Custom drug targets rare genetic brain disease in First-Ever human test
NCT ID NCT06706388
First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study tests a custom-made drug called an antisense oligonucleotide (ASO) designed for one person with dentatorubral-pallidoluysian atrophy (DRPLA), a rare genetic disorder that affects movement and brain function. The drug aims to reduce the harmful effects of the mutated ATN1 gene. The single participant will be monitored for changes in ataxia (loss of muscle control), seizures, and quality of life over two years.
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-ATN1-002)
- What this could lead to
- If it works, this could point toward a treatment for DRPLA, a rare and severe genetic brain disorder.
- What could go wrong
- This is an early-stage, single-participant study, so results may not apply to others. The drug 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
-
Feb 2024
- Expected to finish
-
Feb 2027
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
-
17 to 17 years
- Sex
-
Male 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. * Genetically confirmed Dentatorubral-pallidoluysian atrophy (DRPLA) due to ATN1 mutation Exclusion Criteria: * Use of investigational medication within 5 half-lives of the drug at enrolment * Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for Dentatorubral-pallidoluysian atrophy are added.
Genom att skicka in godkänner du våra Användarvillkor
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
-
Columbia University
New York, New York, 10027, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.