Clinical application of molecular biomarkers in Duchenne muscular dystrophy: challenges and perspectives

Abstract

ABSTRACT Introduction: Duchenne muscular dystrophy is a severe, X-linked disease characterized by decreased muscle mass and function in children. Genetic and biochemical research over the years has led to the characterization of the cause and the pathophysiology of the disease. Moreover, the elucidation of genetic mechanisms underlining Duchenne muscular dystrophy has allowed for the design of innovative personalized therapies. Areas covered: The identification of specific, accurate, and sensitive biomarkers is becoming crucial for evaluating muscle disease progression and response to therapies, disease monitoring, and the acceleration of drug development and related regulatory processes. The most promising findings and up-to-date progress in the discovery of proteins or RNA biomarkers and SNPs acting as genetic modifiers are illustrated in this review. Searches were carried out through databases, PubMed, ClinicalTrials.gov. Expert opinion: Authors highlighted the challenges encountered in translating biomarkers into the clinical context and the existing bottlenecks hampering the adoption of biomarkers as surrogate endpoints. These bottlenecks could be overcome by national and international collaborative efforts, multicenter data sharing, and the creation of large cohorts of patients as well as novel statistical tools that can analyze small patient numbers. Finally, collaborations with pharmaceutical companies would greatly increase data sharing, especially from patients who have undergone clinical trials.