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

NCT06151600 | Recruiting

• 1 other identifier: ELPIDA THERAPEUTICS CMT4J NHS
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 3

Brief Summary

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.

Conditions

Peripheral Neuropathy; Neuro-Degenerative Disease; Neuromuscular Diseases

Outcome Measures

Primary Outcomes (1)

• Study objective

  This study is designed to investigate the clinical characteristics and natural history of CMT4J.

  2 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• Male or female, all ages
• 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.
• 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
• Informed assent of patients younger than 18 years at Screening who are able to provide assent
• Able and willing to comply with the study protocol, including travel to Study Center, procedures, measurements and visits

You may not qualify if:

• Any known genetic abnormality, including chromosomal aberrations that confound the clinical phenotype
• Current participation in an interventional or therapeutic study
• Receiving an investigational drug within 90 days of the Baseline Visit
• Prior or current treatment with gene or stem cell therapy
• Any other diseases which may significantly interfere with the assessment of CMT4J

Sponsors & Collaborators

• Elpida Therapeutics SPC: lead

Study Sites (3)

Stanford University

San Francisco, California, 94305, United States

RECRUITING

University of Iowa

Iowa City, Iowa, 52242, United States

RECRUITING

University of Texas Southwestern

Dallas, Texas, 75390, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples and skin biopsies

MeSH Terms

Conditions

Peripheral Nervous System Diseases; Neuromuscular Diseases

Condition Hierarchy (Ancestors)

Nervous System Diseases

Study Officials

• Souad Messahel, Ph.D

  Elpida Therapeutics SPC

  STUDY DIRECTOR

Central Study Contacts

Rachel Thomas, RN

CONTACT

4157255245; rachel@elpidatx.com

Keith Gottlieb, Ph.D

CONTACT

4157255245; keith@elpidatx.com

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 23, 2023
• First Posted: November 30, 2023
• Study Start: July 29, 2024
• Primary Completion (Estimated): March 1, 2031
• Study Completion (Estimated): March 1, 2032
• Last Updated: January 22, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ICF, CSR
• Time Frame: Starting in January 2025
• Access Criteria: All Investigators leading the trial.

Locations

US (3)