Personalized Antisense Oligonucleotide for A Single Participant With GARS1 Gene Mutation Associated With Charcot-Marie-Tooth Disease Type 2D (CMT2D)

n-Lorem Foundation

Status and phase: Invitation-only; Phase 2; Phase 1

Conditions: Charcot-Marie-Tooth Disease Type 2D

Treatments: Drug: nL-GARS1-001

Study type: Interventional

Funder types: Other

Identifiers

NCT07226297

HSC-MS-25-0625

Details and patient eligibility

About

This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Charcot-Marie-Tooth disease type 2D (CMT2D) due to a pathogenic, de novo deletion mutation in GARS1

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 CMT2D due to a pathogenic, de novo deletion mutation in GARS1

Enrollment: 1 estimated patient

Sex: Female

Ages: 13+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Informed consent/assent provided by the participant (when appropriate), and/or the 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 GARS1 genetic variant

Exclusion criteria

• 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)

---

1 participants in 1 patient group

Open Label

Experimental group

Treatment:

Drug: nL-GARS1-001