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Overview of Protein Metabolism01:21

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Updated: May 9, 2025

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

Lindsay N Alfano1,2, Megan A Iammarino1, Natalie F Reash1

  • 1Jerry R. Mendell Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.

Annals of Clinical and Translational Neurology
|April 28, 2025
PubMed
Summary

Functional clinical outcome assessments and patient-reported outcomes are reliable for measuring abilities in individuals with Valosin-containing protein (VCP)-associated multisystem proteinopathy 1 (MSP1). Home-based testing enhances access to care and clinical trials.

Keywords:
VCP‐associated multisystem proteinopathyfunctionnatural history

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Area of Science:

  • Neurology
  • Genetics
  • Clinical Research

Background:

  • Valosin-containing protein (VCP)-associated multisystem proteinopathy 1 (MSP1) is a genetic disorder caused by VCP gene variants.
  • MSP1 presents with diverse phenotypes including myopathy, Paget's disease of bone, frontotemporal dementia, ALS, and parkinsonism.

Purpose of the Study:

  • To validate functional clinical outcome assessments (COA) and patient-reported outcomes (PRO) for MSP1.
  • To assess the test-retest reliability of COAs in both clinical and remote settings.
  • To inform clinical care practices and future clinical trial design for MSP1.

Main Methods:

  • Patients with MSP1 completed COAs and PROs during a 2-day onsite visit and a 2-day remote visit.
  • Assessments were selected based on safety, feasibility, and participant function.
  • Data were collected from 46 patients, including a remote-only cohort.

Main Results:

  • Functional COAs significantly correlated with PROs (rho > 0.5, p < 0.001), reflecting disease duration.
  • COA performance demonstrated high reliability and safety across onsite and remote environments (ICC > 0.7, p < 0.001).
  • Variations in limb involvement were observed among different genetic variant groups.

Conclusions:

  • Functional COAs and PROs are valid and reliable tools for assessing individuals with MSP1.
  • Remote testing facilitates equitable access to clinical care and research participation.
  • Ongoing longitudinal data collection will determine outcome sensitivity and meaningful change over time.