Charcot-Marie-Tooth Disease
Conditions
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.
Interventions
Sponsors
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 (NIH)
Stanford University
Cedars-Sinai Medical Center
Harvard/Massachusetts General Hospital
University of Michigan
University of Minnesota
University of Utah
University of Connecticut
Universiteit Antwerpen
Sydney Children's Hospitals Network
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 4 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| CMT Infant Scale Part 1 | 1 year | The CMT Infant Scale physical assessment |
| The CMT Infant Scale Part 2 | 1 year | The CMT Infant Scale lower limb and gross motor items |
| The CMT Infant Scale Part 3 | 1 year | The CMT Infant Scale upper limb and fine motor items |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Evaluate CMT Infant Scale (CMTInfS) in CMT natural history study | 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. |
Countries
Australia, Italy, United States
Outcome results
None listed