Personalized Antisense Oligonucleotide Therapy for A Single Participant With ATN1 Gene Mutation

NCT06706388 | Active Not Recruiting Phase 1 DMC FDA Drug

• 1 other identifier: AAAV0657
• Study Type: interventional
• Target: 1
• Locations: 1 country
• Sites: 1

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

Conditions

Dentatorubral-Pallidoluysian Atrophy

Outcome Measures

Primary Outcomes (3)

• Ataxia

  Change in mobility and ataxia from baseline to 6-, 12-, 18- and 24-months post nL-ATN1-002 administration as measured by the Scale for Assessment and Rating of Ataxia (SARA).

  Baseline to 24 months

• Ataxia

  Change in mobility and ataxia from baseline to 6-, 12-, 18- and 24-months post nL-ATN1-002 administration as measured by wrist/ankle accelerometers (peak velocity, peak acceleration, movement entropy).

  Baseline to 24 months

• Ataxia

  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).

  Baseline to 24 months

Secondary Outcomes (6)

• Seizures

  Baseline to 24 months

• Quality of Life

  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

Study Arms (1)

Open Label

EXPERIMENTAL

Drug: nL-ATN1-002

Interventions

nL-ATN1-002 DRUG

Personalized antisense oligonucleotide

Open Label

Eligibility Criteria

• Age: 17 Years - 17 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• n-Lorem Foundation: lead
• Columbia University: collaborator

Study Sites (1)

Columbia University

New York, New York, 10027, United States

Location

MeSH Terms

Conditions

Myoclonic Epilepsies, Progressive

Condition Hierarchy (Ancestors)

Epilepsies, Myoclonic; Epilepsy, Generalized; Epilepsy; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Epileptic Syndromes

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 21, 2024
• First Posted: November 26, 2024
• Study Start: February 21, 2024
• Primary Completion (Estimated): February 1, 2027
• Study Completion (Estimated): February 1, 2027
• Last Updated: April 9, 2026

Record last verified: 2026-04

Locations

US (1)