A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland.

Abstract

The recent development of three effective therapies for patients with spinal muscular atrophy (SMA) – Nusinersen (Spinraza), Onasemnogene abeparvovec (Zolgensma) and Risdiplam (Evrysdi) - arguably represents one of the great medical achievements of the 21 st century. 1 These treatments, which all work via restoring levels of the SMN protein, have revolutionised the outlook for patients with an otherwise incurable, and mostly fatal, condition. However, all three treat-ments come at a signi fi cant fi nancial cost For example, Zolgensma (often referred to as “ the world ’ s most expensive drug ” ) has a list price of nearly £1.8m per dose. Moreover, a large body of pre-clinical research, supported by emerging data from patient clinical trials, makes clear that the effective-ness of all current SMA therapies is largely determined by how early therapy can be delivered. 1,2 Thus, pre-symptomatic treatment of patients results in signi fi cantly better outcomes both in terms of patient bene fi ts and fi nancial return on investment - than starting treatment after symptom onset. If then follows identify SMA patients onset hence exists: