Personalized Antisense Oligonucleotide for A Single Participant With ATN1 Gene Mutation (NCT07084311) | Clinical Trial Compass
Active — Not RecruitingPhase 1/2
Personalized Antisense Oligonucleotide for A Single Participant With ATN1 Gene Mutation
United States1 participantsStarted 2024-10-24
Plain-language summary
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with dentatorubral-pallidoluysian atrophy (DRPLA) due to a heterozygous pathogenic CAG trinucleotide expansion in ATN1
Who can participate
Age range29 Years – 29 Years
SexFEMALE
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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.