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Trial record 10 of 340 for:    CMT

Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others (INC-6601)

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ClinicalTrials.gov Identifier: NCT01193075
Recruitment Status : Recruiting
First Posted : September 1, 2010
Last Update Posted : July 23, 2019
Sponsor:
Collaborators:
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Johns Hopkins University
National Institute of Neurological Disorders and Stroke (NINDS)
King's College Hospital NHS Trust
Nemours Children's Clinic
Stanford University
University of Pennsylvania
University of Rochester
Children's Hospital of Philadelphia
Sydney Children's Hospitals Network
Rare Diseases Clinical Research Network
Muscular Dystrophy Association
National Institutes of Health (NIH)
Charcot-Marie-Tooth Association
Massachusetts General Hospital
Cedars-Sinai Medical Center
University of Miami
Dubowitz Neuromuscular Centre
University of Minnesota - Clinical and Translational Science Institute
University of Connecticut
University of Colorado, Denver
Detroit Medical Center
Ohio State University
Information provided by (Responsible Party):
Michael Shy, University of Iowa

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


Condition or disease
Charcot Marie Tooth Disease

  Show Detailed Description

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Study Type : Observational
Estimated Enrollment : 5000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others
Actual Study Start Date : April 1, 2010
Estimated Primary Completion Date : December 1, 2019
Estimated Study Completion Date : December 1, 2019


Group/Cohort
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



Primary Outcome Measures :
  1. Charcot Marie Tooth Neuropathy Score (CMTNS) [ Time Frame: 1 year ]
    Charcot Marie Tooth Neuropathy Score (CMTNS) is a composite measure of disability based on a person's symptoms, signs, and electrophysiology. It is based on a 36 point scale, with 9 items each worth up to 4 points. A higher score signifies increased disability.

  2. Minimal dataset [ Time Frame: 1 year ]
    This includes diagnosis, family history, developmental history, walking ability, hand function, strength, sensation, and neurophysiology.



Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients who present to a participating site and have Charcot Marie Tooth disease (CMT) will be recruited for participation.
Criteria

Inclusion Criteria:

All patients MUST be seen in person at a participating clinical site to be enrolled in the study.

Inclusion Criteria - Charcot Marie Tooth disease type 1B (CMT1B) and type 2A (CMT2A)

  1. Patient has documented, disease causing mutation in the MPZ gene (for CMT1B) or in MFN2 (for CMT2A) OR
  2. Patient has a first or second degree family member (parent, child, sibling, half-sibling, aunt, uncle, grandparent, or grandchild) with a documented disease causing mutation AND a clear link between that family member and the affected patient AND a phenotype consistent with the diagnosis

    • A clear link is necessary for a second-degree relative. For example, if a grandparent is affected and has a disease causing mutation, and the parent does not have any signs, symptoms, or electrophysiology consistent with the diagnosis, there is no clear link.
    • 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:

    • Variant is listed as disease causing at http://www.molgen.ua.ac.be/CMTMutations/Mutations/Default.cfm.
    • 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).
  4. Patient has understood and signed an IRB approved consent form for the study. Teenagers (age 13 - 17 years) must sign an assent form. See Appendix A for a sample consent form with HIPAA. See Appendix B for a sample assent form.

Inclusion Criteria - Charcot Marie Tooth disease type 4A (CMT4A) and 4C (CMT4C)

  1. Patient has two documented, disease causing mutations in the GDAP1 gene (for CMT4A) or two mutations in the SH3TC2 gene (for CMT4C) OR
  2. Patients who have variants of uncertain significance, as determined by the laboratory performing the testing, may still be included if one of the following circumstances applies:

    • Patient has one known disease causing mutation and one variant that is listed as disease causing at http://www.molgen.ua.ac.be/CMTMutations/Mutations/Default.cfm.

    OR

    • Patient has two variants listed as disease causing mutations at the above website.

    OR

    • Patient is homozygous for a variant with or without consanguineous parents. OR
    • The principal investigator and the site investigator agree that the variant(s) is (are) most likely disease causing.
  3. Patient has understood and signed an IRB approved consent form for the study. Teenagers (age 13 - 17 years) must sign an assent form.

ADDITIONAL PARTICIPANTS

For patients with other forms of CMT than listed above, we will perform all assessments to prepare for further studies into the disease and the disease process. These patients will be characterized based on their type of CMT, if known, or by the following categories:

  • Nerve conduction velocities: demyelinating , axonal, intermediate
  • Inheritance: dominant, recessive, X-linked, or unknown

Exclusion Criteria:

  1. Patient does not have a documented mutation in MPZ (for CMT1B) or MFN2 (for CMT2A), nor does a first or second degree family member. Patient does not have two documented mutations in GDAP1 (for CMT4A) or SH3TC2 (CMT4C).
  2. Patient has a variant of uncertain significance that cannot be further classified following methods listed in the Inclusion Criteria.
  3. Patient does not wish to be a part of the study or has not signed an informed consent form.
  4. Patient is deemed inappropriate by the Site PI.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01193075


Contacts
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Contact: Shawna M Feely, MS, CGC 319-384-6362 UICMTClinic@uiowa.edu
Contact: Tiffany Grider, MS, CGC 319-384-6362 UICMTClinic@uiowa.edu

Locations
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United States, California
Cedars-Sinai Medical Center Recruiting
Los Angeles, California, United States, 90048
Contact: Tara Jones, MS, LCGC    310-423-4268    tara.jones@cshs.org   
Principal Investigator: Robert H Baloh, MD, PhD         
Sub-Investigator: Richard A Lewis, MD         
Stanford University Recruiting
Palo Alto, California, United States, 94305
Contact: Carly E Siskind, MS    650-721-5588    csiskind@standfordmed.org   
Principal Investigator: John Day, MD, PhD         
United States, Colorado
University of Colorado Hospital Recruiting
Aurora, Colorado, United States, 80045
Contact: Sarrah Knause    303-724-2188    sarrah.knause@ucdenver.edu   
Principal Investigator: Vera Fridman, MD         
United States, Connecticut
University of Connecticut/Connecticut Children's Medical Center Recruiting
Hartford, Connecticut, United States, 06106
Contact: Ashley Kosikowski, BA    860-837-5871    akosikowski@connecticutchildrens.org   
Principal Investigator: Gyula Acsadi, MD, PhD         
United States, Florida
University of Miami Recruiting
Miami, Florida, United States, 33136
Contact: Lisa Abreu, MPH    305-243-2550    labreu@med.miami.edu   
Principal Investigator: Stephan Zuchner, MD         
Principal Investigator: Mario Saporta, MD         
Nemours Children's Clinic Recruiting
Orlando, Florida, United States, 32827
Contact: Laura Sissons-Ross    407-567-6206    lsisson@uw.edu   
Principal Investigator: Richard Finkel, MD         
United States, Iowa
University of Iowa Recruiting
Iowa City, Iowa, United States, 52242
Contact: Shawna Feely, MS, CGC    319-384-8400    UICMTClinic@uiowa.edu   
Principal Investigator: Michael E Shy, MD         
United States, Maryland
Johns Hopkins University Recruiting
Baltimore, Maryland, United States, 21205
Contact: Simone Thomas    410-550-9005    sthom125@jhmi.edu   
Principal Investigator: Tom Lloyd, MD         
Principal Investigator: Charlotte Sumner, MD         
United States, Massachusetts
Harvard/Massachusetts General Hospital Recruiting
Boston, Massachusetts, United States, 02114
Contact: Natalie Grant    617-643-6996    nrgrant@mgh.harvard.edu   
Principal Investigator: Reza Seyedsadjadi, MD         
United States, Michigan
Wayne State University/Detroit Medical Center Not yet recruiting
Detroit, Michigan, United States, 48201
Contact: Melody Hackett    313-966-0473    mgilroy@med.wayne.edu   
Principal Investigator: Jun Li, MD, PhD         
United States, Minnesota
University of Minnesota Recruiting
Minneapolis, Minnesota, United States, 55455
Contact: David Walk, MD    612-624-0181    walkx001@umn.edu   
Principal Investigator: David Walk, MD         
United States, New York
University of Rochester Recruiting
Rochester, New York, United States, 14642
Contact: Janet Sowden    585-275-1267    janet_sowden@urmc.rochester.edu   
Principal Investigator: David Herrmann, MD         
United States, Ohio
Ohio State University Wexner Medical Center Not yet recruiting
Columbus, Ohio, United States, 43210
Principal Investigator: Amro Stino, MD         
United States, Pennsylvania
Children's Hospital of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Sabrina Yum, MD    215-590-1719    Yums@email.chop.edu   
Principal Investigator: Sabrina Yum, MD         
University of Pennsylvania Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Diana Lee    215-349-5313    diana.lee@uphs.upenn.edu   
Principal Investigator: Steven Scherer, MD         
Australia, New South Wales
University of Westmead Recruiting
Sydney, New South Wales, Australia, 2145
Contact: Gabrielle Donlevy    +61 2 9845 1904    gabrielle.donlevy@health.nsw.gov.au   
Principal Investigator: Joshua Burns, PhD         
Italy
C. Besta Neurological Institute Recruiting
Milan, Italy
Contact: Giuseppe Piscosquito    +39-02 2394 3001    giuseppe.piscosquito@istituto-besta.it   
Principal Investigator: Davide Pareyson, MD         
United Kingdom
National Hospital of Neurology and Neurosurgery Recruiting
London, England, United Kingdom, WC1N 3BG
Contact: Matilde Laura    +44 203 448 8024    m.laura@ucl.ac.uk   
Principal Investigator: Mary Reilly, MD         
Dubowitz Neuromuscular Centre Recruiting
London, United Kingdom
Contact: Hinal Patel    +44 0 20 7905 2608    hinal.patel@ucl.ac.uk   
Principal Investigator: Francesco Muntoni, MD         
Sponsors and Collaborators
Michael Shy
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Johns Hopkins University
National Institute of Neurological Disorders and Stroke (NINDS)
King's College Hospital NHS Trust
Nemours Children's Clinic
Stanford University
University of Pennsylvania
University of Rochester
Children's Hospital of Philadelphia
Sydney Children's Hospitals Network
Rare Diseases Clinical Research Network
Muscular Dystrophy Association
National Institutes of Health (NIH)
Charcot-Marie-Tooth Association
Massachusetts General Hospital
Cedars-Sinai Medical Center
University of Miami
Dubowitz Neuromuscular Centre
University of Minnesota - Clinical and Translational Science Institute
University of Connecticut
University of Colorado, Denver
Detroit Medical Center
Ohio State University
Investigators
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Principal Investigator: Michael E Shy, MD University of Iowa

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Michael Shy, Professor, University of Iowa
ClinicalTrials.gov Identifier: NCT01193075     History of Changes
Other Study ID Numbers: INC-6601
1U54NS065712-01 ( U.S. NIH Grant/Contract )
First Posted: September 1, 2010    Key Record Dates
Last Update Posted: July 23, 2019
Last Verified: February 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: De-identified RDCRN data is submitted to an ORDR-designated repository. For the current grant cycle, that repository has been dbGaP.
Supporting Materials: Study Protocol
Statistical Analysis Plan (SAP)
Informed Consent Form (ICF)
Clinical Study Report (CSR)
Analytic Code
Time Frame: For Observational/Longitudinal/Natural History/Epidemiology studies): For the current grant cycle, available data will be released to the repository and will become available to the scientific community one year after publication of planned analyses, or after a period of 5 years from the date when the data were collected, whichever comes first.
Access Criteria: - For the current grant cycle, once de-identified data is posted on dbGaP, a summary of the study is posted and individual participant data is accessed via a request through dbGaP.
URL: https://www.ncbi.nlm.nih.gov/gap
Keywords provided by Michael Shy, University of Iowa:
Charcot Marie Tooth disease
CMT
HMSN
HMN
HSN
CMT1
CMT2
Additional relevant MeSH terms:
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Charcot-Marie-Tooth Disease
Nerve Compression Syndromes
Hereditary Sensory and Motor Neuropathy
Tooth Diseases
Stomatognathic Diseases
Nervous System Malformations
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Polyneuropathies
Peripheral Nervous System Diseases
Neuromuscular Diseases
Congenital Abnormalities
Genetic Diseases, Inborn
4-des-dimethylaminotetracycline
Matrix Metalloproteinase Inhibitors
Protease Inhibitors
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action