People in UK Urged to Sign Petition Adding SMA to Newborn Screening

The UK SMA Newborn Screening Alliance is calling on people to take action and sign a petition requesting that spinal muscular atrophy (SMA) to be added to the U.K.’s National Health System (NHS) newborn screening program and funded.

U.K. citizens and residents can sign the petition, which is collecting signatures up to Dec. 17, here.

The petition was set up by Laurent Servais, a child neurologist and professor of pediatric neuromuscular diseases at the MDUK Oxford Neuromuscular Centre. Servais is a leader of the alliance.

“Every five days in the UK, a baby is born with SMA, which can lead to complex disability and, at its most severe, cut a young life short. But if, at birth, babies were given the treatments that are now available through the NHS, they could have longer and healthier lives,” Servais said in a press release posted by the nonprofit patient advocacy group SMA UK.

SMA UK, which offers support services and information to the SMA community, is a member of the screening alliance.

As part of a newborn screening, a blood spot test, also called a heel prick test, is performed shortly after birth to identify rare but serious diseases. This is done by using genetic testing to look for mutations that are known causes of diseases like SMA.

An early diagnosis means that babies can receive treatment promptly. New treatments, including those funded by the NHS, are most effective when given at the earliest opportunity.

Routine newborn screening for SMA, however, is not in place in the U.K. Currently, babies are only tested after they show symptoms, which are often irreversible, or if a family member has or had SMA.

“There are countries across the world that already have newborn screening (NBS) for SMA but the UK is not currently one of them. For every five days that a decision is delayed, a baby born with SMA could be denied the chance of a brighter future,” Servais said.

Delays in a start to treatment are costly, both in human and societal terms, the neurologist noted in a 2020 interview with SMA News Today that accompanied U.S. approval of Evrysdi (risdiplam, by Roche), SMA’s third disease-modifying therapy. The others are Spinraza (nusinersen, by Biogen), and Zolgensma, a gene therapy by Novartis.

“As soon as possible means, actually, before symptoms are evident,” Servais said in the interview, as motor neurons that are lost to the disease do not regenerate.  “Whatever the treatment, there is today no patient who has been treated after the symptoms [appear] and who is normal.”

In 2019, however, the U.K.’s National Screening Committee recommended against introducing a national newborn screening program for SMA. Reasons given included “a lack of information on the total number of people affected,” and “no evidence on the effectiveness of nusinersen in children without symptoms.” (Zolgensma is not yet available in the U.K. through the NHS, although its inclusion was favored in June; Evrysdi remains under consideration.)

The alliance, launched in 2020, brings together patient organizations, academics, and the pharmaceutical industry. Its members are gathering scientific evidence supporting SMA be added to the national newborn screening program.

On July 30, alliance members will join National Screening Committee representatives in an all-day workshop to determine the evidence needed to best ensure that the next review is based on all available data.

Strong public support shown for SMA newborn screening through this petition, the group argues, could be of influence in a subsequent review.

“The UK Newborn Screening for SMA Alliance is committed to demonstrating that screening for SMA is safe, cost-effective, and extremely efficient,” it states in its release. “As we engage with decision-makers over the coming months, we’ll need to show there is strong public support. By signing Professor Servais’ petition, you’ll add your voice to the cause — every signature counts.”

At 10,000 signatures, the U.K. government will respond to the petition; at 100,000 signatures, the petition will be considered for debate in the Parliament.

The alliance is also working with other groups to expand the number of disorders being screened at birth, which is currently nine in the U.K., compared with up to 50 in other countries, including those of Europe.