First Newborn Screening for SMA in UK Launched in Oxford Pilot Study

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by Patricia Inacio, PhD |

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Unlike in Australia, the U.S., and even several EU countries, there have been no programs for newborn screening for spinal muscular atrophy (SMA) in the United Kingdom — despite compelling evidence that an early diagnosis can improve patient outcomes.

Now, Oxford University in the U.K. has launched a pilot study to conduct routine testing of newly born babies for SMA for the first time.

Newborn screening involves testing an infant’s blood sample for genetic mutations that cause SMA; such testing allows a baby to be diagnosed within days of birth.

This study is being led by Laurent Servais, MD, PhD, a professor at the University of Oxford, and his colleagues, with funds from Novartis Gene Therapies, Roche, and Oxford Biomedical Research Centre.

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It will be available to babies born across any of the four hospital trusts in the Thames Valley, which include Oxford University Hospitals NHS Trust, Royal Berkshire NHS Foundation Trust, Milton Keynes University Hospital NHS Foundation Trust, and Buckinghamshire Healthcare NHS Trust.

“The University of Oxford and the John Radcliffe Hospital (OUH NHS FT) are excited to be part of this amazing study, designed to identify babies at risk of spinal muscular atrophy from blood spots taken as part of routine newborn screening,” Manu Vatish, MD, PhD, professor of obstetrics and an obstetrician consultant, said in a press release. “We are delighted to be able to help Professor Laurent Servais identify these children so that they can receive treatment that should stop this terrible disease from progressing.”

SMA is caused by mutations in the SMN1 gene, which provides instructions for making a protein called SMN. Lack of a functional protein leads to the death of motor neurons — the specialized nerve cells that control voluntary muscle movement — giving rise to most of the disease’s symptoms.

Currently, SMA is not routinely screened before or at birth in the U.K., as opposed to other countries, such as in most states across the U.S., Germany, Poland, Belgium, and some parts of Japan.

In the past few years, three treatments for SMA — Biogen’s Spinraza, the gene therapy Zolgensma by Novartis’ subsidiary AveXis, and most recently Roche’s Evrysdi — have been approved in many countries. Broadly, these therapies work by increasing levels of functional SMN protein in the body, helping to prevent the degeneration of motor neurons.

Evidence supports that babies with SMA who begin therapy early, before symptoms appear, respond best.

“’Four years ago, in Belgium I started screening newborn babies for spinal muscle atrophy (SMA), this early intervention has been extremely successful in identifying 15 patients and through the latest treatments we have positively changed their life outcomes,” said Servais, also a professor of pediatric neuromuscular diseases at the MDUK Oxford Neuromuscular Centre.

“I am proud to say they are doing well. Screening for SMA at birth will significantly increase a newborn’s chance of survival and improve,” Servais said.

The newborn screening study will be conducted via the routine U.K. newborn blood spot collection, using a dried blood spot sample that is usually collected by pricking the baby’s heel.

The results from this pilot study are expected to contribute to early detection, diagnosis, and access to SMA therapies. Moreover, the results will be used as evidence to be presented to the U.K. National Screening Committee to support the potential addition of SMA into the UK’s routine neonatal testing.

“Today, in the UK, we are not screening our children for SMA even though we know how it works and we know how to use it. This must change and we are proud to be driving this change,” said Servais.