Among newly diagnosed UK Type 2/3 SMA patients under 18, 65% now choose oral risdiplam over intrathecal nusinersen.

Spinal muscular atrophy is a motor neuron disease caused by SMN1 loss, with SMN2 copy number acting as the severity modifier. The UK added SMA to its national newborn screening programme in 2021, the first country in Europe to do so, screening via a day-5 heel-prick SMN1 homozygous-deletion PCR test, with positive results notified to Great Ormond Street Hospital or a regional SMA centre within 24 to 48 hours. Roughly 20-25 cases are detected through newborn screening annually, and pre-symptomatic treatment with gene therapy is now standard practice at six NHS-designated SMA gene therapy centres.

The living UK SMA cohort is estimated at around 1,000 patients across all types: roughly 200 with Type 1, historically high mortality and now largely newborn-screening detected, 400 with Type 2, the largest living cohort, 350 with Type 3, and 50 adult-onset Type 4. NHS Highly Specialised Services commission SMA management through four regional networks, Manchester, GOSH/Evelina, Birmingham/Alder Hey, and Edinburgh, and all three approved therapies, onasemnogene abeparvovec, risdiplam, and nusinersen, are available on the NHS with confidential commercial arrangements. For newly diagnosed Type 2/3 patients under 18, a 2023 NHS centre survey found 65% of families choosing oral risdiplam over intrathecal nusinersen.

Screening solved diagnosis; therapy choice is now shifting toward the oral option.

Five questions this report answers:

Q1 - How has the UK's 2021 newborn-screening programme changed the pre-symptomatic SMA treatment population?

Q2 - How is the roughly 1,000-patient UK SMA cohort distributed across Type 1 through 4?

Q3 - Where does unmet need remain in UK SMA once screening and NICE-recommended therapies exist?

Q4 - Which four NHS regional networks commission SMA management and gene therapy access?

Q5 - Why are 65% of newly diagnosed under-18 Type 2/3 patients choosing risdiplam over nusinersen?

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