Actively Recruiting
A Prospective Natural History and Outcome Measure Discovery Study of Charcot-Marie-Tooth Disease, Type 4J
Led by Elpida Therapeutics SPC · Updated on 2026-01-22
20
Participants Needed
3
Research Sites
396 weeks
Total Duration
On this page
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
Official Title
A Prospective Natural History and Outcome Measure Discovery Study of Charcot-Marie-Tooth Disease, Type 4J
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Male or female, all ages
- Molecularly confirmed diagnosis of CMT4J by a certified or equivalent lab
- Genomic DNA mutation showing bi-allelic pathogenic or likely pathogenic variants in the FIG4 gene
- Consent provided by patients 18 or older or by caregivers/guardians for younger or unable patients
- Assent provided by patients younger than 18 who can give assent
- Able and willing to comply with study protocol including travel and visits
You will not qualify if you...
- Known genetic abnormalities that confound the clinical phenotype
- Current participation in an interventional or therapeutic study
- Receipt of investigational drugs within 90 days before baseline
- Prior or current gene or stem cell therapy treatment
- Any diseases that interfere significantly with CMT4J assessment
- Any other conditions judged by Investigator or Sponsor to make participation unsuitable or interfere with study completion
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 3 locations
1
Stanford University
San Francisco, California, United States, 94305
Actively Recruiting
2
University of Iowa
Iowa City, Iowa, United States, 52242
Actively Recruiting
3
University of Texas Southwestern
Dallas, Texas, United States, 75390
Actively Recruiting
Research Team
R
Rachel Thomas, RN
CONTACT
K
Keith Gottlieb, Ph.D
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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