Personalized Antisense Oligonucleotide Therapy for a Single Participant with ATN1 Gene Mutation

n-Lorem Foundation

Status and phase: Active, not recruiting; Phase 2; Phase 1

Conditions: Dentatorubral-Pallidoluysian Atrophy

Treatments: Drug: nL-ATN1-002

Study type: Interventional

Funder types: Other

Identifiers

NCT06706388

AAAV0657

Details and patient eligibility

About

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

Full 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

Enrollment: 1 patient

Sex: Male

Ages: 17 to 17 years old

Volunteers: No 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.

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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1 participants in 1 patient group

Open Label

Experimental group

Treatment:

Drug: nL-ATN1-002