FDA Engagement

Empowering Rare Voices
to Further Drug Development

NTSAD advocates for individuals and families living with rare diseases in many ways. We partner with families by providing opportunities to share their stories, experiences, and perspectives. Together, we make sure rare voices are heard, and NTSAD engages, educates, and connects with patient advocacy organizations, legislators, industry, and media.

NTSAD forges collaboration to accelerate research, drug development, and clinical trials. As part of these efforts, NTSAD’s leaders and adults and parents of children living with rare diseases have engaged with the U.S. Food and Drug Administration (FDA) several times, including Externally-Led Patient-Focused Drug Development (EL-PFDD) meetings and Patient-Led Listening Sessions.

Externally-Led GM2 PFDD Meeting

On February 15, 2024, members of the GM2 (Tay-Sachs and Sandhoff diseases) community gathered for this first-ever Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting to share their perspectives living with these rare diseases. The EL-PFDD meetings give FDA and other key stakeholders, including medical product developers, health care providers, federal partners, an important opportunity to hear directly from patients, their families, caregivers, and patient advocates about the symptoms that matter most to them, the impact the disease has on patients’ daily lives, and patients’ experiences with currently available treatments. This input can inform FDA’s decisions and oversight both during drug development and during our review of a marketing application.

The FDA considers members of the GM2 Community as “experts in what it is like to live with their condition, and they are uniquely positioned to inform the understanding of the therapeutic context for drug development and evaluation.”

Watch the recording of the meeting here.

Canavan Disease FDA Patient-Led Listening Session

On March 21, 2023, several parents whose children are affected with Canavan disease shared their experiences during a Patient-Led Listening Session with the U.S. Food and Drug Administration (FDA) so its members could learn more about the symptoms, onset levels, and challenges in getting a diagnosis, as well as the complex care needed for a child with a rare disease and its impact on the child and entire family.

Thank you to the parents who shared stories about their loved ones and their personalities, expressed their hopes for their children, and advocated for the urgent need for effective treatments. This listening session was a collaborative advocacy effort by NTSAD, Canavan Foundation, and Cure Canavan Fund.

Late Onset GM2 Gangliosidosis FDA Patient-Led Listening Session

On January 15, 2021, members from the NTSAD Late Onset GM2 community, ranging in ages from 32 to 55, shared their perspectives and experiences living with their diagnosis of Late Onset Tay-Sachs and Late Onset Sandhoff diseases during a Patient-Led Listening Session with the FDA. This meeting provided FDA members with an understanding of the diseases, the burden and symptom progressions, heterogeneity of Late Onset GM2, and potential issues related to drug development. Two caregivers – one a spouse and one a mother – also shared their concerns and fears for their loved ones as they watch their loved ones’ diseases progress.

Thank you to the members of the LOTSS community who shared stories, explained their willingness to take risks when it comes to trials, and advocated for the urgent need for effective treatments.

GM1 Gangliosidosis EL-PFDD

In support of the GM1 community and the Cure GM1 Foundation, an EL-PFDD meeting featuring families living with GM1 gangliosidosis was held in October 2022.


Watch the 2021 NTSAD Conference sessions above and learn from fellow advocates, Stephanie Fischer and Abby Rogers, and Bill Berry, our good friend and communications expert.