Leading the Fight to treat and cure
Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

GM2, GM1 Gene Therapy Programs Licensed

Last month we shared the exciting news from UMass Medical School (UMMS) about a significant grant that they received to advance the work of the Tay-Sachs Gene Therapy Consortium (TSGT).

There is another significant announcement that Axovant Sciences, Inc. announced they are licensing the GM1 and GM2 gene therapy programs from UMMS. 

Read Axovant’s press release here

Why is this fantastic news? 

Axovant has the expertise, experience, and financial resources to partner with UMMS and NIH to implement the clinical trials, work with the regulatory authorities, and hopefully, if successful, make the gene therapy available more broadly.

We are thrilled to learn that Axovant will lead the development for the GM2 and GM1 gene therapy programs. NTSAD looks forward to helping them move forward as the leading patient advocacy group for Tay-Sachs, Sandhoff and GM1 diseases.

We want to acknowledge the significant role of the Cure Tay-Sachs Foundation as an equal funding partner along with NTSAD over the years, and the Blu Genes Foundation for their most recent major gift to the UMass Medical School gene therapy research.

We particularly want to acknowledge the work of Doug Martin, PhD, of Auburn University, who worked closely with Miguel Sena-Esteves, PhD, Heather Gray Edwards, PhD, and the team at UMass Medical School. The research results in the animal models, which Doug led at Auburn, provided essential validation of the results for these gene therapy programs.

We are grateful for everyone's passion and commitment over the last 11 years. It takes a village - a mighty and rare community to move mountains. And we're almost there.

Since 2007, over $2 million of Research Initiative gifts we've received from you have gone to fund the work of the Tay-Sachs Gene Therapy Consortium (Miguel Sena-Esteves, PhD, Doug Martin, PhD, Heather Gray-Edwards, PhD, Florian Eichler, MD, Professor Tim Cox and Tom Seyfried, PhD).

There have been an additional $800,000 in grants awarded to other investigators for relevant grants in related gene therapy, biomarker, and natural history studies in all of our diseases. 

NTSAD grants that have supported gene therapy include: 

* animal studies from mice to cats to Jacob Sheep 

* the care for the herd of Jacob Sheep 

* gene therapy vector development and subsequent validation studies 

* biomarker research 

* natural history studies 

* pilot assay for Tay-Sachs newborn screening 

* toxicology and efficacy studies 

Each step of progress is a step for all the families and every one is tied to the everlasting legacies of all the children and adults who are no longer with us.


What is gene therapy?

The goal of gene therapy is to restore the missing enzyme by introducing the correct genetic code so proper enzyme production can occur. The correct genetic code may be delivered in various ways but the most common approach uses a viral vector. The non-disease-causing virus is genetically altered to contain the missing genetic code and is used as a vehicle to introduce the correct genetic information and thereby begin proper enzyme production.

Learn more about the development of clinical trials for gene therapy programs for GM2, GM1 and Canavan Clinical Trials.

Clinical Trials FAQs

We have answered a few anticipated questions regarding clinical in trials in general. Read through them here. If you have more questions, please email Diana here.

Help Research

Shared data is an immensely important tool for understanding our community and will greatly impact the path of clinical trial readiness. The FDA looks for as much of this data as possible as they consider approving clinical trials.​ Thank you for helping!

GM1 PIN here

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Canavan PIN here