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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT05902351




Registration number
NCT05902351
Ethics application status
Date submitted
2/05/2023
Date registered
15/06/2023
Date last updated
1/10/2024

Titles & IDs
Public title
Natural History Study for Charcot Marie Tooth Disease
Scientific title
Global Registry for Inherited Neuropathies Natural History Study for Charcot Marie Tooth Disease
Secondary ID [1] 0 0
GRIN1001
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Charcot-Marie-Tooth Disease 0 0
Charcot-Marie-Tooth 0 0
Charcot-Marie-Tooth Disease, Type IA 0 0
Charcot-Marie-Tooth Disease Type 2A 0 0
Charcot-Marie-Tooth Disease Type 2 0 0
Charcot-Marie-Tooth Disease, Type 2C 0 0
Charcot-Marie-Tooth Disease Type 2A2B 0 0
Charcot-Marie-Tooth Disease Type 2B2 0 0
Charcot-Marie-Tooth Disease Type 2A1 0 0
Charcot-Marie-Tooth Disease Type 4B1 0 0
Charcot-Marie-Tooth Disease, Type IB 0 0
Charcot-Marie-Tooth Disease Type 2B1 0 0
Charcot-Marie-Tooth Disease Type 2U (Diagnosis) 0 0
Charcot-Marie-Tooth Disease Type 4A 0 0
Charcot-Marie-Tooth Disease, Type 4A, Axonal Form 0 0
Charcot-Marie-Tooth Disease Type 2A2A 0 0
Charcot-Marie-Tooth Disease Type 2S (Disorder) 0 0
Charcot-Marie-Tooth Disease and Deafness 0 0
Charcot-Marie-Tooth Disease Type 4B2 0 0
Charcot-Marie-Tooth Disease Type 4H 0 0
Charcot-Marie-Tooth Disease Type 1F 0 0
Charcot-Marie-Tooth Disease Type 4C 0 0
Charcot-Marie-Tooth Disease Type 4E 0 0
Charcot-Marie-Tooth Disease Type 1D 0 0
Charcot-Marie-Tooth Disease Type 2Q (Diagnosis) 0 0
Charcot-Marie-Tooth Disease Type 2A2 0 0
Charcot-Marie-Tooth Disease Type 2N (Diagnosis) 0 0
Charcot-Marie-Tooth Disease Type 2B5 0 0
Charcot-Marie-Tooth Disease Type 2D 0 0
Charcot-Marie-Tooth Disease Type 4D 0 0
Charcot-Marie-Tooth Disease Type 2K 0 0
Charcot-Marie-Tooth Disease Type 2L (Diagnosis) 0 0
Charcot-Marie-Tooth Disease Type 2T 0 0
Charcot-Marie-Tooth Disease Type 2I 0 0
Charcot-Marie-Tooth Disease Type 2J 0 0
Charcot-Marie-Tooth Disease Type 2E 0 0
Charcot-Marie-Tooth Disease Type 2G 0 0
Charcot-Marie-Tooth Disease Type 1C 0 0
Charcot-Marie-Tooth Disease Type 2R 0 0
Charcot-Marie-Tooth Disease Type 2O (Diagnosis) 0 0
Charcot-Marie-Tooth Disease Type 2M 0 0
Charcot-Marie-Tooth Disease Type 2P 0 0
Charcot-Marie-Tooth Disease Type 2Y 0 0
Charcot-Marie-Tooth Disease Type 4F (Diagnosis) 0 0
Charcot-Marie-Tooth Disease Type 4B3 0 0
Charcot-Marie-Tooth Disease Type 2H 0 0
HNPP 0 0
X-Linked Charcot-Marie-Tooth Disease 0 0
Condition category
Condition code
Oral and Gastrointestinal 0 0 0 0
Other diseases of the mouth, teeth, oesophagus, digestive system including liver and colon
Ear 0 0 0 0
Deafness
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Musculoskeletal 0 0 0 0
Other muscular and skeletal disorders
Neurological 0 0 0 0
Other neurological disorders
Eye 0 0 0 0
Diseases / disorders of the eye

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Identify the type of CMT
Timepoint [1] 0 0
156 weeks
Primary outcome [2] 0 0
Disease Symptoms
Timepoint [2] 0 0
156 weeks
Primary outcome [3] 0 0
Impact of symptoms on Activities of Daily Living
Timepoint [3] 0 0
156 weeks
Primary outcome [4] 0 0
Associated Comorbidities
Timepoint [4] 0 0
156 weeks

Eligibility
Key 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.
Minimum age
No limit
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
People that do not have Charcot-Marie-Tooth or other Inherited Neuropathies

Study design
Purpose
Duration
Selection
Timing
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
1/11/2013
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
31/12/2029
Actual
Sample size
Target
10000
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
New York

Funding & Sponsors
Primary sponsor type
Government body
Name
Hereditary Neuropathy Foundation
Address
Country

Ethics approval
Ethics application status

Summary
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 website
https://clinicaltrials.gov/study/NCT05902351
Trial related presentations / publications
Public notes
This record is viewable in the ANZCTR as it had previously listed Australia and/or New Zealand as a recruitment site, however these sites have since been removed

Contacts
Principal investigator
Name 0 0
Allison Moore
Address 0 0
Hereditary Neuropathy Foundation
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Allison Moore
Address 0 0
Country 0 0
Phone 0 0
212-722-8396
Fax 0 0
Email 0 0
[email protected]
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/study/NCT05902351