Study Summary
Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.
The purpose of this study is to create and validate a clinical outcome measure (a tool for physicians and researchers) to track how disability and disease changes over time in infants and toddlers with different types of Charcot-Marie-Tooth disease (CMT).
For Diseases:
- Charcot-Marie-Tooth disease (CMT)
Background
Most forms of CMT begin in childhood and progress throughout a person’s lifetime.1 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.2 Clinical outcome assessments have been developed for adults (CMT Neuropathy Score)3 and for children 3 years of age and older (CMT Pediatric Scale).4 However, no CMT-specific clinical outcome assessment 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 to meet this need.
The research questions are:
- Is the CMT Infant Scale a reliable and valid clinical outcome assessment of disease severity in children aged 0-4 years?
- Is the CMT Infant Scale a sensitive and responsive outcome assessment of disease progression over time?
About this Study
This is an observational study of 100 infants with CMT to validate a new outcome assessment of disability, the CMT Infant Scale, for infants aged 0-4 years. One hundred infants without CMT will also participate to help validate the outcome measure. Those participating in this study will be evaluated two times over the course of a year. For infants without CMT, only one assessment is needed. These visits may be done at the same time as regular clinic visits/checkups when possible at a participating site (see list below).
The following will occur during each visit:
- The child will have a physical examination with the CMT Infant Scale where gross motor skills (for example, rolling, sitting, walking and jumping) and fine motor skills (for example, block building, drawing and buttoning) are assessed.
- Parents will be asked questions about their infant’s development of milestones and medical history.
We may also look at your medical records from your local doctor’s office so that we can collect information about your medical history.
Targeted Enrollment
Children with and without an inherited neuropathy may be eligible for this study.
A child who has been diagnosed with a known inherited neuropathy or probable inherited neuropathy (no normal nerve conductions of upper and lower limbs) may be eligible to participate in this study if:
- The child is 4 years of age or younger
- The child is also enrolled in the INC Natural History Study (INC 6601)
A child who has not been diagnosed with an inherited neuropathy may be eligible to participate in this study if:
- The child is 4 years of age or younger
- The child is a friend or family member of a patient with CMT. (Note: The patient does not have to participate in the study.)
A child will not be eligible to participate if he/she 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
- A severe general medical condition (determined by the site Principal Investigator)
How to participate
In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.
References
- Fridman V, Bundy B, Reilly MM, et al. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. J Neurol Neurosurg Psychiatry. 2015;86:873-878.
- Burns J, Ryan MM, Ouvrier RA. Evolution of foot and ankle manifestations in children with CMT1A. Muscle & Nerve. 2009;39:158-166.
- Shy ME, Blake J, Krajewski K, et al. Reliability and validity of the CMT Neuropathy Score as a measure of disability. Neurology. 2005;64:1209-1214.
- Burns J, Ouvrier R, Estilow T, et al. Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability. Annals of Neurology. 2012;71:642-652.