Natural History Study for Charcot Marie Tooth Disease

Recruiting

• Conditions: Charcot-Marie-Tooth Disease Type 2A2A; Charcot-Marie-Tooth Disease and Deafness; Charcot-Marie-Tooth Disease Type 4H; Charcot-Marie-Tooth Disease Type 2B5; Charcot-Marie-Tooth Disease Type 2L (Diagnosis); Charcot-Marie-Tooth Disease Type 2T; Charcot-Marie-Tooth Disease Type 2R; Charcot-Marie-Tooth Disease Type 2Y; X-Linked Charcot-Marie-Tooth Disease; Charcot-Marie-Tooth Disease Type 2S (Disorder)

• Registration Number: NCT05902351
• Lead Sponsor: Hereditary Neuropathy Foundation

Brief Summary

The goal of this Natural History Study for Charcot-Marie-Tooth is to acquire, record, and analyze patient-reported data and associated genetic reports, Electronic Health Records (EHRs) and clinical notes to identify the burden, diagnostic journey, and prevalence of disease that will aid scientists in their work toward finding a cure.

Participants will be asked to complete a Natural History Survey.

Detailed Description

Not available

Study Timeline

• Study Start: 2013-11-01
• Study First Submitted: 2023-05-02
• Study First Submitted QC: 2023-06-12
• Study First Posted: 2023-06-15
• Status Verified: 2024-09
• Last Update Submitted: 2024-09-30
• Last Update Posted: 2024-10-01
• Primary Completion: 2029-12-31
• Study Completion: 2029-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 10000

Inclusion Criteria

Patients will be made aware of the study by HNF and others (referenced above) and invited to participate. Once patients have reviewed and signed electronically the informed consent document, it is attached to their file.

All affected individuals with CMT/IN are eligible to participate in GRIN with proper informed consent.

Children, adolescents and adults with either a confirmed diagnosis or suspected to have CMT/IN are eligible with parent and/or guardian consent.

Individuals that have been clinically diagnosed through family history and/or standard clinical testing (e.g. neuro exam, EMG, NCS) and/or genetically tested or suspected to have CMT/IN (note: many mutations have not been identified yet) are eligible.

Exclusion Criteria

People that do not have Charcot-Marie-Tooth or other Inherited Neuropathies

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Identify the type of CMT	156 weeks	Patient-Reported Outcomes depending on individual experience I.e. Genetic testing, clinical observation, EMG, family history.
Impact of symptoms on Activities of Daily Living	156 weeks	Patient-Reported Observations
Disease Symptoms	156 weeks	Patient-Reported Observations
Associated Comorbidities	156 weeks	Patient-Reported Observations

Trial Locations

Locations (1)

Hereditary Neuropathy Foundation; 🇺🇸 New York, New York, United States