Rare Diseases: Case Study Of A Patient Advocacy Group And Gene Therapy

The influence of patient advocacy groups on developing new treatments for rare diseases is powerful. The trend is for patient advocacy groups to provide large capital investment in preclinical and clinical research programs for the purpose of providing new treatment options for rare diseases. One such patient advocacy group is the National Tay-Sachs and Allied Diseases Association (NTSAD).

On June 13, 2013, NTSAD announces that the FDA grants the organization Orphan Drug Designation (ODD) for the development of the first-ever gene therapy treatment for two rare diseases, Tay-Sachs and Sandhoff. The gene therapy in development corrects an enzyme deficiency that causes the progressive neurodegeneration in both diseases. The experimental gene therapy uses adeno-associated virus (AAV)-based gene therapy. The Tay-Sachs Gene Therapy (TSGT) Consortium research team is currently completing pre-clinical studies in advance of a Phase I clinical trial. TSGT is a multidisciplinary academic team founded in 2007, with the mission to advance human clinical trials in the quest for a gene therapy treatment for Tay-Sachs and Sandhoff diseases.

NTSAD is one of the oldest patient advocacy groups in the US, founded more than 50 years ago by parents whose children were affected by Tay-Sachs and other LSDs. The organization supports research through the Research Initiative and other collaborative programs. NTSAD “pioneered the development of community education about carrier screening programs for Tay-Sachs and related diseases, which became models for all genetic diseases.”

Tay-Sachs and Sandhoff are Lysosomal Storage Diseases (LSDs), a group of more than fifty genetically inherited disorders, characterized by the deficiency of an enzyme that prevents the proper breakdown of undigested material inside cells. This results in the accumulation of substrate in tissues and organs of the body causing these organs to function less efficiently, resulting in progressive deterioration. No cure currently exists for Tay-Sachs and Sandhoff diseases.

Tay-Sachs is a LSD caused by the absence of an enzyme called beta-hexosaminidase. It is the Hexosaminidase A (Hex-A) gene that provides instructions for making this enzyme. Without the correct amount of Hex-A, a fatty substance (GM2 ganglioside) accumulates abnormally in cells – especially in nerve cells of the brain. This continuous accumulation causes progressive damage to the cells leading to neurological disorders.

Sandhoff Disease is a LSD caused by the absence of two enzymes – Hexosaminidase A (Hex A) and Hexosaminidase B (Hex B). Without both enzymes, GM2 ganglioside accumulates abnormally in cells, resulting in progressive neurodegeneration .

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