NHS to Fund Drugs for Muscle-Wasting Disease

Why this is here: Ezra Thorman, diagnosed with SMA type 1, was initially expected to live under two years, but began receiving nusinersen at five months old and is now attending primary school.

The National Institute for Health and Care Excellence (NICE) in England, Wales, and Northern Ireland approved two drugs for children with spinal muscular atrophy (SMA). This decision allows roughly 1,150 children and young adults under 18 in England to receive either nusinersen or risdiplam through the NHS. SMA is a genetic condition causing muscle weakness, impacting movement, breathing, and swallowing.

Portia Thorman of Ramsgate, Kent, described how nusinersen transformed her son Ezra’s life, allowing him to attend mainstream primary school after doctors initially predicted he would not live past two years old. Before treatment, Ezra frequently required intensive care for common colds. The drugs, previously available in a limited capacity since 2019 and 2021, are now routinely available following price agreements between the NHS and Biogen and Roche Pharmaceuticals.

Researchers at the University of Oxford are currently evaluating the feasibility of adding SMA screening to routine newborn blood tests. The NHS plans to begin an in-service evaluation of newborn screening this October. While this approval offers long-term access to treatment, the possibility of early detection through newborn screening remains under investigation.