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

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, VC

SUBMITTER: Abdoalsadig E 

PROVIDER: S-EPMC11998231 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature