Evidence map›Paper›PMID 40294152›Full record

ArticleAnnals of clinical and translational neurology2025

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

Lindsay N Alfano, Megan A Iammarino, Natalie F Reash, Linda P Lowes, Lindsay Pietruszewski, Kathleen Adderley, Lauren Humphrey, Audrey B Knight, Christopher L Steiner, Melissa A Smith and 6 more

Abstract readValidation Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of clinical and translational neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Lindsay N AlfanoJerry R. Mendell Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.ORCID 0000-0002-2263-7569
Megan A IammarinoJerry R. Mendell Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Natalie F ReashJerry R. Mendell Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Linda P LowesJerry R. Mendell Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Lindsay PietruszewskiJerry R. Mendell Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Kathleen AdderleyJerry R. Mendell Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Lauren HumphreyJerry R. Mendell Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Audrey B KnightJerry R. Mendell Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Christopher L SteinerJerry R. Mendell Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Melissa A SmithJerry R. Mendell Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Zarife SahenkJerry R. Mendell Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Anne M ConnollyJerry R. Mendell Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Momen AlmomenJerry R. Mendell Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Eleonora S D'AmbrosioJerry R. Mendell Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Nathan PeckCure VCP Disease, Warner Robins, Georgia, USA.
Allison PeckCure VCP Disease, Warner Robins, Georgia, USA.

Funding

Cure VCP Disease Inc
6 · The paper itself

Abstract

objectiveValosin-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.

methodsPatients 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 complete based on participants' level of function and/or home environment were collected at each visit.

resultsForty-six total patients enrolled in our study, 34 in our full study and 12 in an expanded remote-only cohort. Functional COA measured decline over reported disease duration in this cross-sectional group and significantly correlated with PRO (rho > 0.5, p < 0.001). Differences in lower and upper extremity involvement were noted across variant groups. Performance of functional COA was reliable and safe within and across onsite and remote testing environments (ICC > 0.7, p < 0.001).

interpretationFunctional COA and PRO are valid and reliable to measure abilities in participants with MSP1. Testing can be completed reliably within the home, which could expand equitable access to clinical care and/or future clinical trial participation. Prospective longitudinal data collection is ongoing to understand outcome sensitivity and meaningful change over time.

Indexed as

Outcome Assessment, Health CarePatient Reported Outcome MeasuresValosin Containing ProteinAdultAgedFemaleHumansMaleMiddle AgedReproducibility of ResultsValosin Containing ProteinVCP protein, humanfunctionnatural historyVCP‐associated multisystem proteinopathy

Identifiers

PMID40294152
PMCPMC12257134

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.