RecruitingNCT00317616
Neuromuscular
VCP Disease
Also known as IBMPFD, inclusion body myopathy with Paget disease and frontotemporal dementia, VCP-related multisystem proteinopathy
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
ORPHA:329478 ↗Gene VCPPrevalence Less than 1 in 1,000,000Onset Adulthood (typically 4th–5th decade)Autosomal dominant
5
studies recruiting now
as of 7 Sept 2026
11
studies registered in total
as of 7 Sept 2026
3
countries with a recruiting site
as of 7 Sept 2026
7 May 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT03865420
Amyotrophic Lateral Sclerosis (ALS) Families Project
RecruitingNCT01353430
Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)
RecruitingNCT01793168
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
RecruitingPhase 2NCT06959732
Zanubrutinib Combined With G-CVP in Previously Untreated FL
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
Search all VCP Disease studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
Keep watching
Get an email when a new VCP Disease study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
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
Progressive proximal and distal muscle weakness with rimmed vacuoles on biopsyPaget disease of bone (bone pain, fractures, elevated alkaline phosphatase)Frontotemporal dementia or behavioural changeScapular wingingRespiratory muscle weakness in advanced muscle diseaseALS-like features in some patientsCardiomyopathy (less common)
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for VCP Disease. Not eligibility rules; those are set by each study.
- 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
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).