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Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

GM-1 Research

GM-1 Reseach Overview

GM-1 is a lysosomal storage disorder. It is caused by a mutation in the gene responsible for a vital enzyme called betagalactosidase (β-gal). The role of β-gal is to degrade a fatty substance or lipid called GM-1 ganglioside. In the absence of β-gal, GM-1 accumulates abnormally in cells, especially in the nerve cells, or neurons, of the brain. This ongoing accumulation, or "storage", of GM-1 causes progressive damage and eventually death of the cells.

For more information see All about Lysosomal Storage Disorders.

For information on participating in a study, please visit Studies Recruiting Patients.

What is the latest with GM-1 Research?

Enzyme Replacement Therapy

Lectin-assisted transnasal delivery of corrective enzyme for GM-1 gangliosidosis research investigated by David Radin, PhD, Carole Cramer, PhD, and Alessandra d'Azzo, PhD – NTSAD funded project.

This study is being done in Mice with GM-1. They are investigating a mechanism where the β-gal enzyme can be delivered via the nasal passages, so the enzyme can be transported the brain. They will then compare this to the more traditional IV delivery of the same compound.

Learn more at 2014 Research Initiative Grant.

This study was described in the November 2015 NTSAD Research newsletter. Read it again!

Gene Therapy

Gene therapy research is being conducted at Auburn University by Doug Martin, PhD.

This research is being conducted in a colony of  cats which have GM-1. These cats were treated by using an AAV virus as the delivery mechanism for the correct genetic information. The results of this research are promising. Cats treated with gene therapy survive, on average, six times as long as those who are untreated. Half are still alive and are in good health; half developed seizures, which are well managed with medication. All cats are able to see and hear normally. 

Substrate reduction therapy: Zavesca® (miglustat) 

Clinical trials in babies, children and adults with Tay-Sachs and Sandhoff of the substrate inhibitor Zavesca® (miglustat) did not show therapeutic benefit. Zavesca is FDA approved for Gaucher which provides families affected by other lysosomal diseases the option of using the drug for off-label use. The FDA did not approve Zavesca®  for Niemann-Pick Type C (NPC) but this use was approved in Europe and Canada. 

Zavesca may have a small therapeutic effect on children affected by Juvenile GM-1. Contact our Executive Director at This email address is being protected from spambots. You need JavaScript enabled to view it. or (800) 906-8723 to learn more

The NTSAD Scientific Advisory Committee (SAC) subcommittee on experimental therapies recently reviewed the data regarding miglustat’s (Zavesca) safety and potential efficacy. View report on Substrate Reduction Therapy.

Off Label use study for Migulstat- currently recruiting participants

Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G) at University of Minnesota - Clinical trial #NCT02030015

This study has IRB approval, but it is not technically a clinical trial so does not have FDA approval.

The investigators are investigating a combination therapy using miglustat and the ketogenic diet for infantile and juvenile patients with gangliosidoses. Miglustat is a drug which was originally approved to help treat mild to moderate type 1 Gaucher disease (another lysosomal storage disorder.) Miglustat is an example of substrate reduction therapy, as described above. A ketogenic diet is a “high-fat, adequate-protein, low-carbohydrate diet.” One study found that this method improved the outcome for one patient with Sandhoff Disease. Researchers are now hoping to investigate this therapy in patients with Sandhoff, Tay Sachs and GM-1.

To learn more, including how to be part of this study please visit Studies Recruiting Patients.

Also see the case study in the European Journal of Medical Genetics

 

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