One-person trial aims to slow rare brain disease with custom genetic drug

NCT ID NCT07222371

First seen Oct 31, 2025 · Last updated May 16, 2026 · Updated 28 times

Summary

This study tests an experimental genetic medicine (antisense oligonucleotide) in a single person with TUBB4A-related leukodystrophy, a rare brain disorder that affects movement. The goal is to see if the treatment can improve or stabilize motor function and reduce dystonia (involuntary muscle contractions). The participant will be closely monitored over time using standard movement and behavior scales.

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Contacts and locations

Locations

  • Rady Children's Hospital San Diego

    San Diego, California, 92123, United States

Conditions

Explore the condition pages connected to this study.