Validity and Reliability of Clinical and Patient-Reported Outcomes in Multisystem Proteinopathy 1.

ABSTRACT:

Objective

Valosin-containing protein (VCP)-associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others. Our study aimed to validate functional clinical outcome assessments (COA) and patient-reported outcomes (PRO) to inform clinical care practices and future clinical trial design. In addition, we evaluated the test-retest reliability of these COAs within clinics and remote environments.

Methods

Patients completed a battery of COA and PRO across a 2-day traditional onsite visit and a 2-day remote visit within their home environment. All COA and PRO deemed safe and feasible to

SUBMITTER: Alfano LN 

PROVIDER: S-EPMC12257134 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature