The new European Alliance for Newborn Screening in Spinal Muscular Atrophy (SMA NBS Alliance) was launched as a final initiative to mark this year’s SMA Awareness Month.
Its members include the 19 patient organizations that are part of SMA Europe, as well as EURORDIS — Rare Diseases Europe, the European Alliance of Neuromuscular Disorders Associations, TREAT-NMD, and pharmaceutical companies AveXis — now Novartis Gene Therapies — Biogen, and Roche, SMA Europe said in a press release
To help achieve its goal of having every newborn in Europe tested for the neurodegenerative disorder, the members of the SMA NBS Alliance will take part in a variety of activities explaining why SMA should be included in national screening programs. These activities include writing a white paper, or an in-depth report on the subject.
In addition, members are organizing activities in their respective countries aimed at getting health regulators to consider adding SMA to newborn screening panels. National screening committees regularly review screening recommendations for various conditions as new evidence becomes available.
Newborn screening is important in identifying a progressive and often life-threatening disease in the hours after birth, allowing a child to be treated before irreparable damage is done. Early detection and diagnosis may mean the difference between life and death for an infant with a severe form of SMA.
Moreover, the lack of a diagnosis can cause a serious psychological impact on families due to a missed opportunity for treatment, according to SMA Europe.
SMA is the leading genetic cause of death in infants and toddlers. The progressive neuromuscular disease involves the loss of nerve cells — motor neurons — that control muscles. Once lost, such neurons cannot be regenerated. Some 50% to 60% of children born with SMA can never sit up independently and, without treatment, don’t live past age 2.
Now, two SMA treatments are approved in Europe that increase the body’s production of SMN, a protein essential to motor neuron survival. Those treatments are Spinraza (nusinersen) by Biogen, and Zolgensma, a gene therapy developed by AveXis, a Novartis company.
A third treatment, Evrysdi (risdiplam), developed by Roche and Genentech, has been approved in the U.S., and a filing is expected to be made shortly to the European Medicines Agency (EMA), the regulatory agency for the European Union.
“We hope that with newly launched treatments, reviews will now take place and following new applications, revised guidance will be delivered across countries to include SMA,” SMA Europe said. “Newborn screening allows to treat children with SMA, before motor neuron destruction, thus giving them a chance of a normal life.”
During the 10th European Conference on Rare Diseases & Orphan Products, held virtually earlier this year, a panel suggested that European authorities must step up efforts to screen babies for a multitude of genetic disorders, including SMA.
As of 2018, according to the International Society for Neonatal Screening, the number of conditions for which babies are screened varied from only one or two in Belarus, Croatia, Latvia, Moldova, Poland, Romania, Slovenia and Ukraine, to 20 or more in Austria, Hungary, Iceland, North Macedonia, Portugal, Spain, Slovakia and Sweden.
“In order to advocate for newborn screening for SMA in Europe, SMA founded the Alliance to bring together all stakeholders who share this vision and are willing to work together toward making it a reality,” SMA Europe said.
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