Personalized Antisense Oligonucleotide for A Single Participant With ATN1 Gene Mutation

July 9, 2026 updated by: n-Lorem Foundation

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

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

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

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 Type

Interventional

Enrollment (Actual)

1

Phase

  • Phase 2
  • Phase 1

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Hawaii
      • Honolulu, Hawaii, United States, 96817
        • Hawaii Pacific Neuroscience

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult

Accepts Healthy Volunteers

No

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Open Label
Drug: nL-ATN1-002
Personalized antisense oligonucleotide

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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)
Baseline to 24 months
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).
Baseline to 24 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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)
24 months
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)
24 months
Incidence and Severity of Treatment Emergent Adverse Events [Safety and Tolerability]
Time Frame: 24 months
24 months
Incidence of Treatment-Emergent Abnormalities in Physical and Neurological Exams [Safety and Tolerability]
Time Frame: 24 months
24 months
Incidence of Treatment-Emergent Abnormalities in Safety Labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and Tolerability]
Time Frame: 24 months
24 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

n-Lorem Foundation

Collaborators

Hawaii Pacific Neuroscience

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 24, 2024

Primary Completion (Estimated)

November 1, 2026

Study Completion (Estimated)

November 1, 2026

Study Registration Dates

First Submitted

May 8, 2025

First Submitted That Met QC Criteria

July 16, 2025

First Posted (Actual)

July 24, 2025

Study Record Updates

Last Update Posted (Actual)

July 13, 2026

Last Update Submitted That Met QC Criteria

July 9, 2026

Last Verified

July 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Pro00081366

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

Yes

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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