An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for ATN1 Gene Mutation
Trial Snapshot
- Phase
- Phase 1
- Status
- Active, not recruiting
- Sponsor
- n-Lorem Foundation
- Enrollment
- 1
- Locations
- 1
- Primary Endpoint
- Ataxia
Study Overview
Brief 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
Detailed Description
This is an interventional study to evaluate the safety and efficacy of treatment with an individualized antisense oligonucleotide (ASO) treatment in a single participant with DRPLA due to a heterozygous pathogenic CAG trinucleotide expansion in ATN1
Study Design
- Study Type
- Interventional
- Allocation
- Na
- Intervention Model
- Single Group
- Primary Purpose
- Treatment
- Masking
- None
Eligibility Criteria
- Ages
- 17 Years to 17 Years (Child)
- Sex
- Male
- Accepts Healthy Volunteers
- No
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.
Arms & Interventions
Open Label
Intervention: nL-ATN1-002 (Drug)
Outcomes
Primary Outcomes
Ataxia
Time Frame: Baseline to 24 months
Change in mobility and ataxia from baseline to 6-, 12-, 18- and 24-months post nL-ATN1-002 administration as measured by home gait video assessment (reviewed by blinded rater using gait and stance rating criteria from the SARA).
Secondary Outcomes
- Seizures(Baseline to 24 months)
- Quality of Life(Baseline to 24 months)
- Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability](Baseline to 24 months)
- Incidence of Treatment-Emergent abnormalities in physical and neurological exams [Safety and tolerability](Baseline to 24 months)
- Incidence of Treatment-Emergent abnormalities in safety labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and tolerability](Baseline to 24 months)