commitment, working together, scientists, patients, advocates, caregivers, both public dollars and private investment I believe is the path forward. And so I just want to end by thanking all of you for being here to work with us to advance these causes. Thank you so much.

Erica Kimmerling (14:44):

Thank you, Dr. Bertagnolli.

It’s now my privilege to introduce Dr. Renee Wegrzyn, the director of the Advanced Research Projects Agency for Health, or ARPAH, for an announcement about one of the administration’s efforts to accelerate progress on rare diseases.

Dr. Renee Wegrzyn (15:11):

Good afternoon. Thank you Monica, Dr. Bertagnolli for your leadership and your tireless advocacy for rare disease. I really want to especially thank Jodie Rudder. There you are, Jodie, you and your whole team at NCATS. Your work with a biomedical data translator program really helps set the stage for that foundational demonstration that we actually can improve data quality interoperability to really help demonstrate the progress in rare disease. That really served as some of the initial sparks for us and some of the things that we’re going to talk about today.

Nasha, David, thank you for the past year, really being open to conversations with the federal government. Your tireless advocacy, your commitment, your grit also gives us guidance to where we can be actionable as a federal government as well. So keep it up Nasha too. There’s a path forward.

And then finally, what an honor for us today to be at the White House with the team at OSTP who’ve been such great partners in really helping stand up ARPAH of course, and demonstrate what we can do as an agency.

So, why ARPAH and why rare disease? Our mission is to accelerate better health outcomes for everyone. And when President Biden set us up in March of 2022, he did so by calling on the unique business model that DARPA, the Defense Advanced Research Projects Agency, first pioneered. If you haven’t heard of ARPAH or you haven’t heard of DARPA, I’m going to guess you’ve heard of the internet, stealth technology. What you might not know is that some of those really early investments in those capabilities came from a government agency, came from an ARPA. And so as an ARPA for health, we’re here to move swiftly and with a bias for action to really break down some of the hardest problems in health into technically addressable challenges that we can take as transactions and projects in a very ultra focused way in our agency.

In our agency, really, we intend to do this and take on some of the things that are too risky for the private sector to take on. Too risky for other parts of the federal government to take on that can’t be translated through traditional commercial activity. So as such, it actually makes ARPAH particularly suited for exploring some of the underfunded areas in rare disease and orphan diseases, where our innovative thinking and bold experimentation and activating this community is really essential as an ingredient for our success.

And importantly, while our model is agnostic to diseases and technologies, we seek out those opportunities where our investment will asymmetrically advance the state of the art. We’re also not afraid to take the entire journey from research development to commercialization to get it out into the lab. We know one of the biggest barriers for innovation is actually getting it out of the lab and into the real world and we’re not afraid to take on that challenge.

And so today, building on the foundational work that was done by NCATS, we’re going to take a calculated leap and explore new discoveries and technologies that enable the creation of a scalable platform for disease and drug data that can serve all patients, especially those in the rare disease space.

By de-risking these advancements, we pave the way for downstream investors to participate in grow funding and progress in time for rare disease using this platform and scaling to meet doctors, patients, and caregivers wherever they are.

Today, we’re announcing that ARPAH is allocating $48 million to Every Cure in support of the development and the scale of this ambitious drug repurposing platform, with a potential for additional funds to validate the most promising drug disease matches in clinical trials. The effort, called MATREX, is ML-AI Aided Therapeutic Repurposing and Extended Uses. I haven’t memorized that one yet. And intends to build a machine learning platform to rapidly pinpoint and validate existing medications that can treat diseases where there currently are no therapies. Our investment in the Every Cure platform is intended to significantly accelerate this capability, get it into the real world, and catalyze the entire health ecosystem to meet the urgency and priority that all of you feel in this room.

So on that note, it’s my pleasure to introduce you to someone who’s not only has a very personal connection to rare disease, but a very technical and practical plan to address rare disease around data, AI and drug repurposing that has a potential to enhance health outcomes in quality of life for those living with rare disease today. David Fajgenbaum is an MD immunologist, the founding director of the Center for Cytokine Storm treatment in the laboratory at the University of Pennsylvania, co-founder of Every Cure, a tireless advocate for rare and orphan diseases, and now a performer on our first ARPAH award targeting rare diseases. Over to you, David.

David Fajgenbaum (20:11):

Wow. Thank you so much Dr. Wegrzyn and the entire Biden-Harris administration for your leadership in promoting the nation’s health and for sharing this exciting news. We are so thrilled to be partnering with you on this mission. Dr. Wegrzyn, I am so thankful that ARPAH exists to fill the gaps in our biomedical system that has amazingly delivered 3,000 approved drugs for 3,000 diseases.

But we know that the system hasn’t worked for everyone, especially for rare diseases and for disadvantaged populations. In fact, there are still more than 9,000 diseases that don’t single approved therapy affecting tens of millions of Americans. So one in 10 of all of us, and actually more than that in this room either has or will develop a disease without a single approved therapy. And at the same time, there are many approved drugs that could potentially be repurposed to treat many of the diseases without therapies.

So, our systems-altering approach is harnessing AI to find the most promising new uses of these existing medicines regardless of what their initial purpose was. At the end of this ARPAH project, we will deliver to the world a fully formed solution that’s able to rank every single repurposing opportunity and to advance the leading matches through clinical trials to help patients as rapidly as possible for decades to come.

This collaboration shows the federal government at its best and highlights the ability of ARPAH to take big shots on goal. Together with all of your support, we will save the lives of patients who currently have no treatments and little hope.

I know the potential for this because it saved my life. I was training to become a physician in memory of my mom when I became critically ill with a rare disease called Castleman Disease. I was read my last rights and said goodbye to my family and friends. When my doctors came into the room and told me, “David, we’ve tried everything. There’s nothing more that we can do.” A combination of seven chemotherapies saved my life somehow, but I would continue to relapse.

Then I discovered an existing drug for another disease and I began repurposing it on myself. It had been around for decades at the local pharmacy, but had never been used before for my disease. And after nearly dying five times in three years, last month, I celebrated 10 years of permission on this drug. Thank you.

During this remission, I married the love of my life, Caitlin, had two beautiful children, wrote a book about my journey chasing my cure, and I joined the faculty at the University of Pennsylvania to continue to chase cures. Since then, we’ve advanced 16 repurposed drugs for diseases that they were not intended for and we’re moving them towards widespread use.

These patients on the screen and thousands of others are alive today because of cures we uncovered that were hiding in plain sight. Patients like Kyla, who was hospitalized in critical condition for an entire year before we used AI to unlock a new use of an existing drug. It saved her life and we’re now studying that drug in a clinical trial. She’s getting ready for nursing school this fall and she’s here with us today. And Michael, who was diagnosed with a rare cancer and given three months to live before we uncovered data that was sitting in a medical journal for three years before we began to repurpose a drug based on that research. Michael’s been in remission for over seven years, and this treatment is now used as standard of care across this type of cancer. How many more treatments are waiting to be uncovered to save patients’ lives just like these that we have to date? Though repurposing is much faster and less expensive

David Fajgenbaum (24:00):

… to the new drug development. Three systemic barriers have gotten in the way of achieving this potential. First, there’s no comprehensive database or scoring system of all drug repurposing opportunities. Second, companies aren’t incentivized to repurpose drugs, especially for rare diseases and the 80% of drugs that are already generic. And third, no organization or federal agency is responsible for ensuring that every FDA approved drug is utilized for every disease that it can possibly treat. I co-founded Every Cure with Grant Mitchell and Tracey Sikora to overcome these major barriers and unlock hidden cures. And now with the support of ARPA-H, Every Cure will be able to scale our impact across all drugs and all diseases that can possibly be treated. Harnessing the expansive data infrastructure created by NCATS Biomedical Data Translator, we’re combining public, private, and government data sources to build the world’s most comprehensive database, specifically for drug repurposing.

Then we apply AI algorithms to generate predictive scores for the likelihood of each of the 3,000 approved drugs to treat each human disease possible. We’ve already generated preliminary scores for each of these possibilities. Thanks to a partnership with NCATS, the Chan Zuckerberg Initiative, Elevate Prize and Lyda Hill Philanthropies. And while drug repurposing has been done for years for one drug or one disease at a time, this is the first effort to look systematically across all drugs and all diseases to find the lifesaving treatments hiding in plain sight. Now we’ll develop new algorithms, refined scores, and share them publicly, including through an interactive heat map of all drug disease scores. We hope you all will utilize these resources for your disease and share data and insights with us to continue to refine our scores and our system.

But we aren’t stopping at generating computational scores and tools. We’re also advancing the most promising opportunities to laboratory studies and to clinical trials. Thanks to this partnership with ARPA-H, we have an incredible opportunity in front of us to save lives like Kyla’s and Michael’s and to scale our impact in ways that we never could have imagined. But we can’t do it alone, and we need all of you to join us on this collective mission by contributing, repurposing ideas and data or collaborating with us to advance promising opportunities. Together we will make sure that no patient is ever told we’ve tried everything when there’s a lifesaving cure sitting on their neighborhood pharmacy shelf. Thank you all so, so much.

Erica Kimmerling (26:36):

Thank you both. We are so excited to follow the work that you are doing together. It is now my privilege to turn to some prerecorded remarks from Emily Kramer-Golinkoff, co-founder of Emily’s Entourage.

Emily Kramer-Golinkoff (26:58):

Hi everyone. My name is Emily Kramer-Golinkoff. I’m the co-founder of Emily’s Entourage, a nonprofit organization that speeds lifesaving research and drug development for those with rare forms of cystic fibrosis that don’t benefit from current mutation targeted therapies. I’m also a person living with advanced stage cystic fibrosis. I’d like to thank Danielle Carnival and Erica Kimberlink for inviting me to participate today. For those of you who aren’t familiar, cystic fibrosis or CF for short, is a fatal genetic disease that primarily affects the lungs and the digestive system. There are new lifesaving mutation targeted therapies that have radically changed the lives of 90% of the CF population. But me and others like me, we have rare mutations of cystic fibrosis. We belong to the outlying 10%. None of the breakthroughs are for us. You may be wondering why I’m joining you by video today. I’ve been living in strict isolation since March of 2020.

Catching COVID or any respiratory virus could be catastrophic given the advanced stages of my CF. And so you do what you have to do. And that’s actually a perfect segue to what brings me here today. President Biden and his administration talk about America being the only nation defined by the word possibilities. And yet, for so many of us with rare diseases, our lives have been disrupted, our futures ripped away. We feel scared, alone, forgotten, and devoid of hope, anything but filled with possibility. Our lives depend on therapeutic development that allows us to live longer and live better and perhaps most importantly, that happens fast. Because for so many of us, time equals lives. We do not have the time to wait. Fast drug development for rare and ultra-rare populations requires innovative funding mechanisms and clinical trial designs, regulatory flexibility and close multi-stakeholder collaboration among researchers, clinicians, industry regulators, and payers with leadership from people with rare diseases and their families.

Because after all, nobody has a bigger vested interest in the outcomes of this work than those of us whose lives depend on them. That is what groups like Emily’s Entourage exist to do, to be the hub that brings everyone together and that drives forward end-to-end solutions to deliver lifesaving breakthroughs and possibilities to people with rare and ultra-rare diseases whose lives depend on them and to do it fast. We are in the business of creating possibilities where there are none. To date, we’ve awarded 36 research grants and secured over $42.8 million in follow on funding. We deployed a venture philanthropy model to spin out a now acquired CF gene therapy company. We’ve advanced five other projects to clinical stage and developed 14 bacteria phages to treat antibiotic resistant infections. And we’ve launched a patient registry and a clinical trial recruitment program to expedite clinical trial enrollment. We are working with our heart and our souls for everyone in the final 10% of the CF community because all of us, even those with rare mutations, we deserve hope for a future filled with possibility. And so with that, I’d like to thank you for including me in this wonderful event and applaud every single one of you who so courageously and effectively use your voice to push for desperately needed change. Together we are doing this. Thank you.

Erica Kimmerling (31:03):

Thank you, Emily, for all of your work and for so clearly underlining what is at stake in the urgency of the moment. To close out our opening session, it is now my pleasure to introduce Dr. Arati Prabhakar, assistant to the President for Science and Technology and director of the White House Office of Science and Technology Policy.

Dr. Arati Prabhakar (31:33):

Hello, I am so happy to welcome all of you to the White House and those of you who are here virtually, thank you so much for joining us. I was so happy when my health outcomes team, Danielle and all of her crowds started telling me about this meeting. I think it’s so important to get all of you together and to have this conversation. So thank you so much for showing up. Thank you for the work that you’re doing and the progress that it’s delivering. And even more important than that to me, the reason that it really matters is when hope happens with the progress that we make, that allows us to keep going and I think you all are just really making a difference with that.

So this term rare diseases of course sounds like it doesn’t happen very often, but as this room knows very well, one in 10 Americans is dealing with a rare disease and so it’s actually way too common a problem. And we know that we’ve got our work cut out for us. I heard the last couple of presentations and I think they point to how hard this problem is, but also the actual progress that is being made and the fact that we can move forward. And when I think about rare diseases in the bigger context of American health outcomes, we have a lot of work to do to get American health outcomes to the place that they need to be today. The particular burden that falls on an individual and a family that is dealing with rare diseases, even the uncertainty of not even knowing what you have going on often for a very extended period, then followed by an uncertainty about what do you do about it. This particular kind of burden that comes with these diseases is something that I know weighs heavily on everyone here and your families.

This is what we’ve got to get after and we’re starting to make some important progress. It’s really fun to be here today with Dr. Bertagnolli and with Dr. Wegrzyn. Monica is a person who doesn’t think the job is done until people’s lives are better. And that’s critically important. Renee and I got to work together at DARPA when President Biden appointed her to lead this new agency that he had started, ARPA-H. He talked about how she would bring the legendary DARPA attitude, which takes no prisoners and doesn’t take no for an answer and breaks things and gets a lot of big things done. And I saw that firsthand with Renee. And I think you have here two amazing leaders, a long history and such a rich set of activities that go on at NIH and now this supercharging with ARPA-H. So that gives me also a tremendous amount of hope.

So the example that we just heard today about using artificial intelligence, this is the kind of thing that can be an accelerator. And if you think about where we are today, think about all the puzzle pieces that we already have. Of course, AI to repurpose drugs, I think that’s such a huge opportunity. But thinking about how long have we been hearing about how we’re going to tap the insights in data and solve health problems, my hair was still black the first time I heard that. So that is a dream still to be achieved and I think we’re in a moment where we can put the data together. We’re starting to do that, breaking down the barriers and finding very powerful tools to actually use it and to combine all kinds of data, genetic data and clinical data, environmental data, all the pieces that we’re really going to need.

We have cellular and gene therapies that we have never had before, and they are starting to become real. We’re just starting to unlock all of those possibilities. We’re starting to think about clinical trials in new ways that can be very, very promising. We’re starting to figure out how we can make sure that once a solution exists and we know it works, that it can reach everyone that it needs to reach. So a lot of the puzzle pieces are there, and it is time to double down and to solve these problems and to make enormous progress, to accelerate the progress that we’ve been making for rare diseases. And with all the people I look around this room and I’m really confident that we can do that. And when we do that, we’re going to be creating the kind of America that both the president and Emily talk about. It’s an America in which life is filled with possibilities for everyone in our country. So thank you for your work and I hope you have a great rest of your meeting.

Erica Kimmerling (36:24):

Thank you so much. It is now with great excitement we are going to switch over to our panel discussions portion of this event. So if our next panel can begin to take their seats, it is my pleasure to introduce our distinguished panel moderator, Shonta Chambers, executive Vice President of Health Equity Initiatives and Community Engagement at the Patient Advocate Foundation. Thank you so much.

Shonta Chambers (36:47):

Evening. I know it’s late. I know it’s raining. Good evening.

Audience (36:51):

Good evening.

Shonta Chambers (36:53):

Now that sounds much better. So glad to be with all of you this evening and more importantly to have the honor of moderating this esteem panel who I’m going to introduce to all of you. So start sitting to my immediate left, we have Joni Rutter, Director of the National Center for Advancing Translational Science. We have Kim McClellan. All right. You know how you practice that one word that you’re going to do all day and you still can’t get it right. So I’m apologizing to Kim now. President of the Recurrent Respiratory, here we go, Papillomatosis Foundation. Yes. Next to Kim, we have Ed Neilan, Chief Medical and Scientific Officer for the National Organization for Rare Diseases. And pulling up the rear, we have Tamar Thompson from AstraZeneca, Vice President of Head and Global Corporate Affairs, Alexion, AstraZeneca Rare Disease.

So we are going to dive on in. So I hope that you all are ready. So I want to start with this opening question that I’m going to ask all of the panelists to actually respond to. So based on the work of your organization, what recent scientific and/or technological breakthroughs make you optimistic about advancing progress against rare disease?

Joni Rutter (38:10):

Shall I go first?

Shonta Chambers (38:12):

We’ll let Kim go first. Let’s break it up.

Kim McClellan (38:18):

I’m also a patient, and I think that will come out pretty clearly as we talk tonight. For us as an organization and community, where we began to see progress was when we realized we were the knight on the shiny horse. There wasn’t one coming. We were it. And when I took over leadership at the organization a few short years ago, I decided the word no did not exist because no is all we had heard as a community since I was diagnosed at the age of five. So recently what we’ve done is we’ve played an integral role of having two potential therapeutic vaccines in the pipeline, now have breakthrough therapy designation because of our FDA listening session. And let me say yes, patient organizations, you can change the mind of the FDA. So two drugs, breakthrough therapy now both on track for BLA submission, we’ve started an RRPF RRP pulmonary tissue bank with Yale because no one else would do it for us.

That’s how we make progress. And you spoke so clearly to that. We knew that patients deserve to know what type of HPV they had. Was it six or was it 11? Not just a 6/11 because we know now 11’s more aggressive and 11 has a much higher risk of malignancy when it’s found in the lungs. We partnered with Cincinnati and we developed that assay that’s now available across the world for clinicians to send tissue to. We’re a proud grantee of the IAMRARE registry program. That has become a very invaluable tool in research. We currently have a registry that has been used in two publications and is being accessed with the partnership we have with their major pharmaceutical, the patient voice. We have seen the use of Bevacizumab in our patient community when you systemically have near miraculous results. Genentech didn’t want to help us with it, so we’ve taken it into our own hands.

We are a near publication of a 24 consensus statement using international clinicians, getting those statements and we’re going to get it published so that we can take that and these patient reports from around the world to CMS to get this drug approved for our patients so that I don’t have to call a patient back when they call me to say my insurance stopped paying for this. We also have worked with the NIH and Dr. Clint Allen and we have a private investor that has helped us launch a phase one clinical study using Bevacizumab in RRP. And that speaks to the partnership of private industry with the NIH. We’re proud to be part of that.

The other thing we’re seeing is that as science progresses with DNA medicine, with using something as obscure as a gorilla adenovirus to deliver a therapeutic product into the human body, VEGF inhibitors in our patients, personal medicine is becoming real for all of us in this room. And so we need to make sure as these breakthroughs happen that our patients can get access because what good is a breakthrough of our patients can’t access it. So I’m going to pass it on, I believe-

Shonta Chambers (42:28):

We’re going to go to Ed.

Kim McClellan (42:30):


Shonta Chambers (42:32):

You hold, pass that mic back to Joni.

Ed Neilan (42:36):

Well, I’m glad Kim mentioned the NORD IAMRARE registry that we’re building for your organization in partnership with you. I’m going to pivot a little bit from that though. I was a laboratory scientist before I became a doctor. And in response to the question about which innovations I find most exciting, are giving me the most confidence, I would say broadly is the gene targeted therapies. Everything from ASOs to gene replacement to gene editing. They share a feature that instead of having to discover a therapy, like search through a million compounds to find one that randomly happens to do what you need, these gene targeted therapies can be essentially designed with a pretty high likelihood of working. And that’s an amazing advantage. And then the other thing is artificial intelligence. I’m not really an expert there, but I’ve become a convert watching things unfold. And I’ll just mention a couple of things before I pass the mic on that have touched on by working at NORD.

One thing in the gene therapy front that I’ve really enjoyed and send a thanks out to everybody else who made it possible, is that when I joined NORD, I was able to convince NORDs leadership to invest in the Bespoke Gene Therapy Consortium. I’ve been serving on the steering committee of that and co-chairing the clinical subteam. And I’m a medical geneticist, so the holy grail for me would be something like gene therapy. But there were some setbacks in gene therapy globally. In around 1999 when I was starting my medical training and it wasn’t possible to work on gene therapies, now I’ve played some role in helping to select eight gene therapies that are going to go forward. And the Bespoke Gene Therapy Consortium is working on trying to streamline that process so that others can follow the playbook they’re producing and perhaps etch out a little more regulatory flexibility from the FDA by having the NIHB the sponsor of these proposals, so that’s exciting..

And the other thing I think I’ll mention is that there’s so many different AI tools, but I was pretty excited that back in October I invited and hosted Dr. Brendan Frey, Deep Genomics to talk about something that you can think of as like the molecular biology version of chatGPT, something called BigRNA, and they had just announced this shortly before the NORD summit and Dr. Frey came and talked about it. I think it was one of his first public announcements afterwards, but trained on, I think 100 petabytes of molecular biology data, not words from the internet, but 100 petabytes of molecular biology data. It can predict the expression of genes from non-coding sequence changes, which were usually beyond our ability to do and design oligonucleotides for different therapies. So a lot of exciting things in these gene targeted and AI driven tools.

Shonta Chambers (45:49):

Awesome. Tamar.

Tamar Thompson (45:50):

Thank you. First, I want to say thank you for being here. Thank you to the White House and to OSTP for the opportunity. I am especially excited, and Ed’s already said it as well as others about cell and gene therapy and the opportunity that it presents, largely because there were a lot of stats that were presented today, but one of those stats was not presented, that 80% of rare diseases are genetic. And so when you look at that, the promise that cell and gene therapy brings to the table is phenomenal and we’re very excited about the work that we have underway. I think AI is exciting everybody, but also scaring everybody at the same time. So I will save that for a little bit later, but it does have the promise and the opportunity to shorten that seven year journey, five or seven different physicians that you get to see. And in the clinical trials, it has the opportunity perhaps to shorten time from discovery to bedside for patients. So we’re very excited about what AI presents in that case around clinical trials.

And then the third thing I’ll say is that next gen sequencing, whole genome sequencing, and then even just newborn screening, old school newborn screening, there’s still a lot of promise and opportunity for us to continue that journey as well. So I think these are the things that we are focused on and what work we’re really excited about right now.

Shonta Chambers (47:16):

Sounds exciting. All right Joni.

Joni Rutter (47:18):

All right, thank you. This is great. And I’ll probably double down on a few things that have already been stated. But NCATS has been a home for rare diseases since its inception about 12 years ago. And all of our efforts are really addressed the goals of bringing more treatments for all people more quickly. And we tackle rare diseases in a more than one disease at a time way, as you’ve heard, there are a lot of rare diseases. So going one at a time is not going to work, we have to do it in a multiple at a time way. So we use platform-based approaches. We use data science tools and the power of the patient voices, the patient advocacy groups

Joni Rutter (48:00):

… to really drive those breakthroughs. And so I want to highlight a few of those areas where I do see key breakthroughs happening that we’ve been lucky to be a part of.

NIH’s main breakthrough engine is the Rare Disease Clinical Research Network. This is comprised of a consortia of over 20 networks across the country studying about 280 rare diseases at a time with over 160 patient advocacy groups as part of the research team at the table working to really drive that engine. And this network has contributed to 11 new drug approvals to date, and we’re still counting on that.

Another area I want to double down on the AI/ML work too. AI/ML tools can shorten the diagnostic odyssey. They can help in repurposing drugs, as we’ve heard about as well. And we can target previously undruggable space. And so we’re looking forward to using these tools in that way.

We’re also advancing rare disease research with therapeutic testing using innovative tissue chips and 3D bioprinted tools to be a new way of developing models of rare diseases that don’t exist through animal models. So this is a really important way to revolutionize our ability to transform the developmental pipeline.

And lastly, we’re dedicated to this idea of advancing the gene targeted approaches that have been mentioned already, taking advantage of the fact that about 80% of rare diseases are caused by single gene mutations. So from gene editing to gene therapies, ASOs that could correct many genetic diseases to designing even the new trials that were going to be needed through basket trials and things of that nature.

This is going to be really, I think, the wave of the future to really help us get to what we need to get to. So we’re not just chasing treatments. We want to leapfrog to cures.

Shonta Chambers (49:52):

Oh, that was beautiful. One of the things that you touched on, Joni, that I think is critically important is you mentioned patient advocacy groups, so patients and caregivers actually being a part of the research team.

So I want to turn to Ed and Kim and say, how important is it and what are these opportunities to really center the experience of patients and caregivers at the heart of research?

Kim McClellan (50:16):

I can speak for our experience, and when we went to the FDA, we did not know at the time, they had never heard about our disease from the patient perspective, ever. And that conversation changed their mind on what mattered to the patient and what endpoints and outcomes should be the ones that the industry biotechs were looking at. And it was because of the patient voice that we are where we are today.

And if you contacted those two companies right now or tomorrow, they will tell you the same thing. They are where they are because of our voice, and they’re where they are because they brought us to the table at the beginning to be a partner in the project, not an afterthought for photo ops.

So I think that’s the key thing to remember. The patient voice is what matters. The outcome that the patients want is what matters. As wonderful as all of our clinicians are, they do not go home with that patient or that caregiver, and they do not know what that day-to-day life is like.

And like has been mentioned before, one word, for our community, it was one less surgery. So that had never been discussed before. So that, to me, is why it’s so important. It can change the trajectory of research and drug development.

Shonta Chambers (52:01):


Ed Neilan (52:04):

So I’m going to bounce back to the IAMRARE registry here for a minute. And we’ve already heard from Nasha Fitter and others how patient groups are driving their own research. And so that NORD program, which I get to oversee, has now created about 50 natural history studies that are designed for a patient advocacy organization with help from their medical advisory committee.

And they own the data, they own the future of it, have complete control over it. And we believe that patients should be driving that process. They’re not going to silo the data. They’re going to put it to the best possible use. Academics tend to silo the data. Companies tend to silo the data. So wholly endorse what’s already been said.

Now, I have the benefit of having seen an earlier version of the question where you ask, “Why is it important to involve patients throughout the whole process?” And so, having thought about that a little bit and knowing that it was one of the things you’re interested in, I’m just going to slide into that.

And I was thinking about it. If you don’t involve the patients and their lived experience throughout the process, you run a risk of sort of skipping a step and discovering three thirds of the way or three fourths of the way through your drug development program that you designed a trial that patients can’t tolerate or you picked an endpoint that isn’t as important as another one might’ve been.

And you don’t want to involve patients just when there’s a FDA advisory committee meeting and you sort of try to push something over the line that maybe is struggling. It would’ve been better to have them involved throughout that process.

Shonta Chambers (54:12):

Absolutely. So this is like speed dating. We just got the five minute. So I want to take this question. Yeah, this speed dating thing is really fast. So I really want to direct this last question, which is MR, MRS, AI.

So, given the promise of AI to advance research in rare diseases, diagnostics, therapeutics, repurposing, what are key considerations, Joni and Tamar, that we need to consider to address in research and development so that we don’t reinforce bias? So, Joni, if you start, and if, Tamar, you close us out.

Joni Rutter (54:49):

Yeah, so it’s a great question. So I think of four keywords, explainability, usability, transparency, and trustworthiness. These are the four key things that I think ensuring AI fairness, those four terms can help ensure AI fairness through clear, user-friendly, and open systems that detect and reduce bias for trustworthy decision-making. I think that’s going to be so critical from the healthcare space as we help drive this area of research.

And with that as a foundation, AI and ML can help us shorten the diagnostic odyssey, for example. Rare diseases are hard to find in the healthcare system, as many of you know, because they lack the diagnostic codes that identify rare diseases in the electronic health records. And AI and ML can be trained to find other features in those records that can be like a fingerprint for finding rare diseases in those diagnostic records. So I think that’s a big plus.

And then another area, we’ve already talked it about a little bit, is to help shorten then the therapeutic odyssey as, once you get diagnosed, you then have this therapeutic odyssey as well. And so I think we’re making big inroads here, especially in the area of drug repurposing.

And since that’s kind of a theme for tonight, I want to pick on an example here. This is the NCATS program called the Biomedical Data Translator that was referred to earlier, and teams are actually here today who represent some of the folks that are working on this. It’s a consortium of researchers that connect over 150 databases and resources that discover novel connections across biomedical information.

And one of the queries that the Translator team was asked to do was for a rare disease called SHINE syndrome. SHINE is… It’s made up of the letters of the symptoms for the rare diseases. And there’s a specific gene that causes a loss of function in these patients.

And the team asked Translator to find drugs that might ramp up that specific gene for SHINE syndrome. And Translator returned a commonly-used drug called guanfacine for… It’s a blood pressure medication. And the child’s mother who was experiencing the SHINE syndrome sent in pre-treatment coloring books of the child before they were treated with this particular medication of guanfacine.

And you can see that there was erratic coloring in the coloring books, wasn’t able to do it very well or stay within the lines. However, five months after treatment, the mom sent a caption with the coloring book that says, “We’ve seen huge improvement on Peppa Pig in the coloring books.” So this sort of measurable progress is a powerful testament to drug repurposing’s potential in rare disease research. And Translator’s available now in a demonstration phase that you can be able to look at it and even see for yourself. And I think that shows the power of what’s to come.

Shonta Chambers (57:47):


Tamar Thompson (57:47):

Right. I know we got one minute left, so I’m going to quickly wrap up and say the bias is the fact, and it’s already been mentioned by Joni and others, is that we don’t have codes. As a former health information management professional, data in that’s bad is data out that’s bad. But if there’s no data at all, there’s the bias in itself.

And I want to give a quick shout out to EveryLife and Annie Kennedy for the work that they are doing to ensure that there is a code for every single rare disease that exists, every single of the 10,000 that are out there. So I want to thank Annie. And that’ll be the end of my statement, Shonta.

Shonta Chambers (58:23):

Well, of course, I definitely want to draw your attention. The Rare Disease Diversity Coalition just wrapped up the first patient and caregiver gap survey focused on the impact of rare disease on racial, ethnic, and other marginalized populations. That will be released tomorrow, the first survey of that kind. So definitely be on a lookout for that, and please join me in… And all good things must come to an end, so this is all the time we have today. So please join me in applauding our panel.

Erica Kimmerling (59:01):

Thank you so much, Shonta, and to our panelists. That was a fantastic discussion. I wish we had more time. I wanted to hear all of the things from all of you. And for teeing up our next panel so, so well, I’m just going to ask our panelists to please remove your green name badge if you haven’t already. It seems like all of you have.

And it’s my pleasure to introduce a leader in this space who’s already been introduced, Annie Kennedy from the EveryLife Foundation, for our final panel discussion.

Annie Kennedy (59:30):

Great. Thank you, Erica. Good evening, everybody. I’m Annie Kennedy, and I’m the Chief of Policy Advocacy and Patient Engagement with the EveryLife Foundation for Rare Diseases. And I’m really delighted to be here this evening.

As we’ve heard mentioned numerous times tonight, the rare disease community represents more than 10,000 rare diseases impacting more than 30 million Americans, which we believe is a conservative estimate, for all the reasons we’ve heard here this evening.

What we haven’t yet heard mentioned is that that represents a disproportionate percentage of children in the US. In 2019, the National Economic Burden of Rare Disease Study established that the economic impact of living with a rare disease in the US was close to a trillion dollars.

And when we dug down further, what we learned was that 60% of those costs were not direct costs, but were costs being shouldered directly by families and society, which really lends us to the policy opportunities that we have to solve for the impact of rare disease in the US.

So we are really thrilled to be here this evening to talk about policy opportunities in rare disease and to be really joined by this panel. And we thank the Biden Harris administration and the federal agency leaders who really helped put together this strategic inflection point for our rare disease community. This is really an important evening for us. Thank you.

So I’d like to introduce our panel. We are joined by Paul Melmeyer, who serves as the Vice President for Public Policy and Advocacy at the Muscular Dystrophy Association, Tania Simoncelli, who’s the Vice President of Science and Society at the Chan Zuckerberg Initiative, Charlene Son Rigby, who’s the CEO of Global Genes and the co-founder and board member of STXBP1 Foundation, and Julie Tierney, who’s the Deputy Director for Strategic Policy and Legislation for the Center for Biologics Evaluation and Research, otherwise known as CBER, at the Food and Drug Administration or FDA. So thank you to our panelists for being here.

So the purpose of this panel this evening is to discuss current policy challenges in the rare disease space, given the emerging scientific advancements and opportunities in diagnostics, accelerating innovation, increasing access to treatments, and supporting patient partner research, which we’ve heard so much about already this evening.

So, with this in mind, I’d like to start at the beginning of where our patients’ entry into our space begins, and that’s with diagnostics. So, in a recent study, we found that the mean diagnostic odyssey for an individual living with a rare disease was, on average, six years and included 17 medical providers, including, on average, close to three out of state visits. And the avoidable costs in that diagnostic odyssey ranged from $86,000 a year to $517,000 a year. So, Paul, I’m going to start this question with you, and anyone who would like to hop in, please join. So, as we consider current policy proposals and technology advances, what opportunities exist on our near horizon to reduce or eliminate the diagnostic odyssey for our rare disease community?

Paul Melmeyer (01:02:49):

Well, thank you, Annie. And thank you, everybody, of course, for joining us today and for inviting me. A big thank you to the administration, to NIH, ARPA-H, FDA, everybody here from the administration for inviting the Muscular Dystrophy Association to be part of today’s conversation.

Annie, to answer your question, I think there are a handful of things that really kind of need to be mentioned. So, first of all, there are still far too many both neuromuscular diseases, and that’s the community that we serve, as well as rare diseases more broadly, in which the underlying cause of the disease is still not actually yet understood.

I look at amyotrophic lateral sclerosis, ALS. It’s actually a perfect example of this, which is one of the more common rare diseases, frankly, but it’s still not understood what the underlying cause of the vast majority of ALS cases actually is.

So talking about policy interventions for those rare diseases in which the gene has yet to be found or just, in general, we don’t know what the cause happens to be, infusing further research funding into those diseases to truly find that underlying cause will then facilitate from there targeted treatments, targeted care.

For those diseases for which newborn screening could be a way to diagnose, newborn screening saves lives, frankly. I look at the spinal muscular atrophy community, and I see folks who previously for certain variations of spinal muscular atrophy upon birth, and there was no newborn screening at the time, unfortunately, children would pass away before their first year of life. Now that newborn screening is actually implemented across all 50 states for spinal muscular atrophy and there are gene therapies and targeted treatments available, newborn screening is saving the lives of those with spinal muscular atrophy. And that’s just one example of many.

So infusing further resources and revolutionizing our newborn screening system is another way in which a policy intervention could truly shorten the diagnostic odyssey. We need to have greater access to genetic testing, more broadly, whole exome sequencing, whole genome sequencing, all the other forms of genetic testing so that folks can get that accurate genetic diagnosis.

And then I want to highlight something from that EveryLife study in which it shows that having that earlier diagnosis actually saves our system money. So those arguments that a whole exome screening or a whole genome sequencing is going to cost too much or it’s just unnecessary in certain circumstances just does not ring true. So newborn screening, whole exome, whole genome, other genetic testing, and then finding that underlying cause, those are the ways in which policy interventions could truly shorten the diagnostic odyssey.

Annie Kennedy (01:05:25):

That’s great. And maybe just even tying together a couple of your points, when you talk about SMA as an example, which we all look to as just a phenomenal example in our lifetimes, there was a really important investment into SMA through the SMA project, a federal investment into NIH, which was an early-stage investment that yielded really lifesaving dividends. So that’s a great example.

Anyone else want to add to this before we move into therapeutics? All right, we’ll move into… Let’s keep this pipeline moving. So when we think about policy and therapeutic development, so this year also marks the 40th anniversary of the landmark passage of the Orphan Drug Act. And the ODA, as we all like to talk about it as, created a designation, incentives, and other processes to help evolve a largely neglected sector, which the ODA is probably the reason why most of us are sitting in this room.

Since that time, many more incentives have been created to further enhance this research development and regulatory environment. But we need more to ensure that this generation of rare disease patients benefit from today’s research pipelines.

Since the passage of the ODA, the FDA has issued more than 1100 orphan designated approvals, the vast majority of the more than 10,000 rare diseases, an estimated 95% still, though, have no FDA approved treatments. To respond to this need, the rare disease patient community has become a significant stakeholder within the rare disease therapy development space, as we’ve heard mentioned several times this evening.

So, Charlene, can you talk a bit about how the role of patient advocates has changed and evolved in advancing therapeutic development in rare diseases?

Charlene Son Rigby (01:07:14):

Thanks, Annie. And thanks to the White House for inviting me. This is a very exciting time for rare disease.

So I think I’m going to just put a point on a lot of the comments that have been made and stories that have been shared tonight. Clearly, the role of patients and patient advocates in rare disease has changed fundamentally over the last 10 to 15 years.

And advocates are not waiting for research to advance for their disease. They are the ones that are pushing forward progress. And at Global Genes, we’ve started to call this next-gen advocacy. And what we see that these next-gen advocates are doing is that they’re kick-starting research. They’re building community. They’re raising millions of dollars and, as Nasha pointed out, not through grant money, but through bake sales, through blood, sweat, all kinds of social campaigns to fund research.

They’re developing research strategies. They’re collecting data through registries like the registry that we have generated through our RARE-X research program, where we work in collaboration with patient advocacy groups to collect longitudinal robust data.

So you had mentioned we have 10,000 rare diseases. And one of the things that is really exciting now is that because of our evolving understanding of genetics, many diseases that we thought were a single disease we now know are actually many underlying genetic diseases. And in fact, in the epilepsies, there are now over 900 monogenic epilepsies, meaning epilepsies that are caused by a single genetic problem.

And so we have this opportunity, as the folks in the last panel talked about, to really apply precision medicine to these genetic disorders. But the challenge is that there are 10,000 rare diseases. And so we have this huge tail of rare, ultra-rare, n-of-1 diseases.

And frankly, biopharma is not very interested in these diseases, especially if there isn’t fundamental research that talks about the symptoms, that describes the symptoms, it describes the disease mechanisms. And so this is really where the advocates are jumping in, in this huge tail of 10,000 disorders, where they’re investing to build this fundamental knowledge and even further.

And so I’ll actually give an example from my daughter’s disorder. So my second child was diagnosed with STXBP1-related disorder in 2016. And this is a neurodevelopmental epilepsy. She was diagnosed after a three-year diagnostic odyssey. So I’m very passionate about the opportunities in terms of advancing diagnostics. There is nothing like an answer for a rare family.

So after her diagnosis in 2016, we started a foundation the next year with five other families. And at the time, there were 200 patients who had been diagnosed in the world, and there were zero therapies either approved or in development for STXBP1.

And now, if we fast-forward five and a half years, we now have 12 therapies in pipeline. And, of course, none of them are approved yet, but we are working as quickly as we can to advance them toward clinical trials. And I think the key message here is that this transformed landscape is because of the work of patient advocates working in conjunction and collaboration with traditional researchers.

So I want to also say that this is obviously not just happening in STXBP1. This is happening across many, many disorders. And I think that that’s been one of the really exciting things tonight is to hear from so many advocates about how they’re advancing work in their disorder.

Annie Kennedy (01:11:10):

Yes, absolutely. So you actually set up a beautiful segue to Tania, actually. So, Tania, as you well know, patients are central stakeholders in biomedical research, realigning research priorities around their interests and needs and bringing about really better, equitable health research outcomes within our ecosystem.

CZI has created and funded a network of patient-led rare disease organizations working to accelerate research in their specific disease areas. Can you talk a little bit about what you’ve learned about the capacity of the patient advocacy organizations and the groups that you’re working with to drive research and innovation and bring about more equitable research?

Tania Simoncelli (01:11:54):

Sure. Thank you so much, Annie. And I also want to extend my thanks, especially to Erica Kimmerling, who did

Speaker 1 (01:12:00):

So much work to put this event together very quickly. I know what that’s like, having worked at OSTP some years back. So in 2019, the Chan Zuckerberg Initiative launched the Rare As One network and it’s program where we are providing direct funding and also standing up a whole incubator style program to help patient led rare disease organizations build their scientific and organizational capacities to accelerate research to their disease areas. And we did this out of recognition and really having learned from global genes and many people like David Feigenbaum and Nasha Fitter about the extraordinary work that they were doing and recognizing that there was no funding for patient communities and why weren’t these groups being funded because they seemed to be so critical to accelerating research.

And we wanted to build a network and fund groups that were fairly early stage. So the average budgets of the groups coming into our network have around $300,000 budgets. So really small scale budgets. A lot of these groups, as you may know, are doing bake sales and fun runs and individual donations, and that’s how they’re surviving. And we wanted to sort of explore what if we could change that? What if we could give them some modest funding, like $200,000 a year over a three-year period and give them some of this training and support that they need to build their organizational scientific capacity? Can we learn alongside them, can we learn about how to optimize this extraordinary power of patient communities, their motivation, their passion, their determination, and frankly their expertise, and bring it to the table and really figure out how to do that.

And so we stood up this program now for just five years ago, we launched the first cohort in 2020. We’ve to date funded 60 groups. And I’ll just call out maybe three things that we’ve learned, although I think we’ve learned dozens and dozens and I could talk all day about this. So the first thing is that with really modest support, these groups can completely transform, just like Charlene just said, the research landscape in their disease areas, many shortening the distance from basic biological discovery all the way to potential treatments in their disease areas that typically takes an average 30 years to less than a decade.

So to give you a sense, the 60 groups we funded to date have engaged more than 6,000 researchers and clinicians in their research networks from around the world. They, our first cohort of just 30 groups, within three years, they hosted 70 scientific convenings. They partnered in the launch of 135 research projects. They launched 40 clinical registries and biobanks. They co-authored, they were named as co-authors note on 60 scientific papers. They secured 65 industry and they helped to launch 17 clinical trials. In three years, groups had started with budgets of $300,000. And for many of these groups, ultra-rare had really very little research happening in disease areas. So that’s like lesson one. With modest support, these groups can have absolutely outsized impact in the field.

The second is that they’re really bringing about more equitable research, to your point, to your question, Annie, and the thing is that these groups are highly motivated to find every single patient around the world with their disease because their diseases are rare and that that’s what they need to do. And they understand fundamentally the importance of building trusted, engaged, diverse patient communities. And so they’re developing incredibly innovative approaches and strategies for engaging patients and meeting them where they meet them, where they’re at. And they’re, if you think about the different stakeholders in this ecosystem, who are the people who are typically less trusting of research? Who are they going to trust? Are they going to trust the researcher or the clinician or a patient like them who is actually experiencing that disease? They’re going to trust the patients. And so they’re incredibly important in building robust cohorts for research that communities that become research cohorts.

And then finally, the thing that I’m realizing is that we’ve done this with 60 groups. We just closed another round of calls for applications. I hope we’re going to be funding another 30 groups stay tuned, but this is going to be maybe 90 groups and we have 10,000 rare diseases and there are at least a thousand groups according to a survey that David did in the United States alone. So fully optimizing the power of these communities is going to require a real sea change in the way we think about doing and funding research. And I just want to echo Nasha’s comments here that we have to recognize all of us, all of the stakeholders in this room, that patient communities are not nice, strong patient communities are not nice to haves, they’re must haves.

And if we recognize that we need to see a proliferation of programs, including in the federal government that are directly funding the work of patient communities, they are absolutely essential stakeholders and they are driving research and they need to be compensated for the work that they’re doing. And they should not have to do this work on bake sales and individual donations. They should be funded as true partners in research. We need more programs like the RDCRNs, we need more things like which I love that program and we need more programs that are actually funding the groups as part of research protocols and bringing patient groups together with researchers and clinicians and recognizing them as co-investigators on research projects.

Annie Kennedy (01:17:53):

Yes, most definitely. Absolutely. Funding is absolutely critical to partnership. You also speak to one of the things that I’ve always said is the superpower of patient advocacy groups. And that is the power to convene and the power to bring stakeholders together. And none of these successes would’ve been possible without the willingness of stakeholders to come to the table and convene with us. And one of the stakeholders who’s been so instrumental in convening with us and coming to the table with us has been the FDA. And so that is a perfect segue into moving into speaking with Julia.

As we’ve been talking throughout the evening, we’ve been talking about, and I don’t even think we’ve used the term tonight yet, the patient focused drug development movement and the way that patient groups have really engaged in a very meaningful and central way within this patient focused drug development ecosystem. And I’d be remiss not to recognize one of the leaders within the PFDD movement, Dr. Janet Woodcock, who’s actually here with us tonight, who really helped us flip the script in how patient communities would engage with regulators within therapeutic development. And is really one of the reasons why so many patients have seen life changing, life altering therapies come to bear.

So we have seen such changes in so many amazing scientific advances in so much scientific progress happening right now, including gene editing technology like CRISPR, which many of us never thought, maybe, never thought we’d see, didn’t think we’d see maybe in 2023. We’re just at the beginning of a wave of safe and effective gene therapies that have the potential to transform the lives of patients with rare diseases. Earlier today, we heard from the sickle cell community talk about their recent approval in December of 2023 and the transformative impact that’s having on their community.

And in 2023 alone, 17 gene therapies were approved. This is phenomenal for our rare disease community. As the field continues to grow, Siber seems to be really leaning in to utilizing available regulatory flexibilities and other tools that you have available to help advance the field of cell and gene therapies for the ultimate benefit of our patient community. So Julia, can you talk a little bit about what some of the most important FDA policy initiatives are that you’re currently advancing in the rare disease space?

Speaker 2 (01:20:18):

Yeah, happy to. But first of all, I just want to say that Janet managed to sneak in without letting me know, but I just wanted to call out her efforts on the patient focused drug development and how much that transformed drug review at FDA. And I think it’s really critical that we’ve been talking to patients and hearing what’s most important to them to measure how to design trials around their experiences. But this next generation of patient advocacy, bringing together patients, scientists, researchers, academics, industry FDA, to really think about how to understand diseases, how to understand biomarkers and what the path forward is as a regulatory matter. Because I think I’m like the last panelist, but I wanted to make sure you all didn’t think of FDA as like the end of the process because we really want to be involved in the beginning, early and often.

So in terms of what I think of the biggest policy priorities, from my perspective actually don’t have rare disease in the title. It’s accelerated approval. We’ve got these molecularly targeted therapies where there’s a much greater opportunity to show the relationship between a genetic product or protein and the drug itself, the gene therapy or the ASO itself. And so I think we’re able to rely on accelerated approval more easily in those spaces than we may in other areas where we’re sort of trying to figure out how the disease works and how the drug works. So they’re, I think clarifying our expectations around accelerated approval for those products will be really important to getting products to the market to patients sooner.

I think platform technologies as well, we’ve talked a little bit about that. There were some provisions in the most recent reauthorization of FDA’s user fees around platform technologies. And that’s a designation program after approval where you can use sort of information about products that have the same backbone across development programs. But within Siber, we’re also looking about how we can use that concept even further backing up from approval, but really thinking about across development programs when it’s scientifically appropriate, if a therapy is using the same vector, the same backbone, that we can sort of leverage that across different disease states.

And again, we can target smaller diseases and get products to market faster. And then I think also we’ve got a number of pilots. We’ve got the start pilot, which is a increased iterative ad hoc communications with sponsors of certain rare disease products, kind of riffing off of Operation Warp Speed and the COVID vaccine development. I think that that’s going to be really important to see how that can help find paths forward for different products. We’ve got an endpoint for rare diseases pilot under the latest round of our user fee reauthorization. Again, coming in early to understand the disease as much as we can, think about what endpoints are important to patients, what endpoints make sense from a scientific perspective and are going to move the products, raise all boats and move the products forward as quickly as possible.

Annie Kennedy (01:23:38):

Absolutely. We just want to thank you and all of your colleagues for your dedication to our rare disease community. It’s really impacting and benefiting us all. So thank you. So I believe we’re coming to the end of our time for the policy panel. But I just want to again, thank the Biden Harris administration and all of our federal agency partners for really organizing this landmark evening on behalf of all of us in the rare disease community, we really recognize that, thank you to those who’ve come together to recognize that this is not just about the estimated 30 million Americans living with rare diseases.

It’s about our loved ones, our neighbors, our employers, our caregivers, and that because of this collective commitment to rare disease and understanding that time is our greatest commodity, that in diseases where there was once nothing to do for patients and we were told to just go home and love one another, we now have opportunities to slow, halt and reverse disease progression, optimize our outcomes, and live better fuller lives. We can collect data, we can evaluate the therapeutic impact over time, and we can now treat and sometimes cure diseases, and we know there’s so much more on the horizon. So thank you.

Speaker 3 (01:24:52):

Thank you so much for that great panel. It is my pleasure to introduce Steve Gleason who sent us a video to close out our forum today. Now, don’t play it yet. I have to introduce him. For those of you who are football fans, you likely like me have been inspired by Steve Gleason for more than two decades. Just a quick NFL history lesson on September 25th, 2006, Steve was responsible for one of the most dramatic and memorable moments in New Orleans Saints history when he blocked a punt in the first quarter of a game against the Falcons, setting up a recovery by his teammate in the end zone, the first point scored by the Saints in the Superdome in the 21 months since Hurricane Katrina had devastated the city. The Saints won the game and went on to have one of the most successful seasons in their history up to that time going to the NFC championship that year. That moment served as an incredible sign of hope to many in New Orleans and beyond. Like so many people, like we heard from tonight, who end up in the rare disease space, Steve brought the incredible talents of fearlessness leadership and the ability to inspire that served him well in the NFL and brought that to the rare disease fight in his case to the ALS community. The work that he and his team have done has changed the lives of countless people already and many more to come. I was lucky enough to see the impact he and his entire family had firsthand. So it is with great pleasure to introduce one of my personal heroes, Steve Gleason.

Speaker 4 (01:26:44):

Hi there everyone. I’m Steve Gleason. It is such an honor to be asked to say a few words today at the White House Rare Disease Forum. I apologize that I cannot be with you in person. Air Force One wasn’t in the neighborhood and I still can’t afford a private jet on my zero salary, but I’ll keep dreaming. Thank you for having me, and again, I’d love to be with you here at the White House, not only for the experience in this moment, but to be together with friends like Danny L. Carnival and so many who are making a daily impact on the lives and health of us all.

If you don’t know my story, I was diagnosed with ALS 13 years ago, because of that and right in this very moment, I feel a profound sense of gratitude, meaning, and responsibility in my life. As much as I’d enjoy being there, I have a deep trust that I am exactly where I’m meant to be, and I intend to live wholeheartedly with gratitude and generosity. For every breath that remains ALS has made me more vulnerable than I could ever have been imagined. It’s humiliated my body. It has annihilated my mind causing anger, frustration, and suffering that I had never known prior to January 5th, 2011.

Like many rare diseases, ALS is remorseless, yet my heart remains, my soul remains. I love this life, but truly giving yourself to a tenuous existence can be frightening. To truly love the people we are with is to take a risk. Being completely dependent upon other people can be entirely harrowing, but from vulnerability, my soul offers strength. From humiliation, my heart brings resilience. From annihilation, my soul has discovered purpose. From suffering, my heart knows compassion and is driven to serve others who experience suffering.

In 2011, my wife Michelle and I founded Team Gleason to help others live productive and meaningful lives. The talented and passionate staff at Team Gleason provides and develops innovative solutions, whether it is providing the world’s most cutting edge assistive technology or advanced equipment, or sharing the day-to-day methods and procedures we have learned and developed over the past 13 years. Team Gleason provides real solutions to real people right now, and because policy doesn’t always keep up with the speed of technology, we also passed two laws to ensure that people had access to the very communication devices with which I am speaking to you today. You see, I’m not just a pretty face.

Also, in 2014, we gathered a room full of patients, caregivers, researchers and clinicians, and ask them to create a business plan to help bring an end to ALS. That plan now called Answer ALS has become the single most comprehensive and openly shared ALS database in history. Over 300 independent research projects from our work have started around the world in the last three years, and we are just getting started. While our foundation helps 6,000 people to live with ALS every year, it is not lost on us that there are over 10,000 rare diseases and millions of people are affected by them every day. Many of you here today and the hundreds in DC this week are representatives for the millions who cannot be.

On January 15th, 2020, I was humbled and honored to receive a congressional gold medal, just a short role and walk from here at the US Capitol. As I shared on the day, I felt I was representing some joy, encouragement, and even triumph for the millions of extraordinary people in this country living with disabilities or other illness and more broadly, all of you ordinary humans who experience adversity, tragedy, or anguish. No one is immune from anguish, tragedy, or adversity. I believe that adversity is our opportunity because we will all face pain and tragedy. But it’s clear to me that beyond the human capacity of imagination, our greatest strength as a species has been our ability to bravely share our weaknesses and vulnerabilities with each other. Doing that, we’re able to understand the issue and collaborate with each other to solve problems and overcome any obstacle.

I’ll end this with my closing words from the Congressional Gold Medal Ceremony. I believe these words are as relevant now as they were then. If we can share our weaknesses with each other and compassionately collaborate to solve problems, our human potential is boundless. If we can work to understand and solve each other’s problems and each other’s pain compassionately, then truly all things are possible. Thank you again for allowing me to speak with you today. I love you.

Speaker 3 (01:33:09):

I ever could have, so thank you so much for being here. This time spent together will be made worth it when we turn these conversations and turn it into action. And we from the Biden Harris administration want to be our partners on that. So thank you.

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