A Prospective Natural History and Outcome Measure Discovery Study of Charcot-Marie-Tooth Disease, Type 4J

Launched by ELPIDA THERAPEUTICS SPC · Nov 23, 2023

Keywords

ClinConnect Summary

This clinical trial is studying Charcot-Marie-Tooth Disease, Type 4J (CMT4J), a genetic condition that affects the nerves and can lead to muscle weakness and problems with movement. The researchers aim to learn more about how this disease progresses over time and to identify ways to measure its impact on patients. The study will involve 20 participants of any age who have been confirmed to have CMT4J through specific genetic testing.

To participate, individuals must have a genetic diagnosis of CMT4J and be willing to follow the study's procedures, which include annual visits over two years. This means participants will meet with the study team every year for check-ups and evaluations. Both patients and their caregivers will need to give consent for participation, and the study is currently recruiting new volunteers. It's important for potential participants to know that certain other health conditions or treatments may prevent them from joining this study.

Gender

ALL

Eligibility criteria

• 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 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
• • 4. Informed assent of patients younger than 18 years at Screening who are able to provide assent
• • 5. Able and willing to comply with the study protocol, including travel to Study Center, procedures, measurements and visits
• Exclusion Criteria:
• • 1. Any known genetic abnormality, including chromosomal aberrations that confound the clinical phenotype
• • 2. Current participation in an interventional or therapeutic study
• • 3. Receiving an investigational drug within 90 days of the Baseline Visit
• • 4. Prior or current treatment with gene or stem cell therapy
• • 5. Any other diseases which may significantly interfere with the assessment of CMT4J
• • 6. 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