VCP disease

VCP disease is a genetic condition that can affect the muscles, bones, brain, and nerves. Muscle weakness (myopathy) is often the first symptom and tends to appear in mid-adulthood. Some patients develop a condition called Paget disease of bone, which can weaken or deform bones and cause bone pain. Patients may also develop early-onset frontotemporal dementia (FTD). Carriers of VCP mutation can also develop many other conditions such as ALS, Parkinson’s disease, Charcot-Marie Tooth disease and cataracts.

VCP disease is caused by DNA changes in a gene called VCP (Valosin Containing Protein). VCP plays a variety of important roles in cells, including helping break down abnormal or excess proteins. DNA changes in VCP can impair its ability to break down proteins, causing excess proteins to build up in muscle, bone and brain cells.

Currently, treatment is aimed at easing symptoms of the condition. Treatments exist for Paget disease of bone, if detected early. There are currently no targeted treatments for any of the other conditions.

The latest on our research

We are jumpstarting our VCP disease program in partnership with the Cure VCP Disease, Inc. to accelerate research for the condition. We welcome all patients and caregivers interested in participating and spreading the word to the VCP disease community.