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

n-Lorem Foundation

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

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

Eligibility

Age range: 13+ years
Sex: Female
Healthy volunteers: No

Detailed criteria

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.

Interventions

Drug
nL-GARS1-001
Personalized antisense oligonucleotide

Location

UTHealth Houston
Houston, Texas