We are a patient advocacy organization driving efforts to find a cure for diseases caused by a mutation of the VCP gene including IBMPFD and ALS. We encourage patients and doctors to connect with us. We are committed to collaborating on research and advocacy initiatives and helping patients and their families.
What is VCP Disease?
VCP Disease is a rare genetic disease, which can affect a patient's muscles, bones and brain. The exact number of patients currently diagnosed with this disease is unknown worldwide. Leading researchers believe there is a significant number of patients with the VCP mutation being misdiagnosed as Limb-girtle muscular dystrophy, myositis or myopathy.
VCP Disease is caused by a mutation in a gene called Valosin Containing Protein (VCP or p97). The VCP gene provides instructions for producing the VCP enzyme. The VCP enzyme is involved in a wide variety of important cellular activities such as cell division and mitochondrial function. One of VCP's most critical jobs is to help break down proteins that are abnormal or no longer needed. When the VCP gene is mutated, these cellular functions are disrupted leading to several possible symptoms and disorders.
VCP Disease primarily manifests as IBMPFD, which identifies the three primary disorders originally associated with the disease: Inclusion Body Myopathy, Paget's Disease of Bone, and Frontotemporal Dementia. A person with IBMPFD may have one, two, or all of these disorders. There are no known cures or treatments for myopathy or dementia, but there is an approved treatment for Paget's disease of bone. Early testing is very important.
A genetic connection has now been established between IBMPFD and more common disorders such as Amyotrophic lateral sclerosis (ALS) and Parkinson's Disease. Learning more about IBMPFD may not only help advance the treatment of IBMPFD but also several disorders.