Status:
RECRUITING
A Prospective Natural History and Outcome Measure Discovery Study of Charcot-Marie-Tooth Disease, Type 4J
Lead Sponsor:
Elpida Therapeutics SPC
Conditions:
Peripheral Neuropathy
Neuro-Degenerative Disease
Eligibility:
All Genders
Brief 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 un...
Detailed 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 un...
Eligibility Criteria
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
- 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
Key Trial Info
Start Date :
July 29 2024
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
March 1 2028
Estimated Enrollment :
20 Patients enrolled
Trial Details
Trial ID
NCT06151600
Start Date
July 29 2024
End Date
March 1 2028
Last Update
June 3 2025
Active Locations (3)
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1
Stanford University
San Francisco, California, United States, 94305
2
University of Iowa
Iowa City, Iowa, United States, 52242
3
University of Texas Southwestern
Dallas, Texas, United States, 75390