Personalized Antisense Oligonucleotide for A Single Participant With ATN1 Gene Mutation

NCT ID: NCT07084311

Last Updated: 2025-07-24

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Clinical Phase: PHASE1/PHASE2
• Total Enrollment: 1 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2024-10-24
• Study Completion Date: 2026-11-30

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

Conditions

Dentatorubral-Pallidoluysian Atrophy

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

Open Label

Group Type: EXPERIMENTAL

nL-ATN1-002

Intervention Type: DRUG

Personalized antisense oligonucleotide

Interventions

nL-ATN1-002

Personalized antisense oligonucleotide

Intervention Type: DRUG

Eligibility Criteria

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.

• Minimum Eligible Age: 29 Years
• Maximum Eligible Age: 29 Years
• Eligible Sex: FEMALE
• Accepts Healthy Volunteers: No

Sponsors

Hawaii Pacific Neuroscience

UNKNOWN

Sponsor Role: collaborator

n-Lorem Foundation

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Hawaii Pacific Neuroscience

Honolulu, Hawaii, United States

Countries

United States

Other Identifiers

Pro00081366

Identifier Type: -

Identifier Source: org_study_id