Leading the worldwide fight to treat and cure
Tay-Sachs, Canavan, GM1 and Sandhoff diseases

Gene Therapy

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.

What is the Current Status of Gene Therapy?

The Tay-Sachs Gene Therapy (TSGT) Consortium was formed in 2007 with the goal of initiating a gene therapy clinical trial for Tay-Sachs disease and Sandhoff disease. The research is in pre-clinical development stages. Read more about The Tay-Sachs Gene Therapy (TSGT) Consortium Results and Progress toward a Cure.

Since the early 1980s over 20 children have received experimental Canavan gene therapy. Many parents feel that gene therapy helped their child. The results have been published. Available to download here.

A different type of gene therapy for Canavan has recently shown very exciting results in Canavan mice. NTSAD is delighted to partner with the Canavan Research Foundation to fund this project. Visit our Research Initiative page to learn more about this project and other promising efforts funded by NTSAD.

In 2008 the world's first gene therapy for inherited blindness showed sight improvement. The findings are a landmark for gene therapy technology.

What are the Challenges to a Gene Therapy?

Gene therapy has a lot of promise to cure but the Food and Drug Administration (FDA) has not yet approved any gene therapy for market in the United States. The first gene therapy treatment was approved in Europe in November 2012. It is a treatment for patients with a lipoprotein lipase deficiency. Some of the challenges to develop a safe and effective gene therapy include:

  • difficulty of creating effective vectors for gene delivery to the brain
  • need to introduce the gene into a large number of cells to be effective
  • challenge of inserting the genes into the appropriate brain cells
  • potential for an oncogenic (cancer) event to occur as a result of the insertion of the gene into the cell's chromosomes

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