Therapeutics and Clinical Risk Management (Oct 2019)
Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives
Abstract
Tamara Dangouloff,1 Laurent Servais1,2 1Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège & University of Liège, Liège, Belgium; 2MDUK Neuromuscular Center, Department of Paediatrics, University of Oxford, Oxford, UKCorrespondence: Laurent ServaisCRMN, CHU Liège, Boulevard du Douzième de Ligne, 1, Liège 4000, BelgiumTel +33 6 22 59 22 43Fax +32 4 321 83 28Email [email protected]: Recent advances in the treatment of spinal muscular atrophy (SMA) have dramatically altered prognosis. Rather than a rapidly lethal disease, SMA type 1, the most severe form with the earliest onset of SMA, has become a disease in which long-term event-free survival with the acquisition of important motor milestones is likely. Prognosis for patients with SMA type 2 has shifted from slow and progressive deterioration to long-term stability. Nevertheless, there is a large heterogeneity in terms of clinical response to currently available treatments, ranging from absence of response to impressive improvement. The only factor identified that is predictive of treatment success is the age of the patient at the initiation of treatment, which is closely related to disease duration. The aim of this paper is to review available evidence that support early intervention using currently available treatment approaches.Keywords: spinal muscular atrophy, nusinersen, zolgensma, risdiplam, branaplam, newborn screening
