Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy
Didu ST Kariyawasam, Arlene D'Silva, Cindy Lin, Monique M Ryan, Michelle A Farrar
Frontiers in Neurology | FRONTIERS MEDIA SA | Published : 2019
Recent unprecedented advances in treatment for spinal muscular atrophy (SMA) enabled patients to access the first approved disease modifying therapy for the condition. There are however many uncertainties, regarding timing of treatment initiation, response to intervention, treatment effects and long-term outcomes, which are complicated by the evolving phenotypes seen in the post-treatment era for patients with SMA. Biomarkers of disease, with diagnostic, prognostic, predictive, and pharmacodynamic value are thus urgently required, to facilitate a wider understanding in this dynamic landscape. A spectrum of these candidate biomarkers, will be evaluated in this review, including genetic, epige..View full abstract
The authors acknowledge Dr. Kate Carey for her contribution to the preparation of figures in the manuscript. AD'S acknowledges funding from the Sydney Children's Hospital Foundation. DK acknowledges funding from the Freedman Family Foundation.