A Prospective Natural History and Outcome Measure Discovery Study of Charcot-Marie-Tooth Disease, Type 4J (CMT4J)

January 20, 2026 updated by: Elpida Therapeutics SPC
This is a multicenter, longitudinal, prospective observational natural history study of subjects with a molecularly confirmed diagnosis of CMT4J. The study will enroll 20 subjects of any age into a uniform protocol for follow-up and evaluations. Subject visits will occur every 12 months + 4 weeks for up to 2 years.

Study Overview

Status

Recruiting

Conditions

Detailed Description

This is a multicenter, longitudinal, prospective observational natural history study of subjects with a molecularly confirmed diagnosis of CMT4J. The study will enroll 20 subjects of any age into a uniform protocol for follow-up and evaluations. The study will obtain demographic and medical history information. Natural history data will be collected prospectively on an annual basis and may include physical/neurological exams, standard laboratory tests, CMT outcome and disability measures, neuropsychological tests, nerve conduction studies (NCS), and imaging studies (muscle MRI). Pulmonary function test (PFT) and scoliosis series x-ray Subject visits will occur every 12 months + 4 weeks for up to 2 years. Subjects who terminate from the study prior to Visit 3 will undergo an early termination/end of study visit (EOS) if possible. The early termination/end of study visit is comprised of the Visit 3 assessments. If needed, the Investigator may conduct unscheduled visits with Sponsor's approval. No investigational product will be used during the study.

Study Type

Observational

Enrollment (Estimated)

20

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • California
      • San Francisco, California, United States, 94305
    • Iowa
      • Iowa City, Iowa, United States, 52242
    • Texas
      • Dallas, Texas, United States, 75390
        • Recruiting
        • University of Texas Southwestern
        • Principal Investigator:
          • Susan Iannaccone, MD
        • Contact:
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Subjects with a genetically confirmed diagnosis of CMT4J will be included.

Description

Inclusion Criteria:

  1. Male or female, all ages
  2. A molecularly-confirmed diagnosis of CMT4J (confirmed by a CLIA certified, CE-marked, or equivalent lab): Genomic DNA mutation analysis demonstrating 1) bi-allelic pathogenic and/or likely pathogenic variants (by ACMG criteria) in the FIG4 gene, or 2) bi-allelic variants with one pathogenic and/or likely pathogenic variant in trans with a variant of uncertain significance if laboratory evidence and expert consensus exits in support of loss of FIG4 function exists.
  3. Informed consent from patients 18 years or older who are able to provide consent and from caregivers; parent(s)/guardian(s) providing consent for subjects younger than 18 years at Screening and patients older than 18 years unable to provide informed consent
  4. Informed assent of patients younger than 18 years at Screening who are able to provide assent
  5. Able and willing to comply with the study protocol, including travel to Study Center, procedures, measurements and visits

Exclusion Criteria:

  1. Any known genetic abnormality, including chromosomal aberrations that confound the clinical phenotype
  2. Current participation in an interventional or therapeutic study
  3. Receiving an investigational drug within 90 days of the Baseline Visit
  4. Prior or current treatment with gene or stem cell therapy
  5. Any other diseases which may significantly interfere with the assessment of CMT4J
  6. Have any other conditions, which, in the opinion of the Investigator or Sponsor would make the subject unsuitable for inclusion or could interfere with the subject participating in or completing the study

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Study objective
Time Frame: 2 years
This study is designed to investigate the clinical characteristics and natural history of CMT4J.
2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Elpida Therapeutics SPC

Investigators

  • Study Director: Souad Messahel, Ph.D, Elpida Therapeutics SPC

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 29, 2024

Primary Completion (Estimated)

March 1, 2031

Study Completion (Estimated)

March 1, 2032

Study Registration Dates

First Submitted

October 23, 2023

First Submitted That Met QC Criteria

November 23, 2023

First Posted (Actual)

November 30, 2023

Study Record Updates

Last Update Posted (Actual)

January 22, 2026

Last Update Submitted That Met QC Criteria

January 20, 2026

Last Verified

January 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • ELPIDA THERAPEUTICS CMT4J NHS

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

De-identified data for publication.

IPD Sharing Time Frame

Starting in January 2025

IPD Sharing Access Criteria

All Investigators leading the trial.

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL
  • ICF
  • CSR

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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