Personalized Antisense Oligonucleotide for A Single Participant (nL62541) With ATN1 Gene Mutation

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

Status

Active, not recruiting

Phases

Phase 1Phase 2

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT07221760

Enrollment

Registered

2025-10-28

Start date

2025-11-06

Completion date

2027-11-01

Last updated

2026-04-07

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-ATN1-001

Personalized Antisense Oligonucleotide

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

TREATMENT

Masking

NONE

Eligibility

Sex/Gender

MALE

Age

22 Years to No maximum

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 * 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

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

Secondary

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

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Apr 8, 2026