One-Time gene infusion offers hope for rare brain disease

NCT ID NCT04283227

First seen Nov 01, 2025 · Last updated May 14, 2026 · Updated 29 times

Summary

This study tests a one-time gene therapy called OTL-200 in 6 people with late juvenile metachromatic leukodystrophy (MLD), a rare genetic disease that damages the brain and nerves. The treatment uses the patient's own blood stem cells, modified to produce a missing enzyme, and aims to slow or stop disease progression. Participants are monitored for safety and changes in brain health over time.

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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.

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Contacts and locations

Locations

  • Ospedale San Raffaele - Telethon Institute for Gene Therapy (OSR-TIGET)

    Milan, 20132, Italy

Conditions

Explore the condition pages connected to this study.