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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/ct2/show/NCT01193075




Registration number
NCT01193075
Ethics application status
Date submitted
9/08/2010
Date registered
1/09/2010
Date last updated
13/05/2024

Titles & IDs
Public title
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
Scientific title
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others
Secondary ID [1] 0 0
1U54NS065712-01
Secondary ID [2] 0 0
INC-6601
Universal Trial Number (UTN)
Trial acronym
INC-6601
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
CMT1B - Families/patients with genetically confirmed CMT1B

CMT2A - Families/patients with genetically confirmed CMT2A

CMT4A - Families/patients with genetically confirmed CMT4A

CMT4C - Families/patients with genetically confirmed CMT4C

All other CMT - Families/patients with all other forms of CMT or CMT that has not yet been genetically identified
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Charcot Marie Tooth Neuropathy Score (CMTNS)
Timepoint [1] 0 0
1 year
Primary outcome [2] 0 0
Minimal dataset
Timepoint [2] 0 0
1 year

Eligibility
Key inclusion criteria
All patients must be seen in-person at a participating center for the initial visit.

Inclusion Criteria - patients with CMT (all subtypes)

1. Patient has documented, pathogenic or likely pathogenic CMT-causing variant(s)

OR

2. Patient has a first- or second-degree family member (parent, child, sibling,
half-sibling, aunt, uncle, grandparent, or grandchild) with a documented pathogenic or
likely pathogenic CMT-causing variant AND a clear link between that family member and
the affected patient AND a phenotype consistent with the diagnosis

i. A clear link is necessary for a second-degree relative. For example, if a
grandparent is affected and has a pathogenic or likely pathogenic variant, and the
parent does not have any signs, symptoms, or electrophysiology consistent with the
diagnosis, there is no clear link unless the parent has also been found to have the
pathogenic or likely pathogenic variant such as in cases with reduced penetrance

ii. In cases where clear links are not available, genetic testing is required for the
patient or the family member who is not clearly affected.

3. Patients who have a variant of uncertain significance, as determined by the laboratory
performing the testing may still be included if one of the following circumstances
applies:

i. Variant is categorized as pathogenic or likely pathogenic per the ACMG variant
interpretation guidelines. [80, 81]

ii. Variant has been found in multiple affected people in a family and has not been
found in unaffected family members. (Note - both affected and unaffected family
members must be tested in this situation to be included).

iii. The principal investigator and the site investigator agree that the variant(s) is
(are) most likely pathogenic.

4. Patients whose clinical presentation is suggestive of CMT, but CMT type and variant
are unknown will be characterized by the following categories:

1. Nerve conduction velocities: demyelinating, axonal, intermediate

2. Inheritance: dominant, recessive, X-linked, or unknown

5. Patient or patient's legally authorized representative has understood and signed an
IRB approved consent form for the study. Teenagers (age 13 - 17 years) and cognitively
impaired adults who are able to read and write must sign an assent form (depending on
local ethics committee requirements).

Inclusion Criteria - Controls

1. Person does not have a peripheral neuropathy, as determined by the investigator.

2. Person has understood and signed an IRB approved consent form for the study. Teenagers
(age 13-17 years) must sign an assent form (depending on local ethics committee
requirements).

EXCLUSION CRITERIA

1. Patient has a variant of uncertain significance that cannot be further classified
following methods listed in the Inclusion Criteria.

2. Patient does not wish to be a part of the study or has not signed an informed consent
form.

3. Patient is deemed inappropriate by the Site PI.
Minimum age
No limit
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
Yes
Key exclusion criteria

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
1/04/2010
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
1/12/2026
Actual
Sample size
Target
5000
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
NSW
Recruitment hospital [1] 0 0
University of 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
California
Country [2] 0 0
United States of America
State/province [2] 0 0
Colorado
Country [3] 0 0
United States of America
State/province [3] 0 0
Connecticut
Country [4] 0 0
United States of America
State/province [4] 0 0
District of Columbia
Country [5] 0 0
United States of America
State/province [5] 0 0
Florida
Country [6] 0 0
United States of America
State/province [6] 0 0
Iowa
Country [7] 0 0
United States of America
State/province [7] 0 0
Maryland
Country [8] 0 0
United States of America
State/province [8] 0 0
Massachusetts
Country [9] 0 0
United States of America
State/province [9] 0 0
Michigan
Country [10] 0 0
United States of America
State/province [10] 0 0
Minnesota
Country [11] 0 0
United States of America
State/province [11] 0 0
New York
Country [12] 0 0
United States of America
State/province [12] 0 0
Pennsylvania
Country [13] 0 0
United States of America
State/province [13] 0 0
Tennessee
Country [14] 0 0
United States of America
State/province [14] 0 0
Washington
Country [15] 0 0
Canada
State/province [15] 0 0
Ontario
Country [16] 0 0
Italy
State/province [16] 0 0
Milan
Country [17] 0 0
United Kingdom
State/province [17] 0 0
England

Funding & Sponsors
Primary sponsor type
Other
Name
Michael Shy
Address
Country
Other collaborator category [1] 0 0
Other
Name [1] 0 0
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Address [1] 0 0
Country [1] 0 0
Other collaborator category [2] 0 0
Other
Name [2] 0 0
Johns Hopkins University
Address [2] 0 0
Country [2] 0 0
Other collaborator category [3] 0 0
Government body
Name [3] 0 0
National Institute of Neurological Disorders and Stroke (NINDS)
Address [3] 0 0
Country [3] 0 0
Other collaborator category [4] 0 0
Other
Name [4] 0 0
King's College Hospital NHS Trust
Address [4] 0 0
Country [4] 0 0
Other collaborator category [5] 0 0
Other
Name [5] 0 0
Nemours Children's Hospital
Address [5] 0 0
Country [5] 0 0
Other collaborator category [6] 0 0
Other
Name [6] 0 0
Stanford University
Address [6] 0 0
Country [6] 0 0
Other collaborator category [7] 0 0
Other
Name [7] 0 0
University of Pennsylvania
Address [7] 0 0
Country [7] 0 0
Other collaborator category [8] 0 0
Other
Name [8] 0 0
University of Rochester
Address [8] 0 0
Country [8] 0 0
Other collaborator category [9] 0 0
Other
Name [9] 0 0
Children's Hospital of Philadelphia
Address [9] 0 0
Country [9] 0 0
Other collaborator category [10] 0 0
Other
Name [10] 0 0
Sydney Children's Hospitals Network
Address [10] 0 0
Country [10] 0 0
Other collaborator category [11] 0 0
Other
Name [11] 0 0
Rare Diseases Clinical Research Network
Address [11] 0 0
Country [11] 0 0
Other collaborator category [12] 0 0
Other
Name [12] 0 0
Muscular Dystrophy Association
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
Charcot-Marie-Tooth Association
Address [14] 0 0
Country [14] 0 0
Other collaborator category [15] 0 0
Other
Name [15] 0 0
Massachusetts General Hospital
Address [15] 0 0
Country [15] 0 0
Other collaborator category [16] 0 0
Other
Name [16] 0 0
Cedars-Sinai Medical Center
Address [16] 0 0
Country [16] 0 0
Other collaborator category [17] 0 0
Other
Name [17] 0 0
University of Miami
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
Connecticut Children's Medical Center
Address [19] 0 0
Country [19] 0 0
Other collaborator category [20] 0 0
Other
Name [20] 0 0
University of Colorado, Denver
Address [20] 0 0
Country [20] 0 0
Other collaborator category [21] 0 0
Other
Name [21] 0 0
The National Hospital for Neurology and Neurosurgery
Address [21] 0 0
Country [21] 0 0
Other collaborator category [22] 0 0
Other
Name [22] 0 0
Dubowitz Neuromuscular Centre
Address [22] 0 0
Country [22] 0 0

Ethics approval
Ethics application status

Summary
Brief summary
This is an observational longitudinal study to determine the natural history and
genotype-phenotype correlations of disease causing mutations in Charcot Marie Tooth disease
(CMT) type 1B (CMT1B), 2A (CMT2A), 4A (CMT4A), and 4C (CMT4C).

The investigators will also be determine the capability of the newly developed CMT Pediatric
Scale (CMT Peds scale) and the Minimal Dataset to measure impairment and perform longitudinal
measurements in patients with multiple forms of CMT over a five year window
Trial website
https://clinicaltrials.gov/ct2/show/NCT01193075
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Michael E Shy, MD
Address 0 0
University of Iowa
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Nicole M Kressin, MSN, RN
Address 0 0
Country 0 0
Phone 0 0
319-384-6362
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/ct2/show/NCT01193075