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

NCT ID: NCT07226297

Last Updated: 2025-11-10

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Clinical Phase

PHASE1/PHASE2

Total Enrollment

1 participants

Study Classification

INTERVENTIONAL

Study Start Date

2025-10-27

Study Completion Date

2027-10-31

Brief Summary

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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

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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

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Charcot-Marie-Tooth Disease Type 2D

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Open Label

Group Type EXPERIMENTAL

nL-GARS1-001

Intervention Type DRUG

Personalized antisense oligonucleotide

Interventions

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nL-GARS1-001

Personalized antisense oligonucleotide

Intervention Type DRUG

Eligibility Criteria

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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.
Minimum Eligible Age

13 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

No

Sponsors

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The University of Texas Health Science Center, Houston

OTHER

Sponsor Role collaborator

n-Lorem Foundation

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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UTHealth Houston

Houston, Texas, United States

Site Status

Countries

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United States

Other Identifiers

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HSC-MS-25-0625

Identifier Type: -

Identifier Source: org_study_id