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

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2014 by University of Iowa
Sponsor:
Collaborators:
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
University of Pennsylvania
The Children's Hospital at Westmead
Nemours Children's Clinic
University of Michigan
Information provided by (Responsible Party):
Michael Shy, University of Iowa
ClinicalTrials.gov Identifier:
NCT01203085
First received: August 9, 2010
Last updated: March 25, 2014
Last verified: March 2014
  Purpose

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
Charcot Marie Tooth Disease

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth

Resource links provided by NLM:


Further study details as provided by University of Iowa:

Primary Outcome Measures:
  • CMT Peds Scale Part 1: Symptoms [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    The CMT Peds Scale Symptoms include foot and hand symptoms.

  • CMT Peds Score Part 2: Foot and Ankle Involvement [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    Foot and ankle involvement includes foot posture index, range of ankle dorsiflexion, foot drop present/absent, and whether or not difficulty heel/toe walking.

  • CMT Peds Scale Part 3: Hand dexterity [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    Hand dexterity involves hand dexterity testing and the nine-hole peg test.

  • CMT Peds Scale Part 4: Hand strength [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    Hand strength includes grip strength, thumb-index pinch, and three point pinch.

  • CMT Peds Scale Part 5: Foot Strength [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    Foot strength includes the strength of plantar- and dorsi-flexion, eversion, and inversion.

  • CMT Peds Score Part 6: Sensation [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    Sensation includes pinprick and vibration sensations.

  • CMT Peds Scale Part 7: Balance [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    Balance is assessed by the Bruininks-Oseretsky Test of Motor Proficiency, 2nd Edition (BOT-2).

  • CMT Peds Scale Part 8: Motor Function [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    Motor function assessment includes long jump, 10 meter run/walk, stair climb, stair descend, and 6 minute walk test.


Secondary Outcome Measures:
  • Evaluate CMT Pediatric Scale (CMT Peds Scale) in CMT natural history study [ Time Frame: 6 months to 1 year ] [ Designated as safety issue: No ]
    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.


Estimated Enrollment: 500
Study Start Date: April 2010
Estimated Primary Completion Date: December 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts
Pediatric patients
All patients 21 years of age and under who are enrolled in the 6601 study and have undergone the pediatric scale tests.

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.

  Eligibility

Ages Eligible for Study:   up to 21 Years
Genders Eligible for Study:   Both
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.

Criteria

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.
  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: NCT01203085

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

Locations
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: 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         
University of Pennsylvania Recruiting
Philadelphia, Pennsylvania, United States
Contact: Meredith Gage    215-349-5313    mgage@law.upenn.edu   
Principal Investigator: Steven Scherer, MD, PhD         
Australia, New South Wales
Children's Hospital 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. 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: Jacky Molyneaux    +44 207 380 6852    j.molyneaux@ion.ucl.ac.uk   
Principal Investigator: Mary Reilly, MD         
Sponsors and Collaborators
University of Iowa
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
University of Pennsylvania
The Children's Hospital at Westmead
Nemours Children's Clinic
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: NCT01203085     History of Changes
Other Study ID Numbers: INC-6603, 1U54NS065712-01
Study First Received: August 9, 2010
Last Updated: March 25, 2014
Health Authority: Australia: Human Research Ethics Committee
United Kingdom: Research Ethics Committee
United States: Institutional Review Board
Italy: Ethics Committee

Additional relevant MeSH terms:
Charcot-Marie-Tooth Disease
Nerve Compression Syndromes
Tooth Diseases
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Peripheral Nervous System Diseases
Neuromuscular Diseases
Genetic Diseases, Inborn
Stomatognathic Diseases
Hereditary Sensory and Motor Neuropathy
Nervous System Malformations
Polyneuropathies
Congenital Abnormalities

ClinicalTrials.gov processed this record on August 27, 2014