Research Study for CMT 1B, 2A, 4A and 4C

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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: 6601 - A Natural History Study of CMT1B, CMT2A, CMT4A and CMT4C

About this 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 Status: Recruiting

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

Charcot Marie Tooth disease (CMT) is an umbrella term that covers any inherited

peripheral neuropathy. People with CMT have a problem with the nerves that go to

the feet and hands that cause muscle and sensation loss, as well as difficulty

with balance. There are at least forty genes that, when mutated, cause CMT. The

purpose of this study is to look at the natural history of CMT to see how it

changes over time. Particular emphasis will be put on studying people with

CMT1B, CMT2A, CMT4A, and CMT4C, though all people with CMT are encouraged to

participate. Participants are invited back on a yearly basis to determine how

the changes ar occurring.

About this Study

This is a longitudinal study of individuals with CMT. Those participating in

this study will be invited to be re-evaluated every year. There is no cap on

the number of participants who can enroll - all people who meet the inclusion

criteria are encouraged to participate.

There are many parts to a clinic visit for this study. At the first visit, you

will be assessed for eligibility, be provided informed consent, have minimal

demographics taken, and a treatment history.

At each visit, we will also assess your medications and take a medical history.

You will be asked to:

Have a neurological examination

Have nerve conduction studies performed

Take a questionnaire regarding your feelings about your health

Targeted Enrollment

To be eligible to participate, yo must:

Have Charcot Marie Tooth disease (CMT)

You are not eligible to participate if:

You have a peripheral neuropathy caused by a different source (i.e. alcohol,

chemotherapy, diabetes, etc.)

The site investigator does not think it is appropriate for you to participate.

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.

Children's Hospital of Philadelphi (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 Pennsylvania (INC)

Philadelphia , Pennsylvania

Principal Investigator: Scherer, MD, PhD

Contact Person: Meryl Candor

Office: 215-349-5313

Email: < href='mailto:Meryl.Candor@...'>Meryl.Candor@...

University of Rochester (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@...