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Active, Not Recruiting

NCT Number: NCT07221760

Personalized Antisense Oligonucleotide for A Single Participant (nL62541) 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

22 year and older

Sex eligibility

Male

Study type

Interventional

Phase

Phase 1 / Phase 2

Primary location

Dell Children's

Austin, Texas, 78723, 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-ATN1-001

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) (changes in frequency of ictal and interictal discharges, evoked potentials, and changes in EEG background)

  2. 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 seizure tracking (changes in number and length of seizures)

  3. 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: Baseline to 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. Quality of Life and Caregiver Burden

    Time frame: Baseline to 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 Caregiver Global Impression of Change Questionnaire (CaGL-C)

  3. Health Status

    Time frame: Baseline to 24 months

    Change in comorbities 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)

  4. Dysphagia

    Time frame: Baseline to 24 months

    Change in swallow function and number of aspiration pneumonias (PNAs) from baseline to 12- and 24-months post nL-ATN1-002 administration as measured by Modified Barium Swallow Study (MBSS)

  5. Dysphagia

    Time frame: Baseline to 24 months

    Change in swallow function and number of aspiration pneumonias (PNAs) from baseline to 12- and 24-months post nL-ATN1-002 administration as measured by adverse events of aspiration PNAs

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

    Time frame: Baseline to 24 months

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

    Time frame: Baseline to 24 months

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

    Time frame: Baseline to 24 months

Other outcomes

  1. Developmental Skills

    Time frame: Baseline to 24 months

    Change in developmental skills from baseline to 6-, 12-, 18-, and 24- months post nL-ATN1-002 administration as measured by Developmental Profile 4 (DP-4) (physical, adaptive behavior, social-emotional, cognitive, and communication scores)

  2. Developmental Skills

    Time frame: Baseline to 24 months

    Change in developmental skills from baseline to 6-, 12-, 18-, and 24- months post nL-ATN1-002 administration as measured by Bayley Scales of Infant Development 4 (BSID-4) (cognition, communication, motor, and adaptive behavior scores)

  3. Developmental Skills

    Time frame: Baseline to 24 months

    Change in developmental skills from baseline to 6-, 12-, 18-, and 24- months post nL-ATN1-002 administration as measured by Observer Reported Communication Ability (ORCA)

  4. Ataxia

    Time frame: Baseline to 24 months

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

  5. Brain Changes

    Time frame: Baseline to 24 months

    Change in brain MRIs from baseline to 12- and 24- months post nL-ATN1-002 administration as measured by ventricular size on brain MRI

Sponsors and collaborators

Lead sponsor

n-Lorem Foundation

Other

Collaborators

  • Dell Children's Medical Center of Central Texas

Registry information

Official study title

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

Important dates

Study start
2025
Primary completion
2027
Study completion
2027
First posted
Oct 28, 2025
Registry last updated
Apr 7, 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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