Gene therapy hope for rare brain disease in children
NCT ID NCT04283227
First seen Jun 26, 2026 · Last updated Jun 26, 2026
Summary
This study tests a single infusion of OTL-200 gene therapy in 6 people with late juvenile metachromatic leukodystrophy (MLD), a rare genetic disease that damages the brain and nerves. The therapy uses the patient's own blood stem cells, modified to produce a missing enzyme. Researchers will follow participants for 8 years to see if the treatment is safe and can 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
- OTL-200 gene therapy
- What this could lead to
- If successful, this could provide a one-time treatment that slows or stops the progression of late juvenile MLD, a severe and rare brain disease.
- What could go wrong
- This is a very small early-phase trial with only 6 participants, so results may not apply to everyone. Gene therapies can have unexpected side effects, and long-term benefits are not yet proven.
This is an AI summary of the original study and may miss details. Read our disclaimer.
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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
-
Ospedale San Raffaele - Telethon Institute for Gene Therapy (OSR-TIGET)
Milan, 20132, Italy
More trials for these conditions
Other studies related to the condition(s) this trial covers.
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- Newborn screening study aims to catch rare diseases at birth
- Experimental enzyme therapy tested in rare brain disease after transplant
- Gene therapy shows promise for rare fatal brain disease in kids
- Major study tracks rare brain diseases to unlock their secrets
- Experimental gene therapy aims to fix cystinosis at the source