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.
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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Ospedale San Raffaele - Telethon Institute for Gene Therapy (OSR-TIGET)
Milan, 20132, Italy