Utilization of CoRDS Registry to Monitor Quality of Life in Patients with VCP Multisystem Proteinopathy

Abstract

AbstractBackgroundVCP disease, also known as multisystem proteinopathy (MSP1), 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 (IBM), Paget’s disease of bone (PDB), Frontotemporal Dementia (IBMPFD), and Amyotrophic Lateral Sclerosis (ALS). 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.MethodsSeventy-nine participants enrolled in the patient registry and answered demographic,VCPvariant type, Patient-Reported Outcome Measures (PROMs), and Quality of Life (QOL) questionnaires over the course of three years. We additionally investigated if any sex differences existed and if genotype-phenotype correlations affected the rate of progression of the varying clinical manifestations.ResultsOverall, 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 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 absense of PDB in thep.Arg159Cysgroup.ConclusionThe 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.