Lessons Learned From a Pilot Program for SMA Newborn Screening

A new study published in Scientific Reports highlights the importance of including spinal muscular atrophy (SMA) in all newborn screening programs and reports the lessons learned while transitioning from a pilot program to an official program. 

François Boemer, PhD, and the coauthors of the study report on 10 patients with SMA who were identified through a 3-year pilot program and treated. The pilot program has now transitioned into the official neonatal screening program in southern Belgium.

“Our project confirms that a pilot program can be rapidly transitioned into the official [newborn screening] program,” the researchers wrote. They emphasized the importance of initiating treatment early before symptoms appear, as this is when they are most effective, and how newborn screening can help achieve this. 

There are 3 therapies that the US Food and Drug Administration (FDA) and European Medicines Agency (EMA) have approved for the treatment of SMA. Research has shown that patients treated before symptom onset had better outcomes. This knowledge led to the inclusion of SMA in newborn screening programs across the world, with 9 countries currently screening for SMA at birth.

Read more about SMA patient education

Here, the researchers report the findings of the 3-year pilot program, through which 136,339 newborns were screened in the Liège region of Belgium. The program identified 9 SMA patients with a homozygous deletion in exon 7 of the SMN1 gene. It also identified 1 patient who was symptomatic and had a deletion in exon 7 in 1 allele and a point mutation in the other allele of the SMN1 gene. This corresponds to an incidence of 1 in 13,634 newborns.

One of the lessons learned during the implementation of the pilot program is the possibility of parents refusing treatment for a baby who is showing no symptoms of the disease, highlighting the importance of patient education.

Another lesson learned is the implication for siblings of a patient diagnosed with SMA through newborn screening, as was the case for the 2 siblings of 1 patient who both turned out to have homozygous deletions in exon 7.

Finally, the authors reported on the importance of unanimous support from all stakeholders, including patient advocacy groups, neuromuscular reference centers, newborn screening centers, and the public, to successfully transition from a pilot program to an official program. 

Reference 

Boemer F, Caberg JH, Beckers P,  et al. Three years pilot of spinal muscular atrophy newborn screening turned into official program in southern Belgium. Sci Rep. 2021;11(1):19922. doi:10.1038/s41598-021-99496-2