A Prospective Natural History and Outcome Measure Discovery Study of Charcot-Marie-Tooth Disease, Type 4J
Elpida Therapeutics SPC
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.
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. The study will obtain demographic and medical history information. Natural history data will be collected prospectively on an annual basis and may include physical/neurological exams, standard laboratory tests, CMT outcome and disability measures, neuropsychological tests, nerve conduction studies (NCS), and imaging studies (muscle MRI). Pulmonary func…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
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 con…
Locations (3)
- Stanford UniversitySan Francisco, California
- University of IowaIowa City, Iowa
- University of Texas SouthwesternDallas, Texas