A Prospective Natural History and Outcome Measure Discovery Study of Charcot-Marie-Tooth Disease, Type 4J
Key facts
- Where
- Dallas, Iowa City, and San Francisco, United StatesSee the 3 sites
Where in United States
- University of Texas, SouthwesternDallas, United StatesNo longer taking part
- University of IowaIowa City, United StatesNo longer taking part
- Stanford UniversitySan Francisco, United StatesNo longer taking part
Trial details
- Who runs it
- Elpida Therapeutics SPC
- Trial code
- NCT06151600
- Record updated
- 8 July 2026
- Original 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. Subject visits will occur every 12 months + 4 weeks for up to 2 years.Read full original descriptionShow less
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.
Inclusion: 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: 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; Any known genetic abnormality, including chromosomal aberrations that confound the clinical phenotype; Current participation in an interventional or therapeutic study.