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.
Background
Information about how different forms of CMT affect children is not readily available because there are not good methods to measure impairment of children with CMT. The purpose of this project is to develop and test such a method and to then test this scale to ensure that it is an effective measurement of impairment of CMT in children, that the children tolerate it well, that different investigators using this method obtain similar results and that changes over time with the scale allow measurement of progression of CMT in the children.
The 3 research aims are:
- To develop and test a specific pediatric CMT Peds scale (CMTPedS) in children with CMT in order to refine the scoring for future natural history and therapeutic trials for different types of CMT. The evaluation is not invasive and involves activities such as running, jumping, balancing and puzzle activities. Currently the CMTPeds evaluation takes about a half hour.
- We propose to evaluate younger children (<3 yrs of age) with the Brief Assessment of Motor Function (BAMF) assessment.
- We propose to test the sensitivity of the CMT Peds Scale to detect any changes in impairment due to CMT by evaluating children by the score over a two-year period.
- To determine how relevant changes are that we measure in the CMTPeds scale to the children we wish to compare changes in the CMTPeds scale with an additional brief scale that assesses childhood quality of life (Children’s Quality of Life scale CHQ-PF50).
About this Study
This is a longitudinal study of 500 children (<21 yrs of age) with various forms of CMT, divided into CMT1, CMT2, and CMT4. Patients will be seen for a total of 4 times at six-month intervals. The evaluations will take place at one of the INC RDCRC sites that have specialized pediatric neurology expertise. Those include Wayne State University, the Children’s Hospital of Philadelphia (CHOP), the Dubowitz Neuromuscular Center (London) and The Children’s Hospital of Westmead (Australia). For each visit the child will be asked to complete either the BAMF or CMTPeds scale as well as the quality of life scale (with parent participation).
Targeted Enrollment
To be eligible to participate, you must be an individual with one of the following:
- Children (<21 years of age).
- Known or probable inherited neuropathies classified as CMT1, CMT2, or CMT4.
You are not eligible to participate if:
- Known diagnosis of acquired neuropathy including toxic (e. g. medication related
neuropathies); metabolic (e.g. diabetic), immune mediated or inflammatory
(AIDP or CIDP) polyneuropathies; neuropathy related to leukodystrophy,
congenital muscular dystrophy. - 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. - Asymptomatic children not previously diagnosed as having CMT1, CMT2, or
CMT4.
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 to the right to inquire about participation.