Tay-Sachs disease

Treatment

What are the first steps after an initial diagnosis of Tay-Sachs syndrome?

After a diagnosis of Tay-Sachs disease is confirmed, families should seek a medical consultation with a physician such as a metabolic genetic specialist with experience in the disorder. Support groups such as the National Tay-Sachs and Allied Diseases Association or the the Center for Jewish Genetics can sometimes provide referrals to physicians or medical centers with experience in treating Tay-Sachs disease.

People diagnosed with Tay-Sachs disease will go through a series of tests to see how far along the disease is. These tests will tell a physician what parts of the body are affected and to what extent. Other initial steps will depend on how the disorder is affecting a person. Families should see a genetic counselor to help understand the genetic aspects of this disorder.

References
  • Kaback MM, Desnick RJ. Hexosaminidase A Deficiency. GeneReviews website. Accessed September 20, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1218/
  • The National Tay-Sachs & Allied Diseases Association website. https://www.ntsad.org/index.php
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More Treatment Content

Is there a treatment for Tay-Sachs disease?

Are there other organ specific treatments/symptom specific treatments for Tay-Sachs disease?

What new treatments are being studied for Tay-Sachs disease?

Is there a treatment for Tay-Sachs disease?

While there is no cure for Tay-Sachs disease, the treatment is supportive and aimed at making sure the child gets enough nutrition and stays hydrated. A feeding tube may help make sure a child gets enough food, water, and nutrition and help prevent food or water from getting in the lungs. It is also important to prevent sickness or infection as much as possible and protect the airway. If seizures develop, medications that prevent seizures, called anticonvulsants, can be given. Research is ongoing to find more effective treatment options and potentially a cure for Tay-Sachs disease.

References
  • Tay-Sachs Disease. The National Organization for Rare Disorders website. Accessed September 20, 2016. http://rarediseases.org/rare-diseases/tay-sachs-disease/
  • Kaback MM, Desnick RJ. Hexosaminidase A Deficiency. GeneReviews website. Accessed September 20, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1218/
Are there other organ specific treatments/symptom specific treatments for Tay-Sachs disease?

Supportive therapies can be used to treat specific symptoms of Tay-Sachs disease. Children may benefit from physical therapy to maintain their muscles and special education classes and speech therapy to help with their language and communication. If the child has seizures, they may be treated with anti-seizure medications. Medications can also be used to treat muscle stiffness. A feeding tube (G-tube) may be needed to help the child get enough food and liquids if they have problems with eating or swallowing.

References
  • Kaback MM, Desnick RJ. Hexosaminidase A Deficiency. GeneReviews website. Accessed September 20, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1218/
What new treatments are being studied for Tay-Sachs disease?

A few different therapies are being explored as potential treatments for Tay-Sachs disease. These include gene therapy, stem cell therapy, enzyme replacement therapy, substrate inhibition, and pharmalogical chaperone therapy. Gene therapy replaces the defective gene in a person with an unaffected one that can produce the necessary hexosaminidase A enzyme. As of October 2016, gene therapy has not been approved by the U.S. Food and Drug Administration for the treatment of any disorder. Enzyme replacement therapy replaces the hexosaminidase A enzyme with a synthetic version engineered in a laboratory. Enzyme replacement therapy has been successful in treating other lysosomal storage diseases, but has been ineffective so far for Tay-Sachs disease. Substrate reduction therapy refers to attempts to lower the levels of the toxic materials that build up in Tay-Sachs disease. Pharmacological chaperone therapy uses drugs that stabilize and guide (chaperone) an ineffective enzyme to the proper place so it can perform its normal functions.

Studies into these treatments are ongoing. Visit ClinicalTrials.gov for information on current trials. The National Tay-Sachs & Allied Diseases Association can provide information on research efforts into Tay-Sachs disease.

References
  • Kaback MM, Desnick RJ. Hexosaminidase A Deficiency. GeneReviews website. Accessed September 20, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1218/

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