Trial record 6 of 123 for:    "Roussy Levy syndrome"

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

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2014 by University of Iowa
Sponsor:
Collaborators:
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Johns Hopkins University
King's College Hospital NHS Trust
Nemours Children's Clinic
Stanford University
University of Pennsylvania
University of Rochester
University of Washington
Vanderbilt University
Children's Hospital of Philadelphia
The Children's Hospital at Westmead
Rare Diseases Clinical Research Network
Muscular Dystrophy Association
Charcot-Marie-Tooth Association
University of Michigan
Information provided by (Responsible Party):
Michael Shy, University of Iowa
ClinicalTrials.gov Identifier:
NCT01193075
First received: August 9, 2010
Last updated: March 25, 2014
Last verified: March 2014
  Purpose

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
Charcot Marie Tooth Disease

Study Type: Observational
Study Design: 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

Resource links provided by NLM:


Further study details as provided by University of Iowa:

Primary Outcome Measures:
  • Charcot Marie Tooth Neuropathy Score (CMTNS) [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    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.

  • Minimal dataset [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    This includes diagnosis, family history, developmental history, walking ability, hand function, strength, sensation, and neurophysiology.


Estimated Enrollment: 3000
Study Start Date: April 2010
Estimated Primary Completion Date: December 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts
CMT1B
CMT2A
CMT4A
CMT4C
All other CMT

  Show Detailed Description

  Eligibility

Genders Eligible for Study:   Both
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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01193075

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

Locations
United States, California
Stanford University Recruiting
Palo Alto, California, United States
Contact: Carly E Siskind, MS    650-721-5588    csiskind@standfordmed.org   
Principal Investigator: John Day, MD, PhD         
United States, Florida
Nemours Children's Clinic Recruiting
Orlando, Florida, United States
Contact: Shannon Henry, MA    407-650-7604    Shannon.Henry@nemours.org   
Principal Investigator: Richard Finkel, MD         
United States, Iowa
University of Iowa Recruiting
Iowa City, Iowa, United States, 52242
Contact: Anna Sorey, BS    319-384-6362    Anna-Sorey@uiowa.edu   
Principal Investigator: Michael E Shy, MD         
United States, Maryland
Johns Hopkins University Recruiting
Baltimore, Maryland, United States, 21205
Contact: Andrea Kelley    443-287-0627    akelle12@jhmi.edu   
Principal Investigator: Tom Lloyd, MD         
Principal Investigator: Charlotte Sumner, MD         
United States, Michigan
University of Michigan Recruiting
Ann Arbor, Michigan, United States, 48109
Contact: Lauren Bogue, MS, CGC    734-647-9224    boguelc@med.umich.edu   
Principal Investigator: Sindhu Ramchandren, 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, 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: Meredith Gage    215-349-5313    mgage@law.upenn.edu   
Principal Investigator: Steven Scherer, MD         
United States, Tennessee
Vanderbilt University Recruiting
Nashville, Tennessee, United States
Contact: Jun Li, MD, PhD    615-343-2955    jun.li.2@vanderbilt.edu   
Principal Investigator: Jun Li, MD, PhD         
United States, Washington
University of Washington Recruiting
Seattle, Washington, United States, 98195
Contact: Corrie Smith, MS    206-598-3462    corrieo@u.washington.edu   
Principal Investigator: Tom Bird, MD         
Australia, New South Wales
University of Westmead Recruiting
Sydney, New South Wales, Australia, 2145
Contact: Natalie Gabrael    +61 2 9845 1904    natalig1@chw.edu.au   
Principal Investigator: Joshua Burns, PhD         
Italy
C. Besta Neurological Institute Recruiting
Milan, Italy
Contact: Chiara Marchesi    +39-02 2394 3001    chiara.marchesi@istituto-besta.it   
Principal Investigator: Davide Pareyson, MD         
United Kingdom
National Hospital of Neurology and Neurosurgery Recruiting
London, England, United Kingdom, WC1N 3BG
Contact: Jacky Molyneaux,    +44 207 380 6852    j.molyneaux@ion.ucl.ac.uk   
Principal Investigator: Mary Reilly, MD         
Sponsors and Collaborators
University of Iowa
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Johns Hopkins University
King's College Hospital NHS Trust
Nemours Children's Clinic
Stanford University
University of Pennsylvania
University of Rochester
University of Washington
Vanderbilt University
Children's Hospital of Philadelphia
The Children's Hospital at Westmead
Rare Diseases Clinical Research Network
Muscular Dystrophy Association
Charcot-Marie-Tooth Association
University of Michigan
Investigators
Principal Investigator: Michael E Shy, MD University of Iowa
  More Information

Additional Information:
No publications provided

Responsible Party: Michael Shy, Professor, University of Iowa
ClinicalTrials.gov Identifier: NCT01193075     History of Changes
Other Study ID Numbers: INC-6601, 1U54NS065712-01
Study First Received: August 9, 2010
Last Updated: March 25, 2014
Health Authority: United States: Institutional Review Board
United Kingdom: Research Ethics Committee
Australia: Human Research Ethics Committee
Italy: Ethics Committee

Keywords provided by University of Iowa:
Charcot Marie Tooth disease
CMT
HMSN
HMN
HSN

Additional relevant MeSH terms:
Charcot-Marie-Tooth Disease
Nerve Compression Syndromes
Hereditary Sensory and Motor Neuropathy
Tooth 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
Stomatognathic Diseases
4-des-dimethylaminotetracycline
Matrix Metalloproteinase Inhibitors
Protease Inhibitors
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action
Pharmacologic Actions

ClinicalTrials.gov processed this record on August 28, 2014