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Active, Not Recruiting

NCT Number: NCT06706388

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

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

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Dentatorubral-Pallidoluysian Atrophy Brain Diseases Central Nervous System Diseases Epilepsies, Myoclonic Epilepsy Epilepsy, Generalized Epileptic Syndromes Myoclonic Epilepsies, Progressive Nervous System Diseases

Age range

17 year–17 year

Sex eligibility

Male

Study type

Interventional

Phase

Phase 1 / Phase 2

Primary location

Columbia University

New York, 10027, United States

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

nL-ATN1-002

Drug

Personalized antisense oligonucleotide

Primary outcomes

  1. 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 the Scale for Assessment and Rating of Ataxia (SARA).

  2. 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 wrist/ankle accelerometers (peak velocity, peak acceleration, movement entropy).

  3. 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

  1. Seizures

    Time frame: 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.

  2. Quality of Life

    Time frame: 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 Activities of Daily Living questionnaire (ADL).

  3. Quality of Life

    Time frame: 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).

  4. Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability]

    Time frame: Baseline to 24 months

  5. Incidence of Treatment-Emergent abnormalities in physical and neurological exams [Safety and tolerability]

    Time frame: Baseline to 24 months

  6. Incidence of Treatment-Emergent abnormalities in safety labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and tolerability]

    Time frame: Baseline to 24 months

Sponsors and collaborators

Lead sponsor

n-Lorem Foundation

Other

Collaborators

  • Columbia University

Registry information

Official study title

An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for ATN1 Gene Mutation

Important dates

Study start
2024
Primary completion
2027
Study completion
2027
First posted
Nov 26, 2024
Registry last updated
Apr 9, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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