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.
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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
Locations
-
Massachusetts General Hospital, Center for Rare Neurological Diseases
Boston, Massachusetts, 02114, United States
-
University of Massachusetts Medical Health Center
Worcester, Massachusetts, 01655, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- Can a repurposed drug slow rare childhood brain diseases?
- New pill shows promise for rare brain disorders in early trial
- Small study tracks rare disease to pave way for future treatments
- Scientists track rare brain diseases to pave way for future cures
- Major study tracks rare brain diseases to unlock their secrets
- Hope fades: trial of Tay-Sachs drug venglustat terminated early