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Trial record 7 of 328 for:    CMT

Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)

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ClinicalTrials.gov Identifier: NCT02979145
Recruitment Status : Unknown
Verified November 2016 by Joshua Burns, Sydney Children's Hospitals Network.
Recruitment status was:  Recruiting
First Posted : December 1, 2016
Last Update Posted : December 1, 2016
Sponsor:
Collaborators:
University of Iowa
Children's Hospital of Philadelphia
University of Pennsylvania
University of Rochester
National Hospital of Neurology and Neurosurgery
Dubowitz Neuromuscular Centre
University of Miami
Carlo Besta Neurological Institute
Johns Hopkins University
Vanderbilt University
University of Washington
Nemours Children's Hospital
National Institutes of Health - Intramural Branch (Bethesda)
Stanford University
Cedars-Sinai Medical Center
Harvard/Massachusetts General Hospital
University of Michigan
University of Minnesota - Clinical and Translational Science Institute
University of Utah
University of Connecticut
Universiteit Antwerpen
Information provided by (Responsible Party):
Joshua Burns, Sydney Children's Hospitals Network

Brief Summary:
The purpose of this study is to develop and validate a clinical outcome measure to evaluate disability and disease progression of children 3 years of age and younger (infants and toddlers) with various types of Charcot-Marie-Tooth disease (CMT).

Condition or disease Intervention/treatment
Charcot-Marie-Tooth Disease Other: No intervention involved

Detailed Description:
Most forms of CMT begin in childhood and progress throughout a person's lifetime. Current research suggests that treatment to slow disease progression may be most effective if introduced early in a patient's life before muscle weakness and sensation loss develop, as it may be easier to slow disease progression than to reverse disability that is already in place. Clinical outcome measures have been developed for adults (CMT Neuropathy Score) and for children 3 years of age and older (CMT Pediatric Scale). However, no CMT-specific clinical outcome measure currently exists to measure disease severity or progression in children from birth to 3 years of age. It is the goal of this study to develop and validate the CMT Infant Scale (CMTInfS) to meet this need.

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Study Type : Observational
Estimated Enrollment : 200 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT
Study Start Date : October 2016
Estimated Primary Completion Date : December 2017


Group/Cohort Intervention/treatment
Patients with CMT
Two groups of patients will be included: Group 1 (Definitive): Children with known CMT where genetic testing confirms the diagnosis, or children with a clinical diagnosis including electrophysiology confirming the presence of CMT and a corresponding family history where a first or second degree relative has a genetic diagnosis; or Group 2 (At risk): A clinical diagnosis of CMT awaiting genetic testing or confirmatory electrophysiology and evidence of a genetic diagnosis in a first or second degree relative; or individuals identified as being at risk of a CMT diagnosis (prodromal patients), without the onset of signs or symptoms.
Other: No intervention involved
Controls
Healthy controls will be included from unaffected family members or friends accompanying patients at INC sites. Healthy controls are defined as boys and girls aged 0-≤4 years without a diagnosis of CMT or any of the other study exclusion criteria.
Other: No intervention involved



Primary Outcome Measures :
  1. CMT Infant Scale Part 1 [ Time Frame: 1 year ]
    The CMT Infant Scale physical assessment

  2. The CMT Infant Scale Part 2 [ Time Frame: 1 year ]
    The CMT Infant Scale lower limb and gross motor items

  3. The CMT Infant Scale Part 3 [ Time Frame: 1 year ]
    The CMT Infant Scale upper limb and fine motor items


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



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Ages Eligible for Study:   up to 4 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients who are 4 years of age and under who are also enrolled in the 6601 study and have performed all tasks to complete the CMTInfant 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 (patients with CMT):

  • Patient is ≤4 years of age
  • Parent(s) or guardians have agreed for the child to take part in the study and have signed an informed consent form.
  • Patient has known or probable inherited neuropathy
  • Patient participates in the INC Natural History Study (INC 6601)

Inclusion Criteria (controls):

  • Participant is ≤4 years of age
  • Parent(s) or guardians have agreed for the child to take part in the study and have signed an informed consent form.
  • Participant does NOT have an inherited neuropathy as determined by the investigator
  • Participant is an unaffected friend or family member of a patient with CMT (patient does not have to be included in the study)

Exclusion Criteria (patients with CMT):

  • Patient has a known condition of acquired neuropathy including toxic (e.g. medication related), metabolic (e.g. diabetic), immune mediated or inflammatory (AIDP or CIDP) neuropathies, a neuropathy related to leukodystrophy, or a congenital muscular dystrophy.
  • Patient has a severe general medical condition, as determined by the site Principal Investigator.
  • Patient has known normal nerve conductions of upper and lower limbs. This will be considered as exclusion criteria because it documents that the child does not have a large-fibre neuropathy. However, patients will not be required to have nerve conduction studies (NCS) or electromyography (EMG).

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): NCT02979145


Locations
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United States, Iowa
University of Iowa Health Care Recruiting
Iowa City, Iowa, United States, 52242
Contact: Shawna Feely, MS, CGC    319-353-8400    Shawna-Feely@uiowa.edu   
United States, Pennsylvania
Children's Hospital of Philadelphia Not yet recruiting
Philadelphia, Pennsylvania, United States, 19104-1771
Contact: Timothy Estilow, OT       ESTILOW@email.chop.edu   
Australia, New South Wales
The Children's Hospital at Westmead Recruiting
Sydney, New South Wales, Australia, 2145
Contact: Melissa Mandarakas, MPhty    +61 2 98451904    melissa.mandarakas@sydney.edu.au   
Italy
C. Besta Neurological Institute Recruiting
Milan, Italy, 20133
Contact: Isabella Moroni    +39-02 2394 3001    isabella.moroni@istituto-besta.it   
Sponsors and Collaborators
Sydney Children's Hospitals Network
University of Iowa
Children's Hospital of Philadelphia
University of Pennsylvania
University of Rochester
National Hospital of Neurology and Neurosurgery
Dubowitz Neuromuscular Centre
University of Miami
Carlo Besta Neurological Institute
Johns Hopkins University
Vanderbilt University
University of Washington
Nemours Children's Hospital
National Institutes of Health - Intramural Branch (Bethesda)
Stanford University
Cedars-Sinai Medical Center
Harvard/Massachusetts General Hospital
University of Michigan
University of Minnesota - Clinical and Translational Science Institute
University of Utah
University of Connecticut
Universiteit Antwerpen

Additional Information:
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Responsible Party: Joshua Burns, Professor of Allied Health (Paediatrics), Sydney Children's Hospitals Network
ClinicalTrials.gov Identifier: NCT02979145     History of Changes
Other Study ID Numbers: 6611
First Posted: December 1, 2016    Key Record Dates
Last Update Posted: December 1, 2016
Last Verified: November 2016

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