spinrazaa protest
SMA patients and their families protest in London, England in 2018 over a National Institute for Health and Care Excellence (NICE) recommendation against the SMA therapy Spinraza. Credit: Kacpar Ruciński

When Gennadiy Ilyashenko’s daughter, Sophia, was born, she looked like a healthy, happy baby. 

Sophia sma
Sophia Ilyashenko, who has SMA type 1c, at age 4. Credit: Ilyashenko family

But after Sophia failed to meet certain milestones, like being able to sit up by herself, Ilyashenko took her to the family’s London, England pediatrician, who told him “she’s just a lazy baby, there’s nothing wrong with her.”

Yet Sophia’s condition got progressively worse, and just before her first birthday, a genetic analysis confirmed she had spinal muscular atrophy (SMA) type 1c. “The doctors said that by the age of 2, she’d either be dead or on permanent ventilation,” said Ilyashenko, who is now cofounder and managing trustee of the nonprofit group TreatSMA.

Continue Reading

He later inquired why England’s National Health Service (NHS) routinely screens for cleft palate and other nonfatal conditions, but not SMA. “They told us ‘we don’t really want to scare parents,’ ” he said. “My reply was, ‘but we should have been scared.’ Had my daughter been screened for SMA and diagnosed from birth, I would have put her in a clinical trial much sooner.”

UK’s Lack of Newborn SMA Screening ‘Absurd’

In the battle against COVID-19, Great Britain has emerged as Europe’s undisputed leader — both in the number of vaccines administered and in the number of shots given as a percentage of its population. But when it comes to screening their babies for SMA, the Brits lag far behind. The irony is even more striking given that US and European regulators have approved 3 drugs to treat this crippling autosomal recessive disease: nusinersen (marketed as Spinraza®), onasemnogene abeparvovec (marketed as Zolgensma®) and risdiplam (marketed as Evrysdi™).

“This is absurd,” said Kacper Ruciński, a member of the steering committee of the European Alliance for Newborn Screening in Spinal Muscular Atrophy. Rucinski said it costs only 2 or 3 euros (roughly $2.50 to $3.50) to screen a newborn for SMA, versus 7 million euros (approximately $8.5 million) over the lifetime of a patient with SMA type 2 —  just for administration of Spinraza, hospitalizations and related costs — not including the drugs themselves 

to treat the disease, which is caused by a lack of functional survival motor neuron protein.

Ruciński, who like Ilyashenko has a daughter with SMA type 2, estimates that 12,000 SMA patients live in the 27 nations comprising the European Union. Meanwhile, Europe as a whole (including Russia) is home to more than 20,000 people with SMA.

In the United States, 34 out of 50 states now screen for SMA. In Canada, SMA newborn screening is limited to the largest province, Ontario, which alone accounts for 39% of Canada’s population. Likewise, screening in Australia now takes place in New South Wales (Sydney) and the Australian Capital Territory (Canberra).

Currently, European newborn screening programs for SMA are limited to specific provinces and regions of Belgium, France, Germany, Italy, Poland, and Spain. And in the UK, a pilot program in the Thames Valley region of Oxford will likely get underway later this year.

Credit: Muscular Dystrophy Association

Ruciński: If Germany or Poland Can Do It, So Can Britain

But because the NHS does not routinely cover nusinersen, Ruciński said, “this has led the National Screening Committee to conclude that SMA does not fulfill the criteria of a disease that should be screened for — since there’s no guaranteed treatment.”

He acknowledged that it’s a “huge exercise” to add a genetic disease to a country’s newborn screening panel.

“All the labs have to be re-equipped to do genetic testing, and new protocols have to be developed,” he said. “But Poland is a country of 38 million people, with almost 400,000 children born every year. Germany has 83 million people and almost 800,000 babies born every year, and both these countries have decided to screen for SMA because it brings credible benefits to children. It gives them a chance of living their lives without disabilities.”

Other European countries that have decided to implement routine newborn screening for SMA include Belgium, the Netherlands, Serbia, and Slovenia. The list keeps growing. Yet British authorities claim “there is no published evidence that the tests used abroad will be as effective in Britain at detecting SMA,” Ruciński said.

Europe SMA screening map
Credit: SMA Europe

While the UK’s reluctance to approve newborn screening for SMA is unrelated to Brexit, “both are a consequence of the same mindset,” Rucinski believes. “The world out there can’t be trusted, never mind our children.”

He added: “The EU has no role in newborn screening, which like all health care has been explicitly excluded from European treaties. The EU does very few things related to health, one of which is EMA [European Medicines Agency] and that’s it. But the pandemic has changed everything, and officials are asking whether maybe the EU should play a stronger role now.”

Fewer Than 2% of World’s Newborns Screened

Laurent Servais, MD, is a professor of pediatric neuromuscular diseases at Britain’s University of Oxford. He said the UK’s refusal to approve newborn screening for SMA 2 years ago is a result of several factors, including “confusion between carrier screening and newborn screening,” and part of the opposition stems from the fact that it’s genetic, rather than metabolic, screening.

“This also includes other techniques not currently used in newborn screening, so of course we need to convince people that these techniques are appropriate for newborn screening,” he said. “Some people fear genetic tests that are performed on a systematic basis at birth. The problem is that there are very few actual peer-reviewed data in presymptomatic patients. We hope this year we’ll come up with a paper on the economic impact of newborn screening that shows hard data.”

Laurent Servais, MD
Laurent Servais, MD

According to an article Dr. Servais helped write for Neuromuscular Disorders, fewer than 2% of the world’s newborns are currently screened for SMA. So far, screening programs underway in 9 countries have detected 288 babies with SMA, among nearly 3.7 million newborns screened.

Taiwan is currently the only nation which tests all newborns for the disease, though several regional pilot programs began transitioning to national coverage in 2021, including those underway in Belgium and Germany.

The article predicts that in the next 4 years, screening programs will cover 24% of newborns from countries where a disease-modifying drug is available, and 8.5% of newborns in countries with no disease-modifying drugs.

Risdiplam a ‘Game Changer’ for Older SMA Patients

Between 50% and 60% of Europe’s SMA patients currently receive nusinersen (Spinraza), Dr. Servais estimated. Relatively few have been treated with onasemnogene abeparvovec (Zolgensma), mainly because of its recent approval.

According to Dr. Servais, gene therapy is only really safe for younger SMA infants. “In older and heavier babies, you see adverse events that are more frequent and more severe,” he said, adding that “this is why most people with SMA cannot and will never receive intravenous gene therapy.”

SMA Warsaw conference
Dorota Raczek and her daughter, Emilka, who has SMA type 3, attend a Warsaw conference in 2018 . Credit: Larry Luxner

Yet for infants who can receive either drug — especially presymptomatic patients — “Zolgensma is a very attractive option because it’s a one-shot treatment, given the choice between that and intrathecal injections once every 4 months,” he said. “On top of that, with Zolgensma the baby will have received the full dose. There’s no risk anyone will say it’s no longer reimbursable.”

The third approved treatment, risdiplam (Evrysdi), he said, “is a game changer, especially for older patients who cannot receive gene therapy” because it’s a once-a-day oral syrup. According to clinical data, 40% of patients with SMA type 1 achieve a sitting position within the first year on risdiplam, and nearly all retain the ability to swallow.

Given the UK’s recent success at beating back COVID-19 through widespread immunization, Dr. Servais wonders why this same kind of preventive medicine shouldn’t also apply to rare diseases.
“Public opinion is focused on COVID, so a disease that affects only 1 out of 10,000 people seems not that important,” he said. “But I’m pretty sure that when things go back to normal, this will once again be a concern compared to the cost of not doing anything.”

This page was updated on July 14, 2021.