Observational study of Charcot-Marie-Tooth Disease, Type 4J

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

This study is tracking 20 people with Charcot-Marie-Tooth Disease Type 4J over two years to see how the condition progresses through regular check-ups and tests.

Quick facts

• Study type: Observational
• Enrollment: 20 (estimated)
• Sex: All
• Sponsor: Elpida Therapeutics SPC (Industry-sponsored)
• Locations: 3 sites (San Francisco, California and 2 other locations)
• Trial ID: NCT06151600 on ClinicalTrials.gov

What this trial studies

This multicenter, longitudinal observational study focuses on individuals with a confirmed diagnosis of Charcot-Marie-Tooth Disease Type 4J (CMT4J). It aims to enroll 20 subjects of any age to follow a uniform protocol for evaluations and follow-ups over a period of up to 2 years. Participants will undergo annual assessments that include physical exams, laboratory tests, neuropsychological evaluations, nerve conduction studies, and imaging studies. The study seeks to gather comprehensive natural history data to better understand the progression of CMT4J.

Who should consider this trial

Good fit: Ideal candidates are individuals of any age with a molecularly confirmed diagnosis of CMT4J.

Not a fit: Patients without a confirmed diagnosis of CMT4J or those unable to comply with the study protocol may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could enhance understanding of CMT4J, potentially leading to improved management and treatment strategies for patients.

How similar studies have performed: While this study is focused on a specific subtype of Charcot-Marie-Tooth Disease, similar observational studies have successfully contributed to understanding other neuromuscular diseases.

Eligibility criteria

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

Where this trial is running

San Francisco, California and 2 other locations

• Stanford University — San Francisco, California, United States (Recruiting)
• University of Iowa — Iowa City, Iowa, United States (Recruiting)
• University of Texas Southwestern — Dallas, Texas, United States (Recruiting)

Study contacts

• Study coordinator: Rachel Thomas, RN

Conditions Peripheral Neuropathy; Neuro-Degenerative Disease; Neuromuscular Diseases