Personalized Antisense Oligonucleotide for A Single Participant With ATN1 Gene Mutation

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

Status

Active, not recruiting

Phases

Phase 1Phase 2

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT07084311

Enrollment

Registered

2025-07-24

Start date

2024-10-24

Completion date

2026-11-01

Last updated

2026-07-13

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Dentatorubral-Pallidoluysian Atrophy

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

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

Interventions

DRUGnL-ATN1-002

Personalized antisense oligonucleotide

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

TREATMENT

Masking

NONE

Eligibility

Sex/Gender

FEMALE

Age

29 Years to 29 Years

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame	Description
Seizures	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)

Secondary

Measure	Time frame	Description
Quality of Life and Caregiver Burden	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)
Health Status	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)
Incidence and Severity of Treatment Emergent Adverse Events [Safety and Tolerability]	24 months	—
Incidence of Treatment-Emergent Abnormalities in Physical and Neurological Exams [Safety and Tolerability]	24 months	—
Incidence of Treatment-Emergent Abnormalities in Safety Labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and Tolerability]	24 months	—

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Jul 14, 2026