About VCP Disease
VCP Disease (also called Multisystem Proteinopathy or IBMPFD) is caused by heterozygous gain-of-function mutations in the VCP gene encoding valosin-containing protein, a ubiquitous AAA+ ATPase involved in protein homeostasis, autophagy, and DNA repair. It is a multisystem disorder that variably involves skeletal muscle (inclusion body myopathy with rimmed vacuoles), bone (Paget disease of bone), and brain (frontotemporal dementia). ALS-like motor neuron involvement occurs in a subset.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to VCP Disease trials.
Genetic confirmation of a pathogenic VCP variant is required; the most common hotspot mutations (R155H, R191Q, R155C) account for the majority of cases — targeted sequencing or gene panel is appropriate
Multisystem involvement should be documented across all three domains (muscle, bone, CNS) even if subclinical — bone scan and neuropsychological testing results may be required at screening
Trials targeting the VCP/proteasome pathway may have eligibility criteria excluding patients with advanced dementia; cognitive screening scores (MoCA, MMSE) should be obtained early
Patient Resources
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