Evidence mapPaperPMID 41544176Full record

ArticleJournal of neuromuscular diseases2026

Large-scale proteomics profiling of peripheral blood of DM1 patients identifies biomarkers for disease severity and functional capacity.

Daniël van As, Tine Claeys, Renee Salz, Delphi Van Haver, Sara Dufour, Amber van Deelen, Jolein Gloerich, Ralf Gabriels, Pieter Jan Volders, Vera Dobelmann and 15 more

Abstract read
In one paragraph

Article in Journal of neuromuscular diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

25 authors.

Daniël van AsDepartment of Medical BioSciences, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0002-4702-1330
Tine ClaeysVIB-UGent Center for Medical Biotechnology, VIB, Ghent, Belgium.
Renee SalzDepartment of Medical BioSciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Delphi Van HaverVIB-UGent Center for Medical Biotechnology, VIB, Ghent, Belgium.
Sara DufourVIB-UGent Center for Medical Biotechnology, VIB, Ghent, Belgium.
Amber van DeelenTranslational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Jolein GloerichTranslational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Ralf GabrielsVIB-UGent Center for Medical Biotechnology, VIB, Ghent, Belgium.
Pieter Jan VoldersLimburg Clinical Research Center (LCRC), UHasselt, Diepenbeek, Belgium.
Vera DobelmannDepartment of Neurology, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Andrea GangfussDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, University Duisburg-Essen, Essen, Germany.
Tobias RuckDepartment of Neurology, Ruhr University Bochum, BG University Hospital Bergmannsheil, Bochum, Germany.
Genevieve GourdonSorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris, France.
Elise DuchesneInterdisciplinary Research Group on Neuromuscular Diseases (GRIMN), Integrated University Health and Social Services Centre of Saguenay-Lac-Saint-Jean, Saguenay, QC, Canada.
Cynthia GagnonInterdisciplinary Research Group on Neuromuscular Diseases (GRIMN), Integrated University Health and Social Services Centre of Saguenay-Lac-Saint-Jean, Saguenay, QC, Canada.
Andreas RoosDepartment of Neurology, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Alain van GoolTranslational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Francis ImpensVIB-UGent Center for Medical Biotechnology, VIB, Ghent, Belgium.
Lennart MartensVIB-UGent Center for Medical Biotechnology, VIB, Ghent, Belgium.
Hanns LochmüllerChildren's Hospital of Eastern Ontario Research Institute; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.
Benedikt SchoserFriedrich-Baur-Institute, Dep. of Neurology LMU Clinic, Munich, Germany.
Guillaume BassezNeuromuscular Reference Centre, Pitiè-Salpêtrière Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.
Baziel Gm van EngelenDepartment of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Peter Ac 't HoenDepartment of Medical BioSciences, Radboud University Medical Center, Nijmegen, The Netherlands.
OPTIMISTIC consortium, ReCognitION consortium

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BackgroundMyotonic Dystrophy Type 1 (DM1), the most common genetic neuromuscular disorder in adults, poses significant challenges for drug development due to its multisystem nature and high clinical variability in symptoms and disease progression. With a growing number of therapies entering clinical trials, this study addresses the urgent need for biomarkers that can serve as surrogate endpoints.MethodsWe profiled 437 serum samples from adult DM1 patients collected at two timepoints of the OPTIMISTIC trial using bottom-up mass spectrometry with data-independent acquisition. Associations between protein expression, the disease-causing CTG-repeat and 25 clinical outcome measures were studied using linear mixed-effect models. All key study findings were validated in an independent cohort of 69 DM1 patients and 10 healthy controls.ResultsOf the 259 identified proteins, 161 showed significant associations with the CTG-repeat length (FDR < 5%). Hypogammaglobulinemia was confirmed and shown to be worse in severely affected patients. A strong proteomic signature was associated with clinical measures of functional capacity, with the 6-Minute Walk Test showing the strongest signal (70 associations, FDR < 5%). These novel associations reveal a compelling link between chronic inflammation and reduced functional capacity. A machine learning algorithm identified a minimal set of 13 proteins robustly reflecting both the underlying genetic defect and functional capacity.ConclusionsDM1 induces a broad disease fingerprint in the serum proteome, predominantly affecting proteins of the immune system. A carefully selected panel of proteins showed the greatest potential to meet the statistical criteria required for surrogate endpoints in clinical trials.

Indexed as

biomarkersbloodcomplement systemDM1myotonic dystrophy type 1proteinsserum

Identifiers

PMID41544176
PMCPMC13443340

What Socratic holds

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Registered trials

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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 Socratic graph.