GM2 PFDD Meeting

Empowering Rare Voices
to Further Drug Development


NTSAD hosted the first-ever, Externally-Led Patient-Focused Drug Development (EL-PFDD) Meeting for GM2 (Tay-Sachs and Sandhoff) with the U.S. Food and Drug Administration on February 15, 2024. The live, virtual meeting informed members of the FDA to raise their awareness about GM2. We thank all who participated, viewed, commented and supported this historic meeting for the global GM2 community.

Twenty-five families and individuals shared their experiences living with the impact of Tay-Sachs and Sandhoff diseases ranging in onsets from infantile, juvenile to late onset. Florian Eicher, MD of Massachusetts General Hospital in Boston, and Cynthia Tifft, MD, PhD of NIH in Bethesda, MD gave overviews about the diseases and the devastating effects and symptoms of these lysosomal disorders have on individuals living with them. Callers and shared comments illustrated varied experiences emphasizing the discussions at each stage of this GM2 EL-PFDD.

View the video, On Demand, and submit your comments below to be included in the “Voice of the Patient Report.” The comment period will remain open until March 15, 2024.

NTSAD represents and stands with the global GM2 Tay-Sachs and Sandhoff community as we bring the family and patient voices forward throughout this vital, critical and impactful meeting in front of the FDA, industry and those professionals dedicated to developing potential therapies for GM2.

Submit Your Comments Below

Submit a comment below on the topics discussed during the GM2 EL-PFDD meeting using the questions below as a guide. Comments should be submitted individually. The comment period will close March 15, 2024.

The comments collected may be used in the final “Voice of the Patient” report (with identifying information removed).

If you are a parent or caregiver of a child with GM2 (Tay-Sachs or Sandhoff):

  • Which GM2 symptoms have the most significant impact on your child’s life?
  • How does GM2 affect your child on his/her best and worst days? Describe his/her best and worst days.
  • What specific activities is your child is unable to do at all or has difficulty doing because of GM2?
  • How have your child’s symptoms changed over time? How has his/her/your ability to cope with the symptoms changed over time?
  • What do you fear the most as your child progresses? What worries and frustrates you most about his/her condition?
  • What are you currently doing to manage your child’s GM2 symptoms?
  • How well do your current disease management interventions address your child’s most significant symptoms of GM2?
  • What are the most significant downsides to your child’s current interventions and how do they affect your daily life?
  • Short of a complete cure, what specific things would you look for in an ideal treatment for GM2?

If you are an adult with GM2 (Tay-Sachs or Sandhoff):

  • Which GM2 symptoms have the most significant impact on your life?
  • How does GM2 affect you on your best and worst days? Describe your best and worst days.
  • What specific activities, that are important to you, that you cannot do at all or as fully as you would like because of GM2?
  • How have your symptoms changed over time? How has your ability to cope with the symptoms changed over time?
  • What do you fear the most as you get older? What worries and frustrates you most about your condition?
  • What are you currently doing to manage your GM2 symptoms?
  • How well do these disease management interventions address the most significant symptoms of your GM2?
  • What are the most significant downsides to your current interventions and how do they affect your daily life?
  • Short of a complete cure, what specific things would you look for in an ideal treatment for GM2?

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