Groups Join Forces to Push for SMA Newborn Screening in Scotland

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by Mary Chapman |

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As part of ongoing efforts to have all newborns in the U.K. screened for spinal muscular atrophy (SMA), Muscular Dystrophy UK (MDUK) recently met with an ad hoc Scottish group to hear from parents and clinicians about life with SMA and the benefits of early diagnoses.

The meeting, hosted by the Scottish Cross-Party Group (CPG) on Muscular Dystrophy, was ultimately aimed at having the rare genetic disease added to the list of disorders included in Scotland’s free newborn screening program.

Newborn screening is performed shortly after a child is born and screens for mutations known to cause rare and serious disorders. The procedure can identify infants with SMA before any symptoms manifest — a time when starting therapy has been demonstrated to result in markedly better outcomes.

Such screening takes place in several European countries but has not been implemented in the U.K. As such, the CPG called the recent meeting of SMA specialists and patients’ parents about efforts in Scotland.

“It was particularly poignant to hear from two parents of children with SMA,” MDUK states in a press release. “Though every circumstance is unique, a common theme shared by both families was the long and arduous diagnostic journey they experienced. Both parents were able to pinpoint specific symptoms that went unnoticed by clinicians due to the rarity of SMA, which they referred to as a series  of ‘missed opportunities,’ some of which came only a few hours after birth.”

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Attendees also heard from one parent who recounted every instance in which a healthcare professional missed an SMA symptom in their son, including during a test for motor responses.

“A few weeks later, he was experiencing eating difficulties due to his weakened stomach muscles, and despite seeing a [general practitioner] and a lactation consultant, healthcare professionals suggested it was a latch issue that would resolve itself,” the parent said. “It was only 2.5 months after his birth that it became very clear in a Zoom call that he was moving significantly less than the other babies.”

MDUK and SMA UK are co-secretariats of the UK SMA Newborn Screening Alliance, which seeks to have SMA screening implemented across the U.K. The alliance, which is composed of patient groups, leading clinicians, and academic investigators, has presented a petition signed by more than 11,000 individuals to Scotland’s government asking that SMA be added to the NHS newborn screening program.

In response, the government said it would later this year reassess the evidence for SMA newborn screening. It is also developing a trial pilot study to evaluate the efficacy of newborn screening.

Earlier this year, a group of healthcare professionals in Scotland wrote a letter that was published in the Scottish Medical Journal advocating for SMA to be added to the newborn screening protocol.

Three disease-modifying therapies for SMA — Biogen’s Spinraza (nusinersen), Novartis’ Zolgensma, and Roche’s Evrysdi (risdiplam) — are available in several countries, including the U.K.

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The availability of such therapies and the proven importance of early detection and treatment in preventing lifelong disability prompted the start of SMA newborn screening programs in a number of countries.

“Overall, the CPG meeting was insightful into the day-to-day lives of people living with SMA,” MDUK stated. “Hearing these stories reaffirmed the urgency for introducing newborn SMA screening. MDUK will continue to work with the Newborn Screening Alliance to campaign on the issue until every new parent in the U.K. has access to SMA screening.”

For more information on the alliance, send an email to [email protected].