Natural History Study for Charcot Marie Tooth Disease

Sponsor

Hereditary Neuropathy Foundation (Other)

Overall Status

Recruiting

CT.gov ID

NCT05902351

Collaborator

(none)

10,000

Enrollment

Location

194

Anticipated Duration (Months)

51.6

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Charcot-Marie-Tooth Disease, Type IA Charcot-Marie-Tooth Disease Type 2A Charcot-Marie-Tooth Disease Type 2 Charcot-Marie-Tooth Disease, Type 2C Charcot-Marie-Tooth Disease Type 2A2B Charcot-Marie-Tooth Disease Type 2B2 Charcot-Marie-Tooth Disease Type 2A1 Charcot-Marie-Tooth Disease Type 4B1 Charcot-Marie-Tooth Disease, Type IB Charcot-Marie-Tooth Disease Type 2B1 Charcot-Marie-Tooth Disease Type 2U (Diagnosis) Charcot-Marie-Tooth Disease Type 4A Charcot-Marie-Tooth Disease, Type 4A, Axonal Form Charcot-Marie-Tooth Disease Type 2A2A Charcot-Marie-Tooth Disease Type 2S (Disorder) Charcot-Marie-Tooth Disease and Deafness Charcot-Marie-Tooth Disease Type 4B2 Charcot-Marie-Tooth Disease Type 4H Charcot-Marie-Tooth Disease Type 1F Charcot-Marie-Tooth Disease Type 4C Charcot-Marie-Tooth Disease Type 4E Charcot-Marie-Tooth Disease Type 1D Charcot-Marie-Tooth Disease Type 2Q (Diagnosis) Charcot-Marie-Tooth Disease Type 2A2 Charcot-Marie-Tooth Disease Type 2N (Diagnosis) Charcot-Marie-Tooth Disease Type 2B5 Charcot-Marie-Tooth Disease Type 2D Charcot-Marie-Tooth Disease Type 4D Charcot-Marie-Tooth Disease Type 2K Charcot-Marie-Tooth Disease Type 2L (Diagnosis) Charcot-Marie-Tooth Disease Type 2T Charcot-Marie-Tooth Disease Type 2I Charcot-Marie-Tooth Disease Type 2J Charcot-Marie-Tooth Disease Type 2E Charcot-Marie-Tooth Disease Type 2G Charcot-Marie-Tooth Disease Type 1C Charcot-Marie-Tooth Disease Type 2R Charcot-Marie-Tooth Disease Type 2O (Diagnosis) Charcot-Marie-Tooth Disease Type 2M Charcot-Marie-Tooth Disease Type 2P Charcot-Marie-Tooth Disease Type 2Y Charcot-Marie-Tooth Disease Type 4F (Diagnosis) Charcot-Marie-Tooth Disease Type 4B3 Charcot-Marie-Tooth Disease Type 2H HNPP X-Linked Charcot-Marie-Tooth Disease

Study Design

Study Type:

Observational

Anticipated Enrollment :

10000 participants

Observational Model:

Cohort

Time Perspective:

Cross-Sectional

Official Title:

Global Registry for Inherited Neuropathies Natural History Study for Charcot Marie Tooth Disease

Actual Study Start Date :

Nov 1, 2013

Anticipated Primary Completion Date :

Dec 31, 2029

Anticipated Study Completion Date :

Dec 31, 2029

Outcome Measures

Primary Outcome Measures

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

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.