Evidence map›Paper›PMID 39973404›Full record

ArticleJournal of neuromuscular diseases2025

Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy.

Ian C Smith, Marcos L Sampaio, Gerd Melkus, Kaitlynn Meier-Ross, Shaoni Chakraborty, Cameron Stotts, Pierre R Bourque, Hanns Lochmuller, Bernard Brais, Othmane Ayoub and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neuromuscular diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Polyalanine Expansion in PABPN1 Alters the Structure and Dynamics of Its Nuclear Aggregates in Differentiated Muscle Cells.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025
    Article
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

13 authors.

Ian C SmithOttawa Hospital Research Institute, Ottawa, Ontario, Canada.
Marcos L SampaioEric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario, Canada.
Gerd MelkusEric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario, Canada.
Kaitlynn Meier-RossFaculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.
Shaoni ChakrabortyFaculty of Science, University of Ottawa, Ottawa, Ontario, Canada.
Cameron StottsDepartment of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, Ontario Canada.
Pierre R BourqueEric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario, Canada.
Hanns LochmullerOttawa Hospital Research Institute, Ottawa, Ontario, Canada.
Bernard BraisMontreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
Othmane AyoubSchool of Electrical Engineering and Computer Science, Faculty of Engineering, University of Ottawa, Ottawa Ontario, Canada.
Theodore J PerkinsOttawa Hospital Research Institute, Ottawa, Ontario, Canada.
Mireille KhachoEric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario, Canada.
Jodi Warman-ChardonOttawa Hospital Research Institute, Ottawa, Ontario, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundOculopharyngeal muscular dystrophy (OPMD) is a rare, late-onset, slowly progressive neuromuscular disorder characterized by ptosis, dysphagia, and proximal limb weakness. Emerging clinical trials require rapidly accessible and sensitive biomarkers to evaluate OPMD disease progression and potential response to future treatments.

objectiveThis cross-sectional study was designed to identify candidate circulating protein and imaging biomarkers of OPMD severity for future use in clinical trials.

methodsTwenty-five individuals with OPMD (age 63.3 ± 10.5 years; GCN copy number of 13 in

resultsEighteen plasma proteins distinguished OPMD on both indicators of severity. Pathway analyses identified skeletal muscle tissue, phagocytosis/engulfment, and extracellular matrix organization as enriched ontology clusters in OPMD with limb weakness. The most distinguishing plasma protein signals (ACTN2, MYOM2, CA3, APOBEC2, MYL3, and PDLIM3) were over 200% higher in OPMD with limb weakness than OPMD without limb weakness as well as controls, and correlated strongly with percent of fatty replacement of soleus (

conclusionsThe candidate biomarkers identified contribute to the ongoing search for sensitive and accessible biomarkers of OPMD progression, prognosis, and monitoring.

Indexed as

Blood ProteinsMuscular Dystrophy, OculopharyngealAgedBiomarkersCross-Sectional StudiesFemaleHumansMagnetic Resonance ImagingMaleMiddle AgedMuscle, SkeletalSeverity of Illness IndexBiomarkersBlood Proteinsaccelerated agingbiomarker discoverymuscle MRImuscular dystrophyproteomicsskeletal muscle

Identifiers

PMID39973404
PMCPMC13142862

What Socratic holds

Textmetadata
LicenceCC BY-NC
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Registered trials

None linked

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 Socratic graph.