Rare Disease Groups, Pharmas Join SMA Europe Push for Newborn Screening

Rare Disease Groups, Pharmas Join SMA Europe Push for Newborn Screening
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Patient advocacy groups, a university, and pharmaceutical companies are among the 12 new partners of the European Alliance for Newborn Screening in Spinal Muscular Atrophy, also known as the SMA NBS Alliance.

SMA Europe founded the alliance last year in an effort to include SMA in all newborn screening (NBS) tests in Europe by 2025. It announced these latest additions to its membership on a webpage.

Prompt diagnosis and treatment of SMA is vital to preventing the onset of disability and in maintaining the best possible quality of life.

Current therapy works to increase the body’s production of the SMN protein, whose loss in SMA leads to the death of motor neurons. Raising SMN levels early in the disease’s course can protect these neurons, which is crucial; once lost, such neurons cannot be regenerated.

Two SMN-boosting treatments approved in Europe are Spinraza (nusinersen), made by Biogen, and Zolgensma, developed by Novartis Gene Therapies.

A third treatment called Evrysdi (risdiplam), developed by Roche and Genentech, is available in the U.S. An application for European approval has been filed and is under review.

In addition to direct harm to children, delayed diagnosis can also cause considerable trauma to families, both in terms of the time spent trying to understand what is happening to their child, and in the knowledge of a missed treatment opportunity.

The alliance wants to shorten the time to a correct diagnosis and the start of treatment by expanding access to newborn screening, and by helping patient advocacy groups with identifying a child with SMA in a timely manner.

In support of this goal, alliance members organize various activities and events in their respective countries, aimed at bringing health authorities to include SMA in national screening programs.

The 12 organizations now part of the SMA NBS Alliance are the patient associations (or umbrella groups for these associations) Rare Diseases Europe (Eurordis), the European Reference Network for Neuromuscular Disorders, TREAT-NMD, and the European Alliance of Neuromuscular Disorders Associations; the University of Groningen and the University Medical Centre Groningen (in the Netherlands); the pharmaceutical companies Novartis, Biogen, Roche, and LaCAR; and the healthcare and solutions companies Health-Ecore and Perkin Elmer.

SMA Europe is an umbrella group made up of 23 national SMA patient organizations from across Europe.

Forest Ray received his PhD in systems biology from Columbia University, where he developed tools to match drug side effects to other diseases. He has since worked as a journalist and science writer, covering topics from rare diseases to the intersection between environmental science and social justice. He currently lives in Long Beach, California.
Total Posts: 85

Ana holds a PhD in Immunology from the University of Lisbon and worked as a postdoctoral researcher at Instituto de Medicina Molecular (iMM) in Lisbon, Portugal. She graduated with a BSc in Genetics from the University of Newcastle and received a Masters in Biomolecular Archaeology from the University of Manchester, England. After leaving the lab to pursue a career in Science Communication, she served as the Director of Science Communication at iMM.

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Forest Ray received his PhD in systems biology from Columbia University, where he developed tools to match drug side effects to other diseases. He has since worked as a journalist and science writer, covering topics from rare diseases to the intersection between environmental science and social justice. He currently lives in Long Beach, California.
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