of Hereditary Multiple Exostoses:
Phenotyping Project with MHE Coalition Collaborators
Additional participants: Jacqueline T. Hecht, PhD, Professor, Director, Genetic Counseling Program, Department of Pediatrics, Division of Medical Genetics, University of Texas Houston Medical Center;
Prof. V.M. Fazio, MD, Prof. M.A. Rosa, and Gianluca Falcone, MD, Italy. It is anticipated that other researchers will participate in this study in the future.
Purpose of Study: A pilot study done by Dr. Christine Alvarez showed that there exists a relationship between the genotype and phenotype in MHE; however, as the results represent a small sample of patients, a greater number are needed to increase the power of the study. “Our goal for this project is to investigate the causes of the wide variability of the expression of Hereditary Multiple Exostoses (HME). Previous work completed by our group shows that there exists a correlation between genotype and phenotype such that certain mutations or affected genes causes certain patterns of presentation, symptoms, and signs. We intend on achieving our goal by increasing our study sample size to build on the results generated by the pilot project of this study to obtain statistical significance.” “Phenotyping profiling in relation to the gene mutated (and the mutation characteristics) will be helpful in providing families with the anticipated course of the disease for its members and will aid in determining the prognosis.”
Request for MHE Coalition Participation: The investigators want to increase the study sample size to build on the results of their pilot study. By utilizing both the patient and research network created by The MHE Coalition, the researchers will have access to many more patients, thereby determining whether there truly is a genotype-phenotype correlation.
Why we feel this study is important: One of the puzzles of MHE is why some individuals are affected so severely, while others, even within the same family, are affected mildly, with minimum impact on daily life. This study will hopefully help to answer this and other questions about the nature of MHE, and may provide a tool for better management of the disease. Armed with the knowledge of potential problems, treatment strategies can be developed for each patient.
What you can do to help: The MHE Coalition will be going through its database and contacting families that have 3 or more generations of MHE, or families who have multiple members with MHE. Participation in this study will consist of providing a complete skeletal series of X-rays and blood sample for each family member. There will be no cost to study participants. As we do not have family histories for some of our members, if you do belong to a family with 3 or more generations of MHE, or a family that may not be able to trace MHE to 3 generations, but does have multiple-affected members, please contact Sarah Ziegler, National Director and Coordinator of Research, The MHE Coalition, at dinosarah@prodigy.net, Telephone: 718-747-1701, or cell phone: 917-841-2217. Sarah will answer any questions you might have about the research and about the possibility of you and your family participating.
