NCT07226297

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

An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for Charcot-Marie-Tooth Type 2D Due to GARS1 Genetic Mutation

• Status: Enrolling By Invitation
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 1 (estimated)
• Sponsor: n-Lorem Foundation · Academic / Other
• Sex: Female
• Age: 13 Years
• Healthy volunteers: Not accepted

Summary

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

Detailed 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

Conditions

• Charcot-Marie-Tooth Disease Type 2D

Interventions

Type	Name	Description
DRUG	nL-GARS1-001	Personalized antisense oligonucleotide

Timeline

• Start date: 2025-10-27
• Primary completion: 2027-10-01
• Completion: 2027-10-01
• First posted: 2025-11-10
• Last updated: 2025-11-10

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study