Personalized Antisense Oligonucleotide for A Single Participant With ATN1 Gene Mutation

NCT07084311 | Active Not Recruiting Phase 1 DMC FDA Drug

• 1 other identifier: Pro00081366
• Study Type: interventional
• Target: 1
• Locations: 1 country
• Sites: 1

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

Conditions

Dentatorubral-Pallidoluysian Atrophy

Outcome Measures

Primary Outcomes (2)

• Seizures

  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

  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 Outcomes (5)

• Quality of Life and Caregiver Burden

  24 months

• Health Status

  24 months

• 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

Study Arms (1)

Open Label

EXPERIMENTAL

Drug: nL-ATN1-002

Interventions

nL-ATN1-002 DRUG

Personalized antisense oligonucleotide

Open Label

Eligibility Criteria

• Age: 29 Years - 29 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• n-Lorem Foundation: lead
• Hawaii Pacific Neuroscience: collaborator

Study Sites (1)

Hawaii Pacific Neuroscience

Honolulu, Hawaii, 96817, United States

Location

MeSH Terms

Conditions

Myoclonic Epilepsies, Progressive

Condition Hierarchy (Ancestors)

Epilepsies, Myoclonic; Epilepsy, Generalized; Epilepsy; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Epileptic Syndromes

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 8, 2025
• First Posted: July 24, 2025
• Study Start: October 24, 2024
• Primary Completion (Estimated): November 1, 2026
• Study Completion (Estimated): November 1, 2026
• Last Updated: July 24, 2025

Record last verified: 2025-05

Locations

US (1)