Personalized Antisense Oligonucleotide Therapy for a Single Participant with ATN1 Gene Mutation

Phase 1

Active, not recruiting

• Conditions: Dentatorubral-Pallidoluysian Atrophy
• Interventions: Drug: nL-ATN1-002

• Registration Number: NCT06706388
• Lead Sponsor: n-Lorem Foundation

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 Timeline

• Study Start: 2024-02-21
• Status Verified: 2024-11
• Study First Submitted: 2024-11-21
• Study First Submitted QC: 2024-11-22
• Last Update Submitted: 2024-11-22
• Study First Posted: 2024-11-26
• Last Update Posted: 2024-11-26
• Primary Completion: 2026-02
• Study Completion: 2026-02

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: Male
• Target Recruitment: 1

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Open Label	nL-ATN1-002	-

Primary Outcome Measures

Name	Time	Method
Ataxia	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 Outcome Measures

Name	Time	Method
Seizures	Baseline to 24 months	Change in seizure frequency and length of seizures, as well as seizure medication use, from baseline to 12- and 24-months post nL-ATN1-002 administration as measured by caregiver seizure diary tracking.
Quality of Life	Baseline to 24 months	Change in quality of life from baseline to 6-, 12-, 18- and 24-months post nL-ATN1-002 administration as measured by the Caregiver Global Impression of Change questionnaire (CGI-C).
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

Trial Locations

Locations (1)

Columbia University; 🇺🇸 New York, New York, United States