Personalized Antisense Oligonucleotide for A Single Participant With ATN1 Gene Mutation

Phase 2Active Not RecruitingNCT07084311

n-Lorem Foundation1 enrolled

Overview

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

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

Study Type

INTERVENTIONAL

Allocation

Purpose

TREATMENT

Masking

NONE

Enrollment

Conditions

Dentatorubral-Pallidoluysian Atrophy

Interventions

nL-ATN1-002DRUG

Personalized antisense oligonucleotide

Eligibility

Sex: FEMALEMin age: 29 YearsMax age: 29 Years

Medical Language ↔ Plain English

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.

Locations (1)

Hawaii Pacific Neuroscience

Honolulu, Hawaii, United States

Outcomes

Primary Outcomes

Seizures

Change in seizure length from baseline to every 3 months post nL-ATN1-002 administration as measured by routine electroencephalography (EEG)

Time frame: 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).

Time frame: Baseline to 24 months

Secondary Outcomes

Quality of Life and Caregiver Burden

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)

Time frame: 24 months

Health Status

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)

Time frame: 24 months

Incidence and Severity of Treatment Emergent Adverse Events [Safety and Tolerability]

Time frame: 24 months

Incidence of Treatment-Emergent Abnormalities in Physical and Neurological Exams [Safety and Tolerability]

Time frame: 24 months

Incidence of Treatment-Emergent Abnormalities in Safety Labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and Tolerability]

Time frame: 24 months

Data from ClinicalTrials.gov

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