NICE has published draft guidance recommending risdiplam (Evrysdi) as part of a managed access agreement (MAA) for the treatment of the rare genetic disorder spinal muscular atrophy (SMA). The NHS will introduce the revolutionary new treatment, tackling the leading genetic cause of death among babies and young children. Around 1500 patients in England are expected to benefit from the drug, which can be taken as a syrup at home.

The MAA is a special agreement between NHS England, NHS Improvement, and the company Roche, allowing people to access treatment with risdiplam while more data is collected, addressing the uncertainties identified by the independent NICE committee. NICE will then decide whether to recommend the drug for routine use on the NHS and update guidance. Risdiplam will be available through the MAA until then.

SMA is a genetic neuromuscular disorder affecting motor neurons on the spinal cord. It causes muscle weakening and problems with movement, degenerating over time. Symptoms include weak arms and legs, movement problems, muscle tremors, bone and joint problems including an unusually curved spine and breathing difficulties.

There are several types of SMA and NICE’s draft guidance recommends risdiplam for children aged two months and older with a clinical diagnosis of SMA types 1, 2, or 3, or with pre-symptomatic SMA and one to four copies of the survival of motor neuron 2 (SMN2) gene.

NHS England chief executive Amanda Pritchard has said: “In the last three years, the NHS has revolutionised care for people with SMA, by securing access to a trio of innovative treatments – Spinraza, Zolgensma, and now risdiplam – where three years ago clinicians had no effective medicines at all.”

Dr Elizabeth Wraige consultant paediatric neurologist at Evelina London children’s hospital, part of Guy’s and St Thomas’ NHS foundation trust, stated: “This will be especially important for those with SMA who cannot receive either of the two existing treatments, Spinraza and Zolgenasma. These are very exciting times and I am sure this news will be welcomed by those families and individuals affected by SMA as well as by their clinicians.”