Biological biomarkers in muscle diseases relevant for follow-up and evaluation of treatment

Muscle diseases cover a diverse group of disorders that, in most cases, are hereditary. The rarity of the individual muscle diseases provides a challenge for researchers when wanting to establish natural history of the conditions and when trying to develop diagnostic tools, therapies, and outcome me...

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Published in:Brain (London, England : 1878) Vol. 148; no. 2; p. 363
Main Authors: Stemmerik, Mads G, Tasca, Giorgio, Gilhus, Nils Erik, Servais, Laurent, Vicino, Alex, Maggi, Lorenzo, Sansone, Valeria, Vissing, John
Format: Journal Article
Language:English
Published: England 03.02.2025
Subjects:
Biomarkers - metabolism
Humans
Muscular Diseases - diagnosis
Muscular Diseases - metabolism
Muscular Diseases - therapy
FSHD
biomarkers
muscle diseases
trial end points
ISSN:1460-2156, 1460-2156
Online Access:Get more information
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Summary:Muscle diseases cover a diverse group of disorders that, in most cases, are hereditary. The rarity of the individual muscle diseases provides a challenge for researchers when wanting to establish natural history of the conditions and when trying to develop diagnostic tools, therapies, and outcome measures to evaluate disease progression. With emerging molecular therapies in many genetic muscle diseases, as well as biological therapies for the immune-mediated diseases, biological biomarkers play an important role in both drug development and evaluation. In this review, we focus on the role of biological biomarkers in muscle diseases and discuss their utility as surrogate end points in therapeutic trials. We categorize these as either (i) disease unspecific markers; (ii) markers of specific pathways that may be used for more than one disease; or (iii) disease-specific markers. We also propose that evaluation of specific therapeutic interventions benefits from biological markers that match the intervention.
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ISSN:1460-2156
1460-2156
DOI:10.1093/brain/awae323