Natural History Study for Charcot Marie Tooth Disease

Hereditary Neuropathy Foundation10,000 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

10,000

Conditions

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

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

Identify the type of CMT

Patient-Reported Outcomes depending on individual experience I.e. Genetic testing, clinical observation, EMG, family history.

Time frame: 156 weeks

Disease Symptoms

Patient-Reported Observations

Time frame: 156 weeks

Impact of symptoms on Activities of Daily Living

Patient-Reported Observations

Time frame: 156 weeks

Associated Comorbidities

Patient-Reported Observations

Time frame: 156 weeks

Data from ClinicalTrials.gov

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Natural History Study for Charcot Marie Tooth Disease

Overview

Conditions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Central Contacts