NCT05902351

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
10,000

participants targeted

Target at P75+ for all trials

Timeline
45mo left

Started Nov 2013

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress77%
Nov 2013Dec 2029

Study Start

First participant enrolled

November 1, 2013

Completed
9.5 years until next milestone

First Submitted

Initial submission to the registry

May 2, 2023

Completed
1 month until next milestone

First Posted

Study publicly available on registry

June 15, 2023

Completed
6.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 31, 2029

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 31, 2029

Last Updated

October 1, 2024

Status Verified

September 1, 2024

Enrollment Period

16.2 years

First QC Date

May 2, 2023

Last Update Submit

September 30, 2024

Conditions

Charcot-Marie-Tooth DiseaseCharcot-Marie-ToothCharcot-Marie-Tooth Disease, Type IACharcot-Marie-Tooth Disease Type 2ACharcot-Marie-Tooth Disease Type 2Charcot-Marie-Tooth Disease, Type 2CCharcot-Marie-Tooth Disease Type 2A2BCharcot-Marie-Tooth Disease Type 2B2Charcot-Marie-Tooth Disease Type 2A1Charcot-Marie-Tooth Disease Type 4B1Charcot-Marie-Tooth Disease, Type IBCharcot-Marie-Tooth Disease Type 2B1Charcot-Marie-Tooth Disease Type 2U (Diagnosis)Charcot-Marie-Tooth Disease Type 4ACharcot-Marie-Tooth Disease, Type 4A, Axonal FormCharcot-Marie-Tooth Disease Type 2A2ACharcot-Marie-Tooth Disease Type 2S (Disorder)Charcot-Marie-Tooth Disease and DeafnessCharcot-Marie-Tooth Disease Type 4B2Charcot-Marie-Tooth Disease Type 4HCharcot-Marie-Tooth Disease Type 1FCharcot-Marie-Tooth Disease Type 4CCharcot-Marie-Tooth Disease Type 4ECharcot-Marie-Tooth Disease Type 1DCharcot-Marie-Tooth Disease Type 2Q (Diagnosis)Charcot-Marie-Tooth Disease Type 2A2Charcot-Marie-Tooth Disease Type 2N (Diagnosis)Charcot-Marie-Tooth Disease Type 2B5Charcot-Marie-Tooth Disease Type 2DCharcot-Marie-Tooth Disease Type 4DCharcot-Marie-Tooth Disease Type 2KCharcot-Marie-Tooth Disease Type 2L (Diagnosis)Charcot-Marie-Tooth Disease Type 2TCharcot-Marie-Tooth Disease Type 2ICharcot-Marie-Tooth Disease Type 2JCharcot-Marie-Tooth Disease Type 2ECharcot-Marie-Tooth Disease Type 2GCharcot-Marie-Tooth Disease Type 1CCharcot-Marie-Tooth Disease Type 2RCharcot-Marie-Tooth Disease Type 2O (Diagnosis)Charcot-Marie-Tooth Disease Type 2MCharcot-Marie-Tooth Disease Type 2PCharcot-Marie-Tooth Disease Type 2YCharcot-Marie-Tooth Disease Type 4F (Diagnosis)Charcot-Marie-Tooth Disease Type 4B3Charcot-Marie-Tooth Disease Type 2HHNPPX-Linked Charcot-Marie-Tooth Disease

Keywords

Inherited NeuropathiesPeripheral NeuropathyCharcot-Marie-ToothCharcot-Marie-Tooth DiseaseCMT

Outcome Measures

Primary Outcomes (4)

  • 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

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

  • 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.

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hereditary Neuropathy Foundation

New York, New York, 10128, United States

RECRUITING

Related Links

MeSH Terms

Conditions

Charcot-Marie-Tooth DiseaseCharcot-Marie-Tooth disease, Type 2ACharcot-Marie-Tooth disease, Type 2CCharcot-Marie-Tooth disease, Type 2B2Charcot-Marie-Tooth Disease, Axonal, Type 2a1Charcot-Marie-Tooth disease, Type 4B1Limb-girdle muscular dystrophy, type 1BDiseaseCharcot-Marie-Tooth disease, Type 4ACharcot-Marie-Tooth disease, Type 4A, axonal formCharcot-Marie-Tooth Disease, Axonal, Type 2A2Charcot-Marie-Tooth disease and deafnessCharcot-Marie-Tooth disease, Type 4B2Charcot-Marie-Tooth Disease, Type 4HCharcot-Marie-Tooth disease, Type 1FCharcot-Marie-Tooth disease, Type 4CCharcot-Marie-Tooth disease, Type 4ECharcot-Marie-Tooth disease, Type 1DCharcot-Marie-Tooth Disease, Axonal, Type 2nCharcot-Marie-Tooth disease, Type 2DNeuropathy, hereditary motor and sensory, LOM typeCharcot-Marie-Tooth disease, Type 2KCharcot-Marie-Tooth disease, Type 2ICharcot-Marie-Tooth disease, Type 2JCharcot-Marie-Tooth disease, Type 2ECharcot-Marie-Tooth disease, Type 2HCharcot-Marie-Tooth disease, Type 1CPeripheral Nervous System Diseases

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor NeuropathyNervous System MalformationsNervous System DiseasesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesPolyneuropathiesNeuromuscular DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, InbornPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • Allison Moore

    Hereditary Neuropathy Foundation

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Allison Moore

CONTACT

212-722-8396allison@hnf-cure.org

Joy Aldrich

CONTACT

212-722-8396JoyAldrich@hnf-cure.org

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER GOV
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 2, 2023

First Posted

June 15, 2023

Study Start

November 1, 2013

Primary Completion (Estimated)

December 31, 2029

Study Completion (Estimated)

December 31, 2029

Last Updated

October 1, 2024

Record last verified: 2024-09

Locations

US(1)