Rare Disease Report

NTSAD 2017 Research Grant Recipients

SEPTEMBER 24, 2017
The National Tay-Sachs & Allied Diseases (NTSAD) Association has given out 3 research grants this year to improve our understanding of these rare neurological conditions.

Tay-Sachs disease is a rare lysosomal disease due low levels of the enzyme hexosaminidase A. In patients with Tay-Sachs disease there is a build up of gangliosides that leads to mental and physical decline. In the most severe cases – infantile Tay-Sachs disease — children seldom live past the age of 3 or 4. In late-onset Tay-Sachs disease, symptoms (cognitive decline, gait changes, psychological problems) may begin to appear around the age of 30 or 40. A Juvenile form of the disease may also develop.

Other diseases that NTSAD in involved with include Canavan disease, GM1 gangioidosis, and Sandhoff disease.  There is currently no treatment for any of these conditions.

The recipients of this year’s NTSAD research awards were:

Alessandra Biffi, MD
Director, Gene Therapy Program; Dana-Farber/Boston Children’s Hospital Cancer and Blood Disorders Center; Boston, MA

Project: Proof of concept study of hematopoietic stem cells (HSC) gene therapy for Tay-Sachs disease

The project will test a novel gene therapy approach for Tay-Sachs disease  and Sandhoff disease with the potential for clinical translation. This gene therapy works by establishing a stable population of brain cells, which will serve as a sustained and balanced supply of the deficient enzymes in the patients.

Heather Gray-Edwards, PhD
Scott-Ritchey Research Center; Auburn University; Auburn, AL

Project: Minimally invasive delivery of AAV gene therapy in the Tay-Sachs Sheep.

The study will evaluate the efficacy and biodistribution of the state-of-the-art gene therapy in Tay-Sach disease sheep.

Tim Wood, PhD
Greenwood Genetic Center; Greenwood, South Carolina
Stephane Demotz, PhD
Dorphan; Lausanne, Switzerland

Project: Development of a quantitative method for the determination of a pentasaccharide in GM1-gangliosidosis patient cells to assess the potential therapeutic efficacy of a beta-galactosidase pharmacological chaperone drug candidate.

GM1-gangliosidosis and mucopolysaccharidosis IVB (MPS IVB) are caused by beta-galactosidase deficiency.  A preliminary study found a potential biomarker (a sugar molecule) for both GM1 and MPS IVB.  The findings from the proposed work will develop a quantitative means to analyze the sugar molecule and assess its validity as a biomarker for the diseases.

Since 2002, NTSAD has provide 56 research grants for a total of $3.8 million. To learn more about their research program, click here.

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