Background:
Duchenne muscular dystrophy (DMD) is a debilitating genetic disorder characterized by progressive muscle degeneration. Biomarkers play a critical role in advancing DMD management by facilitating early diagnosis, monitoring disease progression, and evaluating treatment responses. Recent advancements in biomarker discovery offer potential for improving patient care and accelerating therapeutic development.
Objectives:
This systematic review evaluates recent innovations in DMD biomarker research, focusing on emerging molecular, imaging, and functional biomarkers and their relevance to clinical applications.
Methods:
A systematic search of PubMed, Embase, and Cochrane Library identified studies published up to 2024 that investigated biomarkers for DMD. Eligible studies included preclinical and clinical research evaluating biomarker utility in diagnosis, prognosis, and therapeutic monitoring. Data were synthesized to highlight current trends and key findings.
Results:
Analysis of 30 studies identified promising biomarkers, including serum creatine kinase as a traditional diagnostic marker and microRNAs (e.g., miR-206 and miR-1) for monitoring muscle damage. Imaging biomarkers such as MRI-based fat fraction quantification provided insights into disease progression. Novel biomarkers, including dystrophin quantification and inflammatory cytokines, demonstrated potential for evaluating treatment responses in clinical trials. Limitations included variability in biomarker standardization and validation.
Conclusion:
Innovations in DMD biomarker discovery are transforming disease management by enabling precise monitoring and personalized therapeutic strategies. Continued research is essential to validate novel biomarkers and integrate them into clinical practice, advancing outcomes for patients with DMD.