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NCT Number: NCT05902351

Natural History Study for Charcot Marie Tooth Disease

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.

Recruiting

Interested in participating?

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Key information

Conditions

Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Charcot-Marie-Tooth Disease Type 1C Charcot-Marie-Tooth Disease Type 1D Charcot-Marie-Tooth Disease Type 1F Charcot-Marie-Tooth Disease Type 2 Charcot-Marie-Tooth Disease Type 2A Charcot-Marie-Tooth Disease Type 2A1 Charcot-Marie-Tooth Disease Type 2A2 Charcot-Marie-Tooth Disease Type 2A2A Charcot-Marie-Tooth Disease Type 2A2B Charcot-Marie-Tooth Disease Type 2B1 Charcot-Marie-Tooth Disease Type 2B2 Charcot-Marie-Tooth Disease Type 2B5 Charcot-Marie-Tooth Disease Type 2D Charcot-Marie-Tooth Disease Type 2E Charcot-Marie-Tooth Disease Type 2G Charcot-Marie-Tooth Disease Type 2H Charcot-Marie-Tooth Disease Type 2I Charcot-Marie-Tooth Disease Type 2J Charcot-Marie-Tooth Disease Type 2K Charcot-Marie-Tooth Disease Type 2L (Diagnosis) Charcot-Marie-Tooth Disease Type 2M Charcot-Marie-Tooth Disease Type 2N (Diagnosis) Charcot-Marie-Tooth Disease Type 2O (Diagnosis) Charcot-Marie-Tooth Disease Type 2P Charcot-Marie-Tooth Disease Type 2Q (Diagnosis) Charcot-Marie-Tooth Disease Type 2R Charcot-Marie-Tooth Disease Type 2S (Disorder) Charcot-Marie-Tooth Disease Type 2T Charcot-Marie-Tooth Disease Type 2U (Diagnosis) Charcot-Marie-Tooth Disease Type 2Y Charcot-Marie-Tooth Disease Type 4A Charcot-Marie-Tooth Disease Type 4B1 Charcot-Marie-Tooth Disease Type 4B2 Charcot-Marie-Tooth Disease Type 4B3 Charcot-Marie-Tooth Disease Type 4C Charcot-Marie-Tooth Disease Type 4D Charcot-Marie-Tooth Disease Type 4E Charcot-Marie-Tooth Disease Type 4F (Diagnosis) Charcot-Marie-Tooth Disease Type 4H Charcot-Marie-Tooth Disease and Deafness Charcot-Marie-Tooth Disease, Axonal, Type 2A2 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Type 2C Charcot-Marie-Tooth Disease, Type 4A, Axonal Form Charcot-Marie-Tooth Disease, Type 4H Charcot-Marie-Tooth Disease, Type IA Charcot-Marie-Tooth Disease, Type IB Charcot-Marie-Tooth disease, Type 1C Charcot-Marie-Tooth disease, Type 1D Charcot-Marie-Tooth disease, Type 1F Charcot-Marie-Tooth disease, Type 2A Charcot-Marie-Tooth disease, Type 2B2 Charcot-Marie-Tooth disease, Type 2D Charcot-Marie-Tooth disease, Type 2E Charcot-Marie-Tooth disease, Type 2H Charcot-Marie-Tooth disease, Type 2I Charcot-Marie-Tooth disease, Type 2J Charcot-Marie-Tooth disease, Type 2K Charcot-Marie-Tooth disease, Type 4A Charcot-Marie-Tooth disease, Type 4B1 Charcot-Marie-Tooth disease, Type 4B2 Charcot-Marie-Tooth disease, Type 4C Charcot-Marie-Tooth disease, Type 4E Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Genetic Diseases, Inborn HNPP Hereditary Sensory and Motor Neuropathy Heredodegenerative Disorders, Nervous System Limb-girdle muscular dystrophy, type 1B Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neuromuscular Diseases Neuropathy, hereditary motor and sensory, LOM type Pathologic Processes Pathological Conditions, Signs and Symptoms Peripheral Nervous System Diseases Polyneuropathies X-Linked Charcot-Marie-Tooth Disease

Sex eligibility

All sexes

Study type

Observational

Primary location

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Identify the type of CMT

    Time frame: 156 weeks

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

  2. Disease Symptoms

    Time frame: 156 weeks

    Patient-Reported Observations

  3. Impact of symptoms on Activities of Daily Living

    Time frame: 156 weeks

    Patient-Reported Observations

  4. Associated Comorbidities

    Time frame: 156 weeks

    Patient-Reported Observations

Study contacts

Contact information is provided by the study sponsor or research team.

Allison Moore

CONTACT

[email protected]

212-722-8396

Joy Aldrich

CONTACT

[email protected]

212-722-8396

Sponsors and collaborators

Lead sponsor

Hereditary Neuropathy Foundation

Other Gov

Registry information

Official study title

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

Important dates

Study start
2013
Primary completion
2029
Study completion
2029
First posted
Jun 15, 2023
Registry last updated
Oct 1, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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