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

NCT07221760 | Not Yet Recruiting Phase 1 DMC FDA Drug

• 1 other identifier: STUDY00007386
• 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 (3)

• Seizures

  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)

  Baseline to 24 months

• Seizures

  Change in seizure length from baseline to every 3 months post nL-ATN1-002 administration as measured by seizure tracking (changes in number and length of seizures)

  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 (8)

• Quality of Life and Caregiver Burden

  Baseline to 24 months

• Quality of Life and Caregiver Burden

  Baseline to 24 months

• Health Status

  Baseline to 24 months

• Dysphagia

  Baseline to 24 months

• Dysphagia

  Baseline to 24 months

Other Outcomes (5)

• Developmental Skills

  Baseline to 24 months

• Developmental Skills

  Baseline to 24 months

• Developmental Skills

  Baseline to 24 months

Study Arms (1)

Open Label

EXPERIMENTAL

Drug: nL-ATN1-001

Interventions

nL-ATN1-001 DRUG

Personalized Antisense Oligonucleotide

Open Label

Eligibility Criteria

• Age: 22 Years+
• Sex: male
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

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
• Genetically confirmed Dentatorubral-pallidoluysian atrophy (DRPLA) due to ATN1 mutation

You may not qualify if:

• 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

Sponsors & Collaborators

• n-Lorem Foundation: lead
• Dell Children's Medical Center of Central Texas: collaborator

Study Sites (1)

Dell Children's

Austin, Texas, 78723, 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: October 24, 2025
• First Posted: October 28, 2025
• Study Start: November 1, 2025
• Primary Completion (Estimated): November 1, 2027
• Study Completion (Estimated): November 1, 2027
• Last Updated: October 28, 2025

Record last verified: 2025-10

Locations

US (1)