Medical Student Research Fellowship for Summer 2009

Mentor: Susan T. Iannaccone, M.D.
Department: Child Neurology
Room number: F5074
Mail Code: 9063
Phone number: 214-456-4267
E-mail: Susan.iannaccone@utsouthwestern.edu
Project title: Charcot-Marie Tooth North American Network

Human subjects IRB approved project number (where applicable): n/a

Animal subjects IRB approved project number (where applicable): none

Project Type (patient-based research, animal-based research, or basic research; this characterization is only to permit a general classification for grouping similar types of projects)

Patient-based.

Brief Description of Project:

Charcot-Marie Tooth disease is one of the most common inherited neuromuscular diseases, affecting approximately 1 in 2500 people. There are no effective therapies available for any form of CMT, natural history data are available for only the most common types, and many potential genotype-phenotype correlations remain unknown. To address these issues, the CMT North American Database has been formed, housed in the Department of Human Genetics at the University of Indiana, and containing historical, clinical, and neurophysiological data on over 800 CMT patients. The Database has been used to identify medications that exacerbate CMT, recruit patients for the current ascorbic acid clinical trail of CMT1A, and enable studies of genotype-phenotype correlations. The current Database however, is limited by the quality of the clinical data: because a large number of physicians evaluated the patients, there are inconsistent neurological examinations and neurophysiology data. To address these concerns and improve its usefulness, there has been a proposal to alter the Database by having all patients evaluated at a national center - Wayne State University, University if Pennsylvania, the University of Washington (Seattle), Johns Hopkins University, The University of Texas Southwestern Medical Center of Dallas, and the University of Rochester (New York).

The purpose of the study is to gather information about individuals with different genetic mutations of though a variety of medical and family history questionnaires. The database aims to help researchers access large amounts of information about people with CMT. By using this database, researchers may better understand the progression of CMT and in this way find more helpful therapies.

Previous Research Activities or Publications with Medical Students:

2007 - Doris Duke fellow, Sarah Davis, UTSW 3rd year medical student. Wrote protocol, submitted to IRB, and conducted enrollment for QOL in Duchenne Muscular Dystrophy patients.

2004 - Doris Duke fellow, Erin Buethe, UTSW 2nd year summer medical student. Wrote PPRU protocol for SMA Rilutek study.