First UK pilot study of newborn screening for SMA was launched in Oxford. The aim of the study is to improve the health of newborn babies affected by SMA. Pregnant women in the Thames Valley can take part in the screening trial to detect SMA,
The pilot study will be run at the MDUK Oxford Neuromuscular Centre and is being led by Professor Laurent Servais.
Latest data from the SPR1NT trial has been released, again confirming the impact of Zolgensma for children at risk for SMA who are treated before the onset of symptoms. In sharp contrast to the natural course of SMA, children treated pre-emptively with Zolgensma are standing and walking, with few or no signs of neuromuscular disease.
A group of healthcare professionals involved in the diagnosis and care of people SMA in Scotland published a paper in the Scottish Medicine Journal calling for the addition of SMA to the list of diseases on the newborn screening programme. In the paper, they reiterate: “Any possibility to identify SMA patients before the onset of symptoms, and hence begin treatment as early as possible, should be taken advantage of”.
The Guardian has published an article emphasising the importance of treating SMA pre-symptomatically, with a focus in the difference in prognosis. Dr Elizabeth Wraige, a Consultant Paediatric Neurologist at Evelina London Children’s Hospital, is quoted in the article explaining the devastating impact of providing an SMA diagnosis to parents over the last ten years. “Parents feel as if they’ve been hit by a sledgehammer,” she says. “In that conversation, any hope that it was something that could be remedied was taken away,” says Wraige, a paediatric neurologist at Evelina London children’s hospital. “It was devastation.”
A new study, “Evolving approaches to prenatal genetic counselling for Spinal Muscular Atrophy in the new treatment era”, has been published in the Journal of Genetic Counselling. Their results found that many prenatal genetic counsellors are unfamiliar with important concepts related to SMA and its treatment. A genetic counsellor is a specialist who can help patients understand complicated genetic information and what that information means for their health and family planning. As such, researchers are calling for improved communication to counsellors to help parents understand the condition and the idea of newborn screening so that they can better prepare for the future.
Professor Laurent Servais, gave a talk at an online event entitled ‘Newborn Screening: What Should Be Screened for and How?’, held by the Progress Educational Trust (PET). Professor Servais showed several videos of children affected by spinal muscular SMA) to demonstrate the difference between children who received gene therapy before the onset of symptoms living normal lives – running around, climbing stairs – and children who received it after a later diagnosis, their lives saved but left unable to walk and requiring ventilation.
He showed three studies, with three different medications, which all show that a patient treated after the onset of symptoms will never walk and have serious disabilities, compared to those treated before onset who will be able to walk/run and live normally.
Roche has published their latest interim results from the RAINBOWFISH study in pre-symptomatic babies with SMA under two months of age, which demonstrated its safety and efficacy in treating pre-symptomatic babies under two months of age with SMA.
