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Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT (INC-6603)

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ClinicalTrials.gov Identifier: NCT01203085
Recruitment Status : Recruiting
First Posted : September 16, 2010
Last Update Posted : August 18, 2021
National Institute of Neurological Disorders and Stroke (NINDS)
Muscular Dystrophy Association
University of Rochester
Children's Hospital of Philadelphia
University College London Hospitals
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Sydney Children's Hospitals Network
Nemours Children's Clinic
Information provided by (Responsible Party):
Michael Shy, University of Iowa

Brief Summary:
The primary goal of this project is to develop and test a Charcot Marie Tooth disease (CMT) Pediatric Scale for use in evaluation in natural history CMT study.

Condition or disease
Charcot Marie Tooth Disease

Detailed Description:
This project is to develop a new CMT Pediatric Scale (CMTPeds) for Children with CMT. Although there is a validated score (the CMTNS) which measures disease severity for CMT, it is not always applicable to children due to their limited ability to relay information about their symptoms. The CMTPeds scale is being developed and validated in order to measure disease severity in children and have outcome measures available for future clinical trials. Children (defined as 21 and under) being evaluated will be asked to perform functional tasks such as using stairs, walking in a hallway, and performing hand function tests. This information will be used to validate the CMTPeds score. It is important to have validated instruments to measure disease severity in childhood so these can be used with clinical treatment trials are available.

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Study Type : Observational
Estimated Enrollment : 500 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth
Actual Study Start Date : April 2010
Estimated Primary Completion Date : December 2022
Estimated Study Completion Date : December 2022

Pediatric patients
All patients 21 years of age and under who are enrolled in the 6601 study and have undergone the pediatric scale tests.

Primary Outcome Measures :
  1. CMT Peds Scale Part 1: Symptoms [ Time Frame: 1 year ]
    The CMT Peds Scale Symptoms include foot and hand symptoms.

  2. CMT Peds Score Part 2: Foot and Ankle Involvement [ Time Frame: 1 year ]
    Foot and ankle involvement includes foot posture index, range of ankle dorsiflexion, foot drop present/absent, and whether or not difficulty heel/toe walking.

  3. CMT Peds Scale Part 3: Hand dexterity [ Time Frame: 1 year ]
    Hand dexterity involves hand dexterity testing and the nine-hole peg test.

  4. CMT Peds Scale Part 4: Hand strength [ Time Frame: 1 year ]
    Hand strength includes grip strength, thumb-index pinch, and three point pinch.

  5. CMT Peds Scale Part 5: Foot Strength [ Time Frame: 1 year ]
    Foot strength includes the strength of plantar- and dorsi-flexion, eversion, and inversion.

  6. CMT Peds Score Part 6: Sensation [ Time Frame: 1 year ]
    Sensation includes pinprick and vibration sensations.

  7. CMT Peds Scale Part 7: Balance [ Time Frame: 1 year ]
    Balance is assessed by the Bruininks-Oseretsky Test of Motor Proficiency, 2nd Edition (BOT-2).

  8. CMT Peds Scale Part 8: Motor Function [ Time Frame: 1 year ]
    Motor function assessment includes long jump, 10 meter run/walk, stair climb, stair descend, and 6 minute walk test.

Secondary Outcome Measures :
  1. Evaluate CMT Pediatric Scale (CMT Peds Scale) in CMT natural history study [ Time Frame: 6 months to 1 year ]
    The sections of the CMT Peds Scale which are found to be clinically/functionally useful after one year of analysis will be carried forward for all pediatric patients every 6 months to one year.

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Ages Eligible for Study:   up to 21 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients who are 21 years of age and under who are also enrolled in the 6601 study and have performed all tasks to complete the CMT Peds Scale will be recruited for participation. Participation entails allow the information collected in the 6601 study be used for validation in the current study.

Inclusion Criteria:

All patients MUST be seen in person at one of the participating centers for enrollment in this study.

  • Children (< 21 years of age)
  • Known or probable inherited neuropathies classified as CMT1, CMT2, or CMT4

Exclusion Criteria:

  • Known diagnoses of acquired neuropathy including toxic (e. g. medication related neuropathies); metabolic (e.g. diabetic), immune mediated or inflammatory [acute inflammatory demyelinating polyradiculoneuropathy (AIDP) or chronic inflammatory demyelinating polyneuropathy (CIDP)] polyneuropathies; neuropathy related to leukodystrophy, congenital muscular dystrophy; and patients with severe general medical conditions.
  • Entirely normal conduction velocities of upper and lower limbs as this suggests that the subject may not have a neuropathy.

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): NCT01203085

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

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United States, California
Stanford University Recruiting
Palo Alto, California, United States, 94305
Contact: Carly Siskind, MS, LCGC    650-721-5588    csiskind@stanfordmed.org   
Principal Investigator: John Day, 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         
United States, Florida
Nemours Children's Clinic Recruiting
Orlando, Florida, United States, 32827
Contact: Laura Sissons-Ross, MA    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 M Feely, MS    319-384-6362    Shawna-Feely@uiowa.edu   
Principal Investigator: Michael E Shy, 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, MS, CGC         
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         
Australia, New South Wales
Children's Hospital 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         
C. Fondazione IRCCS Istituto Neurologico Carlo Besta Recruiting
Milan, Italy
Contact: Davide Pareyson, MD    (+39)02-23943001    davide.pareyson@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, UK, United Kingdom
Contact: Hinal Patel    44 02079052608    hinal.patel@ucl.ac.uk   
Principal Investigator: Francesco Muntoni, MD         
Sponsors and Collaborators
University of Iowa
National Institute of Neurological Disorders and Stroke (NINDS)
Muscular Dystrophy Association
University of Rochester
Children's Hospital of Philadelphia
University College London Hospitals
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Sydney Children's Hospitals Network
Nemours Children's Clinic
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Principal Investigator: Michael E Shy, MD University of Iowa
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Responsible Party: Michael Shy, Professor, University of Iowa
ClinicalTrials.gov Identifier: NCT01203085    
Other Study ID Numbers: INC-6603
1U54NS065712-01 ( U.S. NIH Grant/Contract )
First Posted: September 16, 2010    Key Record Dates
Last Update Posted: August 18, 2021
Last Verified: August 2021
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/projects/gap/cgi-bin/study.cgi?study_id=phs001553.v1.p1
Additional relevant MeSH terms:
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Tooth Diseases
Charcot-Marie-Tooth Disease
Nerve Compression Syndromes
Hereditary Sensory and Motor Neuropathy
Stomatognathic Diseases
Nervous System Malformations
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Peripheral Nervous System Diseases
Neuromuscular Diseases
Congenital Abnormalities
Genetic Diseases, Inborn