Statistics from Altmetric.com
Newborn screening (NBS) has clinical and economic benefits when combined with gene therapies treating spinal muscular atrophy (SMA)
Few would argue that the recent series of breakthroughs successfully delivering effective Survival Motor Neuron (SMN) protein-restoring gene therapy to patients with SMA represents a milestone achievement in the field of neuromuscular diseases. The approval of nusinersen (Spinraza), onasemnogene abeparvovec (Zolgensma) and risdiplam (Evrysdi) by regulatory agencies has, for the first time, provided genuine disease-modifying therapeutic options.1 2 While these therapies fall short of a cure, the benefits delivered far exceed what was realistically predicted and hoped for, both in terms of patient survival and achievement of major motor milestones.2–4
Understandably, significant efforts have been made by SMA patient organisations and charities to ensure rapid access to SMN-restoring therapies for as many …
Contributors The author solely contributed to this article.
Funding The author has not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests The author has served on spinal muscular atrophy advisory boards for Roche.
Provenance and peer review Commissioned; internally peer reviewed.
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.