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

## TL;DR

This study uses a patient registry to track quality of life and disease progression in patients with VCP disease, a rare neuromuscular condition.

## Contribution

The study demonstrates the utility of the CoRDS registry for monitoring quality of life and capturing patient-reported outcomes in VCP disease.

## Key findings

- Participants showed significant declines in mobility and function over time, with the most notable decline in lower extremity function.
- Patient-reported outcomes were most strongly correlated with overall health, 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.

## Abstract

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.

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.

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.

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.

The online version contains supplementary material available at 10.1186/s13023-025-03567-w.