SMA screening trial for newborns in England to begin next month

England is preparing to start a clinical trial next month that will offer newborn screening for spinal muscular atrophy (SMA), a rare genetic condition. The trial follows a campaign by former Little Mix singer Jesy Nelson, whose twin daughters are severely affected by SMA. They were diagnosed only after symptoms began. She has said she will feel heartbroken for the rest of her life.

The programme will be rolled out gradually. In the first year, selected hospitals will take part, starting in Birmingham. It will then be extended across England. Results will be monitored over five years to assess the impact and whether savings offset the cost of screening.

SMA is severe and progressive. Professor Laurent Servais said the most important step is to identify the condition before symptoms appear and begin treatment early. Once symptoms show, damage has already been done and quality of life has been lost. In the most severe form, children lose the ability to sit, walk, swallow and breathe, and may die within months.

The test would be added to the existing newborn heel prick test, which currently screens for 10 other conditions. A small blood sample is taken from a heel prick. Teddy, a two-year-old boy, was enrolled in a pilot screening study in 2023. He was diagnosed with a rare form of SMA because of early testing. His parents said they might not have signed up if Teddy had not needed hospital treatment at the time, and that his early diagnosis was incredible.

The hope is that more children receive treatment before symptoms start and can thrive. Teddy is now being treated and is described as lively and fond of playing with cars.