A Prospective Natural History and Outcome Measure Discovery Study of Charcot-Marie-Tooth Disease, Type 4J
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorElpida Therapeutics SPC
About this trial
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.
Eligibility criteria
Qualifiers
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
Disqualifiers
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
Trial design
Treatments tested in this trial
- Not listed
Trial groups
No trial groups listed
Sponsors and collaborators
Source ClinicalTrials.gov