CMT Children's Research Study

[Guest guest]

The Inherited Neuropathies Consortium (INC) is pleased to let you know the -

Children's Hospital of Philadelphia, Philadelphia, Pennsylvania - is now

enrolling patients for our study

Study Name: 6603 - Development of CMTPeds Scale for children with CMT

About thi study ~

This update also provides information such as a study summary, eligibility

criteria, and a list of participating center locations. If you are interested in

participating in this study or you have more questions, please contact the

center nearest to you.

This study may become available at additional clinical centers in the coming

months.

Study Name: 6603 - Development of CMTPeds Scale for children with CMT

Study Status: Recruiting

Summary:

Please Note: The Rare Diseases Clinica 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 an

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 b 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 below t inquire about participation.

Children's Hospital of Philadelphia (INC)

Philadelphia, Pennsylvania

Principal Investigator: Finkel, MD

Contact Person: Mahasweta Dutt

Office: 267-426-7308

Email: DuttM@...

The Children's Hospital at Westmead (INC)

Principal Investigator: Burns

Contact Person: Gabrael

Office: +61 2 9845 1904

Email: natalig1@...

University of Rochester (INC)

Rochester, New York

Principal Investigator: Herrmann, MBBCh

Contac Person: Janet Sowden

Office: 585-275-1267

Email: janet_sowden@...

Wayne State University, Detroit (INC)

Detroit, MI 48201, Michigan

Principal Investigator: Shy, MD

Contact Person: Rowe, BS

Office: 313-577-1689

Email: lrowe@...