Natural History Study for Charcot Marie Tooth Disease

Global Registry for Inherited Neuropathies 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.

Study Overview

• Status: Recruiting
• Conditions: Charcot-Marie-Tooth Disease; Charcot-Marie-Tooth Disease, Type IA; Charcot-Marie-Tooth Disease Type 2A; Charcot-Marie-Tooth; Charcot-Marie-Tooth Disease, Type IB; 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 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 Type: Observational
• Enrollment (Estimated): 10000

Contacts and Locations

• Study Contact: Name: Allison Moore; Phone Number: 212-722-8396; Email: allison@hnf-cure.org
• Study Contact Backup: Name: Joy Aldrich; Phone Number: 212-722-8396; Email: JoyAldrich@hnf-cure.org

Study Locations

• United States
  • New York
    • New York, New York, United States, 10128
      • Recruiting
      • Hereditary Neuropathy Foundation
      • Contact: Allison Moore; Phone Number: 212-722-8396; Email: allison@hnf-cure.org
      • Contact: Joy Aldrich; Phone Number: 2127228396; Email: joyaldrich@hnf-cure.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

This study is open to anyone that has Charcot-Marie-Tooth Disease or other Inherited Neuropathies.

Description

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 Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Hereditary Neuropathy Foundation
• Investigators: Principal Investigator: Allison Moore, Hereditary Neuropathy Foundation

Publications and helpful links

Helpful Links

• Landing page and entry for patients to participate in the Global Registry for Inherited Neuropathies

Study record dates

Study Major Dates

• Study Start (Actual): November 1, 2013
• Primary Completion (Estimated): December 31, 2029
• Study Completion (Estimated): December 31, 2029

Study Registration Dates

• First Submitted: May 2, 2023
• First Submitted That Met QC Criteria: June 12, 2023
• First Posted (Actual): June 15, 2023

Study Record Updates

• Last Update Posted (Actual): June 15, 2023
• Last Update Submitted That Met QC Criteria: June 12, 2023
• Last Verified: June 1, 2023

More Information

Terms related to this study

• Keywords: Peripheral Neuropathy; CMT; Charcot-Marie-Tooth; Charcot-Marie-Tooth Disease; Inherited Neuropathies
• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Neuromuscular Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Ear Diseases; Metabolism, Inborn Errors; Heredodegenerative Disorders, Nervous System; Sensation Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Nervous System Malformations; Hearing Disorders; Polyneuropathies; Peroxisomal Disorders; Hearing Loss; Disease; Deafness; Tooth Diseases; Nerve Compression Syndromes; Charcot-Marie-Tooth Disease; Hereditary Sensory and Motor Neuropathy; Refsum Disease
• Other Study ID Numbers: GRIN1001

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No