Natural History Study for Charcot Marie Tooth Disease

Hereditary Neuropathy Foundation

Status: Enrolling

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

Study type: Observational

Funder types: Other

Identifiers

NCT05902351

GRIN1001

Details and patient eligibility

About

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.

Enrollment: 10,000 estimated patients

Sex: All

Volunteers: No 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.

Exclusion criteria

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