Sue Kahn, Executive Director, and Diana Pangonis, Director of Family Services, recently met with the team who conducted the Late Onset focus groups and neurological assessments at the 2015 Annual Family Conference in Reston, Virginia. Gerry Cox, MD, Florian Eichler, MD, Alaa Hamed, MD, Julie Kissell, CGC, Swati Sathe, MD, and Cynthia Tifft, MD, PhD, were involved in these focus groups and neurological assessments to gain a better understanding of the progression and effects of Late Onset Tay-Sachs and Late Onset Sandhoff diseases. 

At the meeting, Dr. Cox and Dr. Hamed shared summaries of the data analyzed that were collected in those focus groups. The assessments focused on how the disease affects patients from the physical side (gait, dexterity, speech). The data and measurements can be used effectively for a trial as they correlate well with measures of disease progression. At the conclusion of the meeting, the team of clinician researchers suggested meeting every other week to make progress on the next steps involved in understanding natural history and clarifying clinical outcome measures.

One take-away was how important it is for researchers, pharmaceutical companies and the FDA to understand a rare genetic disease, the number of individuals and families affected worldwide, as well as its progression and its impact on an individual/family in order to move forward with developing a therapy.

If you are an individual/family affected by Tay-Sachs, Canavan, GM1 or Sandhoff disease in any of their forms (infantile, juvenile, or late onset) and haven't connected formally with NTSAD, please download this form here and email it to Diana Pangonis at diana@ntsad.org. 

Being part of this process is being a part of research that could very well lead to an effective therapy for these diseases!