The FDA approval of the first treatment for Friedreich’s Ataxia (FA) on Rare Disease Day in 2023 marked a significant milestone for the estimated 5,000 people in the U.S. and 20,000 worldwide living with this rare, progressive neurodegenerative disease. This decades-in-the-making achievement highlights the critical role of patient advocacy in driving research, engaging with regulators, and accelerating drug development for rare diseases.
In this guest blog, Ron Bartek, co-founder of the Friedreich’s Ataxia Research Alliance (FARA), shares how his organization helped turn scientific collaboration into real treatment progress. His story underscores the power of patient-led initiatives and offers insights for other rare disease communities working toward similar breakthroughs.
The Power of Patient Advocacy in Drug Development
By Ron Bartek, co-founder of the Friedreich’s Ataxia Research Alliance (FARA), a NORD Member organization
Like so many of you, my journey to becoming a patient advocate started at home in 1998 when our 11-year-old son Keith was diagnosed with Friedreich’s Ataxia (FA). At that time, FA research was scarce, no clinical trials existed, and pharmaceutical companies showed no interest in developing treatments. Families like ours felt isolated, with little hope.
Shortly after Keith’s diagnosis, my wife Raychel and I co-founded the Friedreich’s Ataxia Research Alliance (FARA). We set out to change that dire landscape by supporting FA research, growing the field, and building and nurturing the relationships needed to bring all the stakeholders together in a common cause and commitment. Our journey shows just how powerful patient organizations can be in drug development.
Building a Research Community
Our first significant step was convening the FA research community. In 1999, just six months after FARA’s founding, we co-hosted a scientific workshop with the National Institutes of Health (NIH), bringing together more than 65 scientists from around the world to collaborate. No pharma companies accepted our invitation, and only one other advocacy organization agreed to participate. Right after that conference, FARA awarded our first small grant. That initial workshop and first grant began to build momentum and to create the FARA culture of unity where we are all in, all together, all the time.
Today, FARA continues to strengthen this global collaboration. In 2024, our international Congress drew 650 participants, and we awarded 45 research grants totaling $10 million. Federal funding for FA research has grown from nearly zero in 1997 to over $18 million in 2024. The field has expanded significantly, with researchers, clinicians, and industry partners working together to accelerate progress.
Engaging with the FDA and Industry
As research advanced, we engaged deeply with the U.S. Food and Drug Administration (FDA), ensuring that patient voices were central in regulatory discussions. We participated in industry meetings with the Agency, spoke at FDA events, and advocated for policies that support rare disease drug development.
In the background, we were also building our own “regulatory grade” natural history database, which proved critical. When an industry partner with positive clinical trial data was told by the FDA that those data were not sufficiently persuasive to merit approval and that an additional trial would be required, we mobilized our community, gathering 75,000 signatures from patient families, researchers, and clinicians, on a letter stating that they found the results to be extremely persuasive and urging the FDA to receive and review an application for approval from the company. The FDA took our letter seriously and agreed to review the application, During the review, the company submitted additional evidence, including data from FARA’s natural history database as an external control and, on Rare Disease Day 2023, the FDA approved the first-ever treatment for FA — a monumental achievement for our community.
Pushing Forward — for FA and Your Community
This initial approval was a tremendous milestone, and the momentum continues to build. As the first quarter of 2025 draws to a close, seven additional FA trials are under way, including promising gene therapy and protein replacement programs. Our journey mirrors that of many other rare disease communities, starting with grassroots efforts and evolving into sophisticated collaborations driving real impact.
FARA is certainly not the only patient advocacy organization following this blueprint. Some of you might have gone even further or faster. But if you and your organization have not traveled as far along in your therapy-development journey, or if you are now getting underway, I encourage you to keep pushing forward. Most of us in this rare disease community began this journey on the kitchen floor or the dining room table. So, if that is where you are, don’t get intimidated — get started! A great first step is figuring out how to insert yourself into the drug development process.
Learning How to Shape Drug Development
For decades, many of us have been sharing our stories to learn from each other about the value of engagement in accelerating therapy development. Our well-intentioned efforts have been limited by the fact that most rare disease communities are at very different points along the engagement path. While inspiring, our stories can be intimidating rather than empowering and are insufficient to prepare other communities to achieve similar progress.
That’s why FARA was proud to collaborate with the FDA, NORD, and the Critical Path Institute to create “Rare Disease Drug Development: What Patients and Advocates Need to Know,” a self-paced online training program designed to empower rare disease advocates. This training will help ALL advocates accelerate their progress wherever they are on the engagement path and participate more effectively in therapy development.
I encourage rare disease advocates to check out the course, no matter where you are in your drug development journey. I think you will find the content very helpful, from forming a patient organization to making it research-ready to understanding and growing in your role along the entire continuum of the drug development process, from basic research to post-market considerations and patient access.
I am appreciative of this truly important work from our NORD colleagues. We are all here to help each other. Thank you — and all rare disease communities — for your dedication to this important work!
Explore the three-part course, “Rare Disease Drug Development: What Patients and Advocates Need to Know,” at learn.rarediseases.org.