The National Institute for Health and Care Excellence (Nice) has published final draft guidance recommending two drugs for spinal muscular atrophy (SMA), a rare genetic disorder causing progressive muscle weakness. The decision means patients in England, Wales, and Northern Ireland can access nusinersen (Spinraza) or risdiplam (Evrysdi) from the NHS starting Thursday.
Life-Changing Treatments
SMA affects movement, breathing, and swallowing, with severe cases leading to death before age two. Prof James Palmer, NHS England's national medical director for specialised services, hailed the drugs as a "phenomenal step forward." He stated: "For parents who faced the unimaginable pain of thinking their child would not reach their second birthday, they now have hope of seeing them walk to school and play with their friends."
Approximately 1,150 under-18s in England have SMA, with 1,500 to 2,500 cases across all ages in the UK. An estimated 70 babies are born with the condition each year.
Personal Stories of Hope
Portia Thorman, mother of nine-year-old Ezra, described the treatment as a lifeline. Ezra, diagnosed with SMA type 1 in 2016, began nusinersen at five months old. "He would have been dead by the age of two without it," she said. "Now he attends mainstream school in Ramsgate, Kent—a milestone we were told he would never reach."
Former Little Mix singer Jesy Nelson, whose twin daughters have SMA, is campaigning for newborn screening. The NHS in England plans an in-service evaluation of screening in October.
How the Drugs Work
Nusinersen is injected into spinal fluid regularly, while risdiplam is taken daily as syrup or tablets at home. Both have been available since 2019 and 2021 respectively, but only on a limited basis. NHS England reached pricing agreements with manufacturers Biogen and Roche Pharmaceuticals to ensure routine availability.
Helen Knight, Nice's director of medicines evaluation, said the drugs offer "substantial, life-changing benefits," including longer life, independence, and reduced hospital care. Giles Lomax, CEO of SMA UK, called it a "historic moment," ending years of uncertainty for the SMA community.
