Custom-Made genetic drug targets rare brain disease in first human test
NCT ID NCT07084311
First seen Jul 13, 2026 · Last updated Jul 14, 2026 · Updated 1 time
Summary
This study tests a personalized medicine called an antisense oligonucleotide, designed specifically for one person with dentatorubral-pallidoluysian atrophy (DRPLA), a rare genetic brain disorder. The treatment aims to reduce seizures and improve quality of life by targeting the underlying genetic mutation. Only one participant is enrolled, making this a highly individualized experimental approach.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- nL-ATN1-002 (personalized antisense oligonucleotide)
- What this could lead to
- If successful, this approach could point toward a treatment for DRPLA, a rare and devastating genetic brain disorder with no current cure.
- What could go wrong
- This is an 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.
Study facts
What this study's own registry entry says, in plain language.
- Phase
-
Phase 1/2
Runs two stages together: safety and dose first, then whether the treatment works.
- Participants
-
1 person
The number who actually took part.
- Started
-
Oct 2024
- Expected to finish
-
Nov 2026
An estimate. End dates often move.
- Lead sponsor
-
Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
-
29 to 29 years
- Sex
-
Female participants only
- Healthy volunteers
-
Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * Informed consent/assent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s). * Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records. * Clinical phenotype and neuroimaging consistent with a diagnosis of ATN1 mutation associated Dentatorubral-pallidoluysian atrophy (DRPLA). * Documented genetic mutation in ATN1. Exclusion Criteria: * Participant has any known contraindication to or unwillingness to undergo lumbar puncture. * Use of investigational medication within 5 half-lives of the drug at enrollment. * Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.
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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
Locations
-
Hawaii Pacific Neuroscience
Honolulu, Hawaii, 96817, United States
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