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Enrolling by invitation NCT07226297

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

Phase I / Phase II Interventional Charcot-Marie-Tooth Disease Type 2D

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: nL-GARS1-001.
Who it may be relevant to
Registry conditions: Charcot-Marie-Tooth Disease Type 2D. Basic parameters: from 13 years · Female.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

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

Overview

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

Interventions

  • Drug nL-GARS1-001
    Personalized antisense oligonucleotide

Primary outcome measures

  • Motor Skills [Time frame: Baseline to 24 months]
  • Motor Skills [Time frame: Baseline to 24 months]
  • Motor Skills [Time frame: Baseline to 24 months]
  • Motor Skills [Time frame: Baseline to 24 months]
  • Motor Skills [Time frame: Baseline to 24 months]
Secondary outcome measures (6)
  • Quality of Life [Time frame: Baseline to 24 months]
  • Functional Skills [Time frame: Baseline to 24 months]
  • Safety and Tolerability [Time frame: Baseline to 24 months]
  • Incidence of Treatment-Emergent Abnormalities in Physical Exam [Safety and Tolerability] [Time frame: Baseline to 24 months]
  • Incidence of Treatment-Emergent Abnormalities in Neurological Exam [Safety and Tolerability] [Time frame: Baseline to 24 months]
  • Incidence of Treatment-Emergent Abnormalities in Safety Labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and Tolerability] [Time frame: Baseline to 24 months]

Eligibility 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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation
N/A
Model
Single group
Masking
Open label
Primary purpose
Treatment

Study locations

United States · 1 center
  • UTHealth Houston — Houston

Identifiers

NCT: NCT07226297 · HSC-MS-25-0625

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗