One-Person trial aims to tackle rare genetic brain disease
NCT ID NCT07222371
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.
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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Rady Children's Hospital San Diego
San Diego, California, 92123, United States