Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy

Eiman Abdoalsadig; Merwa Hamid; Allison Peck; Leepakshi Johar; Virginia Kimonis

doi:10.1186/s13023-025-03567-w

Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy

Orphanet J Rare Dis. 2025 Apr 15;20(1):178. doi: 10.1186/s13023-025-03567-w.

Authors

Eiman Abdoalsadig^#^{1

2}, Merwa Hamid^#¹, Allison Peck^#³, Leepakshi Johar^{1

4}, Virginia Kimonis^{5

6

7}

Affiliations

¹ Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California Irvine, Lab and FEDEX: Hewitt Hall, Rm 2038, Health Sciences Rd., Irvine, CA, 92697, USA.
² Yale School of Public Health, New Haven, CT, USA.
³ Cure VCP Disease, Inc., Warner Robins, GA, USA.
⁴ College of Osteopathic Medicine of the Pacific, Western University of Health Sciences, Pomona, CA, USA.
⁵ Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California Irvine, Lab and FEDEX: Hewitt Hall, Rm 2038, Health Sciences Rd., Irvine, CA, 92697, USA. vkimonis@hs.uci.edu.
⁶ Department of Neurology, University of California Irvine Medical Center, Orange, CA, USA. vkimonis@hs.uci.edu.
⁷ Department of Pathology, University of California Irvine Medical Center, Orange, CA, USA. vkimonis@hs.uci.edu.

^# Contributed equally.

Abstract

Background: VCP disease, also known as multisystem proteinopathy, is a rare, autosomal dominant, adult-onset, neuromuscular disease that is caused by variants in the valosin-containing protein (VCP) gene. VCP disease may exhibit one or more of the following primary features: inclusion body myopathy, Paget's disease of bone (PDB), Frontotemporal dementia, and amyotrophic lateral sclerosis. Due to its progressive nature, death normally occurs in their sixties due to respiratory and cardiac failure. The purpose of this study is to utilize the Cure VCP Disease patient registry hosted by the Coordination of Rare Diseases at Sanford (CoRDS) to conduct a prospective natural history study.

Methods: Seventy-nine participants enrolled in the patient registry and answered demographic, VCP variant type, Patient-reported outcome measures (PROMs), and quality of life (QOL) questionnaires over the course of 3 years. We additionally investigated if any sex differences existed and if genotype-phenotype correlations affected the rate of progression of the varying clinical manifestations.

Results: Overall, participants' mobility declined significantly as the disease progressed. Participants reported a 0.6% decline in upper extremity function, 1.2% decline in lower extremity function, and 0.3% decline in cognitive function per year of age. Furthermore, participants reported a 1.6% decline in upper and lower extremity function and a 0.1% decline in cognitive function per year of disease duration. The highest PROMs correlations were noted between overall health and lower extremity function, upper extremity function, fatigue, and the ability to perform vigorous activities. Genotype-phenotype correlations revealed no significant differences except for the absence of PDB in the p.Arg159Cys group.

Conclusion: The VCP CoRDS Registry was found to be a valuable tool for monitoring the QOL in patients with VCP disease and capturing patient perspectives for future clinical trials.

Keywords: Amyotrophic lateral sclerosis (ALS); Frontotemporal dementia (IBMPFD); Inclusion body myopathy; Multisystem proteinopathy; Paget’s disease of bone; Patient-reported outcome measures (PROMs); Quality of life (QOL); VCP.

MeSH terms

Adult
Aged
Amyotrophic Lateral Sclerosis / genetics
Female
Frontotemporal Dementia / genetics
Humans
Male
Middle Aged
Myositis, Inclusion Body / genetics
Osteitis Deformans / genetics
Quality of Life*
Registries
Valosin Containing Protein* / genetics
Valosin Containing Protein* / metabolism

Substances

Valosin Containing Protein
VCP protein, human