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

Led by Elpida Therapeutics SPC · Updated on 2026-07-08

Participants Needed

Research Sites

52 weeks

Total Duration

AI-Summary

What this Trial Is About

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

Brief Title

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

Who Can Participate

All Genders

Eligibility Criteria

Inclusion Criteria:

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

Exclusion Criteria:

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
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

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

On this page

AI-Summary

What this Trial Is About

Brief Title

Who Can Participate

Eligibility Criteria

Not the Right Trial for You?

On this page

Who Can Participate

Eligibility Criteria