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Active, Not Recruiting

NCT Number: NCT07084311

Personalized Antisense Oligonucleotide 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

29 year–29 year

Sex eligibility

Female

Study type

Interventional

Phase

Phase 1 / Phase 2

Primary location

Hawaii Pacific Neuroscience

Honolulu, Hawaii, 96817, 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.
  • 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.

Treatment and study plan

nL-ATN1-002

Drug

Personalized antisense oligonucleotide

Primary outcomes

  1. Seizures

    Time frame: Baseline to 24 months

    Change in seizure length from baseline to every 3 months post nL-ATN1-002 administration as measured by routine electroencephalography (EEG)

  2. Seizures

    Time frame: Baseline to 24 months

    Change in seizure frequency and seizure medication use from baseline to every 3 months post nL-ATN1-002 administration as measured by seizure tracking (reported with seizure dates and use of seizure medication).

Secondary outcomes

  1. Quality of Life and Caregiver Burden

    Time frame: 24 months

    Change in quality of life and caregiver burden from baseline to 6-, 12-, 18-, and 24- months post nL-ATN1-002 administration as measured by the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD)

  2. Health Status

    Time frame: 24 months

    Change in health issues from baseline to 6-, 12-, 18-, and 24-months post nL-ARN1-002 administration as measured by the Caregiver Priorities - Comorbidities and Health Evaluation Checklist (CPCHECKlist)

  3. Incidence and Severity of Treatment Emergent Adverse Events [Safety and Tolerability]

    Time frame: 24 months

  4. Incidence of Treatment-Emergent Abnormalities in Physical and Neurological Exams [Safety and Tolerability]

    Time frame: 24 months

  5. Incidence of Treatment-Emergent Abnormalities in Safety Labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and Tolerability]

    Time frame: 24 months

Sponsors and collaborators

Lead sponsor

n-Lorem Foundation

Other

Collaborators

  • Hawaii Pacific Neuroscience

Registry information

Official study title

An Open-label, Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for ATN1 Mutation Associated Dentatorubral-pallidoluysian Atrophy (DRPLA)

Important dates

Study start
2024
Primary completion
2026
Study completion
2026
First posted
Jul 24, 2025
Registry last updated
Jul 13, 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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