Dataset Information

Large-scale Proteomics Profiling of Peripheral Blood of DM1 patients identifies biomarkers for disease severity and physical activity - Validation cohort

ABSTRACT: Myotonic Dystrophy type 1 (DM1) is a progressive multisystem disease with large heterogeneity in disease onset, symptom development, progression rates and severity. This poses significant challenges to the design of clinical trials. To overcome some of these challenges, this study aims to identify protein biomarkers in serum that can serve as measures of therapy response. Biomarker discovery was performed in serum samples of DM1 patients in the OPTIMISTIC trial, which is deposited elsewhere. The dataset in this project comprises data generated on the Canadian cohort of DM1 patients which was used as external validation cohort.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Blood Serum

DISEASE(S): Myotonic Dystrophy Type 1

SUBMITTER: Jolein Gloerich

LAB HEAD: Jolein Gloerich

PROVIDER: PXD060035 | Pride | 2026-01-19

REPOSITORIES: Pride

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Dataset's files

Source:

			Action	DRS
	20240320_PTX497_Myotonic_dystrophy_T2_Controls_Serum.zip	Other
	Uniprot_Human_reviewed_canonical_20240816_iRT.fasta	Fasta
	checksum.txt	Txt
	paser_spectral_library_Human_plasma_iRT.tsv	Tabular
	summary-results.proteinpgmaxlfq.parquet	Other

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Publications

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

van As Daniël D Claeys Tine T Salz Renee R Haver Delphi Van DV Dufour Sara S Deelen Amber van AV Gloerich Jolein J Gabriels Ralf R Volders Pieter Jan PJ Dobelmann Vera V Gangfuss Andrea A Ruck Tobias T Gourdon Genevieve G Duchesne Elise E Gagnon Cynthia C Roos Andreas A Gool Alain van AV Impens Francis F Martens Lennart L Lochmüller Hanns H Schoser Benedikt B Bassez Guillaume G van Engelen Baziel Gm BG 't Hoen Peter Ac PA

Journal of neuromuscular diseases 20260116

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 OPTIM ...[more]

PMID: 41544176

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