RECRUITING

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

Conditions

Peripheral Neuropathy Neuro-Degenerative Disease Neuromuscular Diseases

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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.

Official Title

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

Quick Facts

Study Start:2024-07-29

Study Completion:2028-03-01

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT06151600

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion 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	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

Inclusion Criteria

Exclusion 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

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

Contacts and Locations

Study Contact

Rachel Thomas, RN

CONTACT

4157255245

rachel@elpidatx.com

Keith Gottlieb, Ph.D

CONTACT

4157255245

keith@elpidatx.com

Principal Investigator

Souad Messahel, Ph.D

STUDY_DIRECTOR

Elpida Therapeutics SPC

Study Locations (Sites)

University of Iowa

Iowa City, Iowa, 52242

United States

Collaborators and Investigators

Sponsor: Elpida Therapeutics SPC

Souad Messahel, Ph.D, STUDY_DIRECTOR, Elpida Therapeutics SPC

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2024-07-29

Study Completion Date2028-03-01

Study Record Updates

Study Start Date2024-07-29

Study Completion Date2028-03-01

Terms related to this study

Additional Relevant MeSH Terms

Peripheral Neuropathy
Neuro-Degenerative Disease
Neuromuscular Diseases