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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT02979145




Registration number
NCT02979145
Ethics application status
Date submitted
29/11/2016
Date registered
1/12/2016
Date last updated
1/12/2016

Titles & IDs
Public title
Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)
Scientific title
Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT
Secondary ID [1] 0 0
6611
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
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
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

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Patients with CMT - Two groups of patients will be included: Group 1 (Definitive): Children with known CMT where genetic testing confirms the diagnosis, or children with a clinical diagnosis including electrophysiology confirming the presence of CMT and a corresponding family history where a first or second degree relative has a genetic diagnosis; or Group 2 (At risk): A clinical diagnosis of CMT awaiting genetic testing or confirmatory electrophysiology and evidence of a genetic diagnosis in a first or second degree relative; or individuals identified as being at risk of a CMT diagnosis (prodromal patients), without the onset of signs or symptoms.

Controls - Healthy controls will be included from unaffected family members or friends accompanying patients at INC sites. Healthy controls are defined as boys and girls aged 0-=4 years without a diagnosis of CMT or any of the other study exclusion criteria.
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
CMT Infant Scale Part 1
Timepoint [1] 0 0
1 year
Primary outcome [2] 0 0
The CMT Infant Scale Part 2
Timepoint [2] 0 0
1 year
Primary outcome [3] 0 0
The CMT Infant Scale Part 3
Timepoint [3] 0 0
1 year
Secondary outcome [1] 0 0
Evaluate CMT Infant Scale (CMTInfS) in CMT natural history study
Timepoint [1] 0 0
6 months - 1 year

Eligibility
Key inclusion criteria
Inclusion Criteria (patients with CMT):

* Patient is =4 years of age
* Parent(s) or guardians have agreed for the child to take part in the study and have signed an informed consent form.
* Patient has known or probable inherited neuropathy
* Patient participates in the INC Natural History Study (INC 6601)

Inclusion Criteria (controls):

* Participant is =4 years of age
* Parent(s) or guardians have agreed for the child to take part in the study and have signed an informed consent form.
* Participant does NOT have an inherited neuropathy as determined by the investigator
* Participant is an unaffected friend or family member of a patient with CMT (patient does not have to be included in the study)
Minimum age
No limit
Maximum age
4 Years
Sex
Both males and females
Can healthy volunteers participate?
Yes
Key exclusion criteria
Exclusion Criteria (patients with CMT):

* Patient has a known condition of acquired neuropathy including toxic (e.g. medication related), metabolic (e.g. diabetic), immune mediated or inflammatory (AIDP or CIDP) neuropathies, a neuropathy related to leukodystrophy, or a congenital muscular dystrophy.
* Patient has a severe general medical condition, as determined by the site Principal Investigator.
* Patient has known normal nerve conductions of upper and lower limbs. This will be considered as exclusion criteria because it documents that the child does not have a large-fibre neuropathy. However, patients will not be required to have nerve conduction studies (NCS) or electromyography (EMG).

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
UNKNOWN
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
1/10/2016
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
Sample size
Target
200
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
NSW
Recruitment hospital [1] 0 0
The Children's Hospital at Westmead - Sydney
Recruitment postcode(s) [1] 0 0
2145 - Sydney
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
Iowa
Country [2] 0 0
United States of America
State/province [2] 0 0
Pennsylvania
Country [3] 0 0
Italy
State/province [3] 0 0
Milan

Funding & Sponsors
Primary sponsor type
Other
Name
Sydney Children's Hospitals Network
Address
Country
Other collaborator category [1] 0 0
Other
Name [1] 0 0
University of Iowa
Address [1] 0 0
Country [1] 0 0
Other collaborator category [2] 0 0
Other
Name [2] 0 0
Children's Hospital of Philadelphia
Address [2] 0 0
Country [2] 0 0
Other collaborator category [3] 0 0
Other
Name [3] 0 0
University of Pennsylvania
Address [3] 0 0
Country [3] 0 0
Other collaborator category [4] 0 0
Other
Name [4] 0 0
University of Rochester
Address [4] 0 0
Country [4] 0 0
Other collaborator category [5] 0 0
Other
Name [5] 0 0
National Hospital of Neurology and Neurosurgery
Address [5] 0 0
Country [5] 0 0
Other collaborator category [6] 0 0
Other
Name [6] 0 0
Dubowitz Neuromuscular Centre
Address [6] 0 0
Country [6] 0 0
Other collaborator category [7] 0 0
Other
Name [7] 0 0
University of Miami
Address [7] 0 0
Country [7] 0 0
Other collaborator category [8] 0 0
Other
Name [8] 0 0
Carlo Besta Neurological Institute
Address [8] 0 0
Country [8] 0 0
Other collaborator category [9] 0 0
Other
Name [9] 0 0
Johns Hopkins University
Address [9] 0 0
Country [9] 0 0
Other collaborator category [10] 0 0
Other
Name [10] 0 0
Vanderbilt University
Address [10] 0 0
Country [10] 0 0
Other collaborator category [11] 0 0
Other
Name [11] 0 0
University of Washington
Address [11] 0 0
Country [11] 0 0
Other collaborator category [12] 0 0
Other
Name [12] 0 0
Nemours Children's Hospital
Address [12] 0 0
Country [12] 0 0
Other collaborator category [13] 0 0
Government body
Name [13] 0 0
National Institutes of Health (NIH)
Address [13] 0 0
Country [13] 0 0
Other collaborator category [14] 0 0
Other
Name [14] 0 0
Stanford University
Address [14] 0 0
Country [14] 0 0
Other collaborator category [15] 0 0
Other
Name [15] 0 0
Cedars-Sinai Medical Center
Address [15] 0 0
Country [15] 0 0
Other collaborator category [16] 0 0
Other
Name [16] 0 0
Harvard/Massachusetts General Hospital
Address [16] 0 0
Country [16] 0 0
Other collaborator category [17] 0 0
Other
Name [17] 0 0
University of Michigan
Address [17] 0 0
Country [17] 0 0
Other collaborator category [18] 0 0
Other
Name [18] 0 0
University of Minnesota
Address [18] 0 0
Country [18] 0 0
Other collaborator category [19] 0 0
Other
Name [19] 0 0
University of Utah
Address [19] 0 0
Country [19] 0 0
Other collaborator category [20] 0 0
Other
Name [20] 0 0
University of Connecticut
Address [20] 0 0
Country [20] 0 0
Other collaborator category [21] 0 0
Other
Name [21] 0 0
Universiteit Antwerpen
Address [21] 0 0
Country [21] 0 0

Ethics approval
Ethics application status

Summary
Brief summary
The purpose of this study is to develop and validate a clinical outcome measure to evaluate disability and disease progression of children 3 years of age and younger (infants and toddlers) with various types of Charcot-Marie-Tooth disease (CMT).
Trial website
https://clinicaltrials.gov/study/NCT02979145
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/study/NCT02979145