Cure VCP Disease, Inc.

Cycle 2
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VCP is a protein disorder that affects multiple body systems. It is also called multisystem proteinopathy (MSP1). This disease is a rare, adult-onset, neuromuscular disease caused by any one of several possible variants in a gene called Valosin Containing Protein (VCP or p97). Symptoms typically include one or more of the following: myopathy, early–onset Paget’s disease of bone, and premature frontotemporal dementia. Other possible co-morbidities are ALS, CMT, and Parkinson's disease.

Last updated May 2024

Clinical
Disease Class
Rare bone diseases
Rare genetic diseases
Rare neurological diseases
Rare neuromuscular diseases
Body Systems
Cardiovascular / Circulatory
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Respiratory
Organs
Bones
Brain
Heart
Lungs
Muscles
Nerves
Spinal cord
Genes
VCP
Type of Inheritance
Autosomal dominant
De novo
Disease Mechanism(s)
Abnormal protein degradation
Lysosomal defects
Mitochondrial dysfunction
Pathogenic mutation
Protein misfolding
Age of Onset
Adulthood (age 18-64)
Incidence
Less than 10
Prevalence
101-1000
Symptoms / Phenotypes
behavioral changes
bone deformations
bone pain
cramps
dementia
dysphagia
muscle weakness
myopathy
peripheral neuropathy
seizures / epilepsy
speech problems / apraxia
Biomarkers
None
Existing Therapies
Drugs approved for the symptoms
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
Myoblasts
Myotubes
Organoids
Primary human skeletal muscle cells
Cell Lines, location
Coriell Institute
Institute of Myology - University Hospitals Pitie Salpetriere
iXCells Biotechnologies
Cell Lines, share
Yes
Disease Model
Drosophila/fly
Mouse
Organoids
Yeast
Zebrafish
Disease Model, location
Jackson Laboratories (JAX)
Louisiana State University
National Center for Advancing Translational Sciences (NCATS)
Disease Model, share
Unknown
Clinical Trial Role
Not involved
Biobank
COMBINEDBrain
Institute of Myology - University Hospitals Pitie Salpetriere
iXCells Biotechnologies
Center of Excellence
None
Registry
Yes, we have a registry that we created
Data Collected, Registry
Longitudinal natural history data
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
CoRDS
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Genetic data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
AllStripes
CoRDS
REDCap
FDA Patient Listening Session
Yes
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
Yes, we have an ICD-11 code specific to our exact disease
Diagnostic Guidelines
Yes
Clinical/Treatment Guidelines
Yes
Organizational Roles
Research/Scientific Director
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Does not have a CRN
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
None