INFO: CMT and Deafness study

January 12, 2000

Active Neuromuscular Clinical Trials & Studies Selective Listing

DISEASE CLASSIFICATION(S):Charcot-Marie-Tooth (CMT) disease and Deafness

NAME OF CLINICAL TRIAL/STUDY:Identification of gene mutations in families

with Charcot-Marie-Tooth and deafnessPURPOSE: Charcot-Marie-Tooth (CMT) and

Deafness is an unusual inherited disorder. Individuals affected with CMT have

peripheral nerve damage that results in muscle weakness, loss of sensation

and deformation of the hands and feet. The association of CMT with hearing

loss is rare. We're involved in a clinical and molecular study that's

investigating the genetic cause of CMT associated with deafness. Our intent

is to use this information to gain a better understanding of how the disease

progresses and, hopefully, to apply this knowledge toward development of

effective therapies. In one large family, we've mapped this disease to human

chromosome 17 and have found a unique mutation in the PMP22 gene. PMP22 has

long been implicated as the gene responsible for CMT, and there have been

many previous reports of PMP22 mutations causing CMT. However, the role of

PMP22 in hearing loss remains unclear. In our family with CMT and deafness,

we've also noted a clinical phenomenon of increasing disease severity with

each successive generation that hasn't been explained by the mutation we

identified in PMP22. We'd like to enroll the participation of more families

in our study that have a similar clinical presentation.

OPENING/CLOSING DATES: November 1999, no known closing date.

TARGET NUMBER OF PARTICIPANTS: No set limit

RECRUITMENT STATUS: Active

ELIGIBILITY REQUIREMENTS: If your family has CMT and affected members also

have hearing loss, or if you have noticed that the disease appears to become

more severe and begins at a younger age in later generations and would be

interested in participating in our study, please contact our office.

CONTACT:

Virginia Kimonis, M.D.

SIU School of Medicine

P.O. Box 19658

Springfield IL 62794-9658

LOCATIONS/CONTACTS:

Southern Illinois University School of Medicine

Division of Genetics

Phone:

Fax:

E-mail: vkimonis@...

Contact person: Virginia Kimonis, M.D.

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