Characterization of familial myopathy and Paget disease of the bone

HS 2007-5832
Bone & Muscle, Paget disease of bone
Virginia Kimonis, MD
UCI Medical Center in Orange and the UCI Health Institute of Clinical and Translational Science in Irvine

Families that have a combination of muscle disease with Paget disease of bone have been studied in the laboratory and the gene that is responsible for the disease has been identified. It is called the VCP gene.

Studying families with muscle and bone disease and/or dementia will help in understanding why the changes in the VCP gene cause the muscle and bone problems. Participating in a research study may aid in early diagnosis, as well as monitoring of the disease progression and the possibility of treatment.

Subjects who are eligible to participate in this study must be an adult (over the age of 18) and have a personal or family history of muscle disease and/or bone disease and/or dementia.
The visit to UC Irvine may take approximately 2-4 hours. Participants have the option of participating remotely.
Subjects may not benefit directly from participation in this study. However, in the future, the information obtained from this study may help researchers understand the genetic causes of the disease. This may eventually lead to new forms of diagnosis and treatment in the future.
No Compensation is provided but there is no cost for the testing.
Basic Science
Virginia Kimonis