Experimental gene therapy targets Tay-Sachs and sandhoff in kids
NCT ID NCT04669535
First seen Jun 26, 2026 · Last updated Jun 26, 2026
Summary
This early-stage trial tested a gene therapy called AXO-AAV-GM2 in children with Tay-Sachs or Sandhoff disease, rare and fatal genetic brain disorders. The therapy delivers healthy genes directly into the brain and spinal fluid to try to restore a missing enzyme. The study was terminated early, so results are limited, but it aimed to find a safe dose and see if the treatment could slow the disease.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
Active substance
AXO-AAV-GM2 (a gene therapy using a harmless virus to deliver working copies of the HEXA and HEXB genes)
What this could lead to
If successful, this gene therapy could slow or stop the progression of these fatal brain diseases in children, offering a chance at longer and better lives.
What could go wrong
This was a very early (Phase 1) trial with only 9 participants, and it was terminated early. The therapy involves brain injections, which carry serious risks like infection or brain injury. It is not yet proven to work.
Disclaimer
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This is a summary of
the original study
.
Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Locations
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Massachusetts General Hospital, Center for Rare Neurological Diseases
Boston, Massachusetts, 02114, United States
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University of Massachusetts Medical Health Center
Worcester, Massachusetts, 01655, United States