Clinical trial NCT05902351: Natural History Study for Charcot Marie Tooth Disease
Official title: Global Registry for Inherited Neuropathies Natural History Study for Charcot Marie Tooth Disease
Study type: OBSERVATIONAL
Overall status: RECRUITING
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
Charcot-Marie-Tooth Disease Type 2B2
Charcot-Marie-Tooth Disease Type 2A1
Charcot-Marie-Tooth Disease Type 4B1
Charcot-Marie-Tooth Disease, Type IB
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
Keywords: Inherited Neuropathies
Peripheral Neuropathy
Charcot-Marie-Tooth
Charcot-Marie-Tooth Disease
CMT
Lead sponsor: Hereditary Neuropathy Foundation
Sponsor class: OTHER_GOV
First posted: 2023-06-15
Enrollment: 10000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: This study is open to anyone that has Charcot-Marie-Tooth Disease or other Inherited Neuropathies.

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.


Eligibility criteria: 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

Primary outcomes:
measure: Identify the type of CMT
timeFrame: 156 weeks
measure: Disease Symptoms
timeFrame: 156 weeks
measure: Impact of symptoms on Activities of Daily Living
timeFrame: 156 weeks
measure: Associated Comorbidities
timeFrame: 156 weeks
Secondary outcomes:
Other outcomes:
Locations:
city: New York
country: United States
facility: Hereditary Neuropathy Foundation
state: New York
Study officials:
affiliation: Hereditary Neuropathy Foundation
name: Allison Moore
role: PRINCIPAL_INVESTIGATOR
References: