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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT01193088




Registration number
NCT01193088
Ethics application status
Date submitted
9/08/2010
Date registered
1/09/2010
Date last updated
13/05/2024

Titles & IDs
Public title
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
Scientific title
Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT
Secondary ID [1] 0 0
1U54NS065712-01
Secondary ID [2] 0 0
INC-6602
Universal Trial Number (UTN)
Trial acronym
INC-6602
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Charcot-Marie-Tooth Disease, Type Ia (Disorder) 0 0
HMSN 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
CMT1A - Families/people with genetically defined CMT1A

Genetically undefined CMT - Families/people with genetically undefined CMT with common causes ruled out.
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Charcot Marie Tooth disease type 1A (CMT1A) gene modifiers
Timepoint [1] 0 0
once
Primary outcome [2] 0 0
New genetic causes of CMT
Timepoint [2] 0 0
Once

Eligibility
Key inclusion criteria
All patients must agree to take part in the study and sign a consent form. A teenager (age 13-17 years) considering enrolling must agree to take part in the study and sign an assent form (depending on local ethics committee requirements).

Additional inclusion criteria are described below.

CMT1A Gene Modifier Study

Patients must have at least one of the following:

1. Patient has a documented PMP22 duplication. AND/OR
2. Patient has a first or second degree relative (parent, child, sibling, half- sibling, aunt, uncle, grandparent, grandchild, niece, or nephew) with a documented PMP22 duplication AND a clear link between that family member and the affected patient AND a phenotype consistent with CMT1A.

i. A clear link is necessary for a second-degree relative. For example, if a grandparent is affected and has a PMP22 duplication, and the parent does not have any signs, symptoms, or electrophysiology consistent with CMT1A, there is no clear link.

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

Inclusion Criteria - Patients for CMT Exome Project

a. Patient has demonstrated neuropathy on nerve conduction studies or clinically diagnosed genetic neuropathy, in the opinion of the investigator or genetic counsellor.

Inclusion Criteria - Controls for CMT Exome Project

1. Person is a family member of a CMT patient who is enrolled in the CMT Exome Project.

AND one of the following:
2. Person does not have a peripheral neuropathy, in the opinion of the investigator or genetic counsellor.

OR
3. Person is suspected to have a peripheral neuropathy, but has not been examined at an INC site.
Minimum age
No limit
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
Yes
Key exclusion criteria
Exclusion Criteria

1. Patient does not wish to participate or does not sign a consent form.
2. For CMT Exome Project, patient has a genetically confirmed form of CMT (i.e. mutation in MFN2 causing CMT2A, mutation in GARS causing CMT2D, etc.).
3. Patients with known neuropathy from a non-genetic source, such as chemotherapies (i.e. Vincristine, Taxol, Cisplatin), diabetes, alcoholism will be evaluated independently so that genetic contributions to their effects on CMT1A phenotypes can also be analyzed.

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
1/05/2010
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
1/12/2026
Actual
Sample size
Target
1050
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
NSW
Recruitment hospital [1] 0 0
Children's Hospital 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
Florida
Country [5] 0 0
United States of America
State/province [5] 0 0
Iowa
Country [6] 0 0
United States of America
State/province [6] 0 0
Maryland
Country [7] 0 0
United States of America
State/province [7] 0 0
Massachusetts
Country [8] 0 0
United States of America
State/province [8] 0 0
Minnesota
Country [9] 0 0
United States of America
State/province [9] 0 0
New York
Country [10] 0 0
United States of America
State/province [10] 0 0
Pennsylvania
Country [11] 0 0
Italy
State/province [11] 0 0
Milan
Country [12] 0 0
United Kingdom
State/province [12] 0 0
England
Country [13] 0 0
United Kingdom
State/province [13] 0 0
London

Funding & Sponsors
Primary sponsor type
Other
Name
University of Iowa
Address
Country
Other collaborator category [1] 0 0
Government body
Name [1] 0 0
National Institute of Neurological Disorders and Stroke (NINDS)
Address [1] 0 0
Country [1] 0 0
Other collaborator category [2] 0 0
Other
Name [2] 0 0
Muscular Dystrophy Association
Address [2] 0 0
Country [2] 0 0
Other collaborator category [3] 0 0
Other
Name [3] 0 0
University of Rochester
Address [3] 0 0
Country [3] 0 0
Other collaborator category [4] 0 0
Other
Name [4] 0 0
University of Pennsylvania
Address [4] 0 0
Country [4] 0 0
Other collaborator category [5] 0 0
Other
Name [5] 0 0
King's College Hospital NHS Trust
Address [5] 0 0
Country [5] 0 0
Other collaborator category [6] 0 0
Other
Name [6] 0 0
Sydney Children's Hospitals Network
Address [6] 0 0
Country [6] 0 0
Other collaborator category [7] 0 0
Other
Name [7] 0 0
Children's Hospital of Philadelphia
Address [7] 0 0
Country [7] 0 0
Other collaborator category [8] 0 0
Other
Name [8] 0 0
University of Miami
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
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Address [10] 0 0
Country [10] 0 0
Other collaborator category [11] 0 0
Other
Name [11] 0 0
Cedars-Sinai Medical Center
Address [11] 0 0
Country [11] 0 0
Other collaborator category [12] 0 0
Other
Name [12] 0 0
Nemours Children's Clinic
Address [12] 0 0
Country [12] 0 0
Other collaborator category [13] 0 0
Other
Name [13] 0 0
Stanford University
Address [13] 0 0
Country [13] 0 0
Other collaborator category [14] 0 0
Other
Name [14] 0 0
University of Minnesota
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
University of Colorado, Denver
Address [16] 0 0
Country [16] 0 0
Other collaborator category [17] 0 0
Other
Name [17] 0 0
Children's National Research Institute
Address [17] 0 0
Country [17] 0 0
Other collaborator category [18] 0 0
Other
Name [18] 0 0
University of Michigan
Address [18] 0 0
Country [18] 0 0
Other collaborator category [19] 0 0
Other
Name [19] 0 0
St. Jude Children's Research Hospital
Address [19] 0 0
Country [19] 0 0
Other collaborator category [20] 0 0
Other
Name [20] 0 0
Connecticut Children's Medical Center
Address [20] 0 0
Country [20] 0 0
Other collaborator category [21] 0 0
Other
Name [21] 0 0
Seattle Children's Hospital
Address [21] 0 0
Country [21] 0 0
Other collaborator category [22] 0 0
Other
Name [22] 0 0
The Hospital for Sick Children
Address [22] 0 0
Country [22] 0 0

Ethics approval
Ethics application status

Summary
Brief summary
This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has.
Trial website
https://clinicaltrials.gov/study/NCT01193088
Trial related presentations / publications
Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Zuchner S. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann Neurol. 2011 Mar;69(3):464-70. doi: 10.1002/ana.22235. Epub 2011 Jan 20.
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
Tiffany Grider, MS, CGC
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/study/NCT01193088