One-Person trial aims to tackle rare genetic brain disease

NCT ID NCT07222371

Ongoing Disease control Sponsor: University of California, San Diego Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study tests a custom-made drug called an antisense oligonucleotide in a single person with TUBB4A-related leukodystrophy, a rare genetic disorder that affects the brain's white matter. The drug is designed to target the specific genetic mutation causing the disease. Researchers will measure changes in movement, dystonia (involuntary muscle contractions), and daily functioning over time.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance: personalized antisense oligonucleotide (nL-TUBB4-001)
What this could lead to: If it works, this could point toward a treatment for TUBB4A-related leukodystrophy, a rare genetic brain disorder.
What could go wrong: This is a very early, single-participant study, so results may not apply to others. The treatment is experimental and risks are unknown.

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.

hereditary disease TUBB4A-related neurologic disorder

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

GENETIC DISEASE TUBB4A-RELATED LEUKODYSTROPHY

Contacts and locations

Locations

Rady Children's Hospital San Diego

San Diego, California, 92123, United States

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