Working...
ClinicalTrials.gov
ClinicalTrials.gov Menu

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
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

Tracking Information
First Submitted Date November 29, 2016
First Posted Date December 1, 2016
Last Update Posted Date December 1, 2016
Study Start Date October 2016
Estimated Primary Completion Date December 2017   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: November 29, 2016)
  • CMT Infant Scale Part 1 [ Time Frame: 1 year ]
    The CMT Infant Scale physical assessment
  • The CMT Infant Scale Part 2 [ Time Frame: 1 year ]
    The CMT Infant Scale lower limb and gross motor items
  • The CMT Infant Scale Part 3 [ Time Frame: 1 year ]
    The CMT Infant Scale upper limb and fine motor items
Original Primary Outcome Measures Same as current
Change History No Changes Posted
Current Secondary Outcome Measures
 (submitted: November 29, 2016)
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.
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)
Official Title Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT
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).
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.
Study Type Observational
Study Design Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
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.
Condition Charcot-Marie-Tooth Disease
Intervention Other: No intervention involved
Study Groups/Cohorts
  • 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.
    Intervention: 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.
    Intervention: Other: No intervention involved
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Unknown status
Estimated Enrollment
 (submitted: November 29, 2016)
200
Original Estimated Enrollment Same as current
Study Completion Date Not Provided
Estimated Primary Completion Date December 2017   (Final data collection date for primary outcome measure)
Eligibility 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).
Sex/Gender
Sexes Eligible for Study: All
Ages up to 4 Years   (Child)
Accepts Healthy Volunteers Yes
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Australia,   Italy,   United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02979145
Other Study ID Numbers 6611
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Joshua Burns, Sydney Children's Hospitals Network
Study Sponsor Sydney Children's Hospitals Network
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
Investigators Not Provided
PRS Account Sydney Children's Hospitals Network
Verification Date November 2016