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.
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.
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.
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