New RDCRN CMT Children's Study

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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.

Patients will not be paid for taking part in this study.

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 investigator 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 a 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 on 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 to inquire about participation.

C. Besta Neurological Institute (INC)

Principal Investigator: e Pareyson

Contact Person: Chiara Marchesi

Office: +39-02 2394 3001

Email: chiara.marchesi@...

Children's Hospital of Philadelphia (INC)

Philadelphia, Pennsylvania

Principal Investigator: Finkel, MD

Contact Person: Mahaswet Dutt

Office: 267-426-7308

Email: DuttM@...

National Hospital for Neurology and Neurosurgery, London (INC)

London United Kingdom

Principal Investigator: Reilly, MD

Contact Person: Matilde

Office: +448451555000 ext 3024

Email: m.laura@...

The Children's Hospital at Westmead (INC)

Principal Investigator: Burns

Contact Person: Gabrael

Office: +61 2 9845 1904

Email: natalig1@...

University of Rocheste (INC)

Rochester, New York

Principal Investigator: Herrmann, MBBCh

Contact 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@...

About the Inherited Neuropathies Consortium

Th Inherited Neuropathies Consortium (INC) is an integrated group of academic

medical centers, patient support organizations, and clinical research resources

dedicated to conducting clinical research in different forms of CMT and

improving the care of patients.

Learn More

The Inherited Neuropathies Consortium (INC) is part of the National Institutes

of Health's Rare Diseases Clinical Research Network. For more information,

visit: < href= " http://www.RareDiseasesNetwork.org "

target=_blank>www.RareDiseasesNetwork.org

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.

Participation in research studies is voluntary. Deciding not to participate in a

research study does not affect your ability to receive care at any of our

Clinical Centers or from other physicians.

www.RareDiseasesNetwork.org

The Rare Diseases Clinical Research Network (RDCRN) was established by the

National Institutes of Health (NIH) to develop research studies for rare

diseases, and to encourage cooperative partnerships among researchers at over 15

clinical centers around the world. This increased cooperation may lead to

discoveries that will help treat and perhaps prevent these rare diseases, as

well as produce medical advances that will benefit the population in general.

The Rare Diseases Clinical Research Network is comprised of a Data Management

Coordinating Center and 19 consortia studying over 100 rare diseases.