SMA and the Need for Newborn Screening

As the WMS25 virtual congress kicks off, I want to reflect with you on how much the outlook has transformed for people with spinal muscular atrophy (SMA) and their families.

Before the advent of SMA-targeted treatment, more than two thirds of babies with the most severe form of SMA, Type 1, died before their second birthday. Today, with multiple SMA-targeted treatment options available, the future looks much brighter for many babies, children and adults with this rare, genetic disorder. I’m honoured to be part of this global scientific community, including many industry and academic researchers, patients and patient groups, for the meaningful difference that collectively we have made to the lives of people living with SMA. 

However, my optimism about the future given the number of new medicines, is balanced by the big challenges I know still lie ahead. SMA is still the number one genetic cause of death in infants, many people remain untreated and delays to diagnosis still severely affect a person’s outcomes. It is imperative that we change that situation so that patients with SMA can have the earliest possible start on efficacious therapy.

Early detection is important in many conditions, but it is particularly true in SMA as the loss of motor neurons that control muscles cannot be regenerated. There are already several lines of evidence from clinical trials that show an earlier start of therapy results in better clinical outcomes. Therefore, timely diagnosis may mean the difference between life and death for an infant with a severe form of SMA, or the difference between optimal clinical outcome or a lessened response. That is why we at Roche are delighted to be members of the European Alliance for Newborn Screening in SMA, led by SMA Europe.

Launched at the end of last month to mark SMA Awareness Month 2020, the Alliance demands that newborn screening programmes in Europe include a test for SMA for all newborn children by 2025.

Newborn screening is the practice of testing all babies in their first days of life for certain disorders that are treatable, but difficult or impossible to detect clinically, to allow for the identification of patients before the first symptoms emerge. There is already clinical precedent for this, for example with widespread screening for PKU or hypothyroidism being a normal part of newborn health checks. Now it is time to move this practice to incorporate common genetic disorders such as SMA. This is especially critical in SMA Type 1, where motor neuron degeneration starts before birth and escalates quickly.

As members of the Alliance, we are joined by SMA Europe’s 19 patient organisations, EURORDIS, the European Alliance of Neuromuscular Disorders Associations, TREAT-NMD, and pharmaceutical companies Novartis Gene Therapy (formerly AveXis) and Biogen. We will take part in a variety of activities including writing a whitepaper on newborn screening for SMA that collects scientific evidence to support the imperative for SMA’s inclusion in national newborn screening programmes.

At Roche, we have been inspired by the SMA community and privileged to work alongside them for a long time, not only for their tenacity in raising awareness of SMA and their relentless support for finding a treatment, but also by their resilience in recent times during the COVID-19 pandemic.

I am very proud and thankful for everything we have collectively achieved so far and look forward to surmounting the challenges that lie ahead together, and excited to help co-create a better future for people with SMA.