Therapies

There is currently no cure or effective treatment for Tay-Sachs and Sandhoff diseases.

Even with the best care, it is expected that children with infantile Tay-Sachs disease will die in early- to mid-childhood, and those with the juvenile form will die in adolescence. Improvements in life-extending care have somewhat lengthened the survival of children with Tay-Sachs and Sandhoff diseases.

Patients receive supportive care to manage symptoms and improve quality of life. In Late-onset Tay-Sachs and Sandhoff diseases, medication can sometimes control psychiatric symptoms and seizures to make the individual more comfortable.

Current Clinical Management

Clinical treatment of Tay-Sachs and Sandhoff diseases focuses on managing symptoms of the disease. As the way the diseases presents varies between individuals, so does the treatment of those symptoms.

Treatment requires involvement from a number of specialists, both in medical and allied health professions. Each of these specialists will focus on the symptoms they have expertise with. Ideally, the specialists should coordinate between one another to ensure their individual approaches are compatible.

Many individuals with Tay-Sachs or Sandhoff disease will experience the following treatments:

  • Due to the potential of feeding difficulties, nutritional support and supplementation, including the insertion of a feeding tube are commonly provided to ensure adequate nutrition, hydration, and administration of medications. See Feeding under ‘Caring for your child or loved one’ for further information.
  • As many individuals experience seizures, anti-convulsant medications are often administered. The medication type and dosage are tailored to the symptoms experienced by each individual.

Emerging Therapies

The development of targeted pharmaceutical and genetic therapies for Tay-Sachs and Sandhoff diseases is an active pursuit of medical scientists globally. As a result, a number of promising treatment avenues have been identified and may be relevant to the current or future care of your child or loved one.

If experimental or emerging therapies are appropriate for your child or loved one, your medical team will discuss these with you.

Increasingly, these emerging therapies are known as targeted. This means that they are drugs or other substances that have a very specific approach, interfering with specific molecules and leaving those that are still functioning normally.

Examples of these therapies include chaperone, enzyme replacement, gene replacement (gene transfer), gene editing and substrate reduction therapies. Research into these therapies, and their application for Tay-Sachs and Sandhoff diseases is ongoing.

Enzyme replacement therapy (ERT)

Enzyme replacement therapy, or ERT, involves replacing a missing enzyme in individuals who are deficient or lack a particular enzyme. This approach is used to treat some lysosomal disorders, and scientists are attempting to develop similar approaches for individuals with Tay-Sachs and Sandhoff disease.

Genetic Therapies (Gene transfer and gene editing)

Gene transfer (or gene addition) therapy involves the replacement of a defective gene with a normal working copy of the gene to restore cell function and correct disease.  This enables the production of active enzyme and prevents the development and progression of the disease in question.

Gene editing refers to technology which enables correction of the disease-causing genetic mistake within a living cell. You might hear this referred to as “CRISPR”.

Scientists are attempting to develop gene transfer and gene editing technologies as a therapy for Tay-Sachs and Sandhoff disease, however such approaches are not currently available treatments.

Chaperone therapy

Chaperone therapy involves the development of specific medications which improve the function of the individual’s faulty B-hexosaminidase enzyme, by stabilising it and helping it to reach the lysosome where it can then act to catabolise GM2 ganglioside.

Scientists are attempting to develop mutation specific chaperon drugs, and some agents have already been trialled in patients with Tay-Sachs and Sandhoff disease.

Substrate reduction therapy

Substrate reduction therapy involves development of specific medications which help reduce the amount of GM2 ganglioside (substrate) within the cells of people with Tay-Sachs and Sandhoff disease. This helps their own faulty enzyme work more efficiently as it has less work to do to prevent further build-up of GM2 ganglioside.

Scientists are attempting to develop effective substrate reduction drugs, and some agents have already been trialled in patients with Tay-Sachs and Sandhoff disease.

Current Clinical Trials

In November 2020, ‘Sui Gene Therapies‘ (previously known as Axovant), received Investigational New Drug (IND) clearance from the US Food and Drug Administration (FDA) for their Adeno Associated Virus (AAV) based gene therapy ( ‘AXO-AAV-GM2’). This milestone marks the first investigational gene therapy to receive an IND and is a positive step in the development of future therapies for Tay-Sachs and Sandhoff disease.

It is exciting to see these steps being taken and is imperative that we continue to support research for all potential therapies to increase positive outcomes for our community.

Rare Find information iconFurther Information

The above descriptions are summarised from the following websites, where you can find further information:

Additional further information can be found at the following websites: