FAQs

Spinal muscular atrophy (SMA) is a rare, progressive, neuromuscular disease which leads to immobility and results in a short life expectancy for many children diagnosed with the condition. The incidence of SMA is approximately 1 in 8,000 people, depending on the country.
Despite being a rare disease, left untreated, SMA is the leading genetic cause of death in infants and toddlers. SMA involves the loss of nerve cells called motor neurons that control muscles.
Once lost, motor neurons cannot be regenerated. 50-60% of children born with SMA can never sit up independently and without treatment, do not live beyond two years of age.
There is no cure for SMA but as of August 2020, there are two treatments approved in Europe that can preserve motor neurons. Being treated as early as possible is therefore a key issue for babies born with SMA and their families.

Spinal muscular atrophy (SMA) is a rare, progressive, neuromuscular disease which leads to immobility and results in a short life expectancy for many children diagnosed with the condition. The incidence of SMA is approximately 1 in 8,000 people, depending on the country.
Despite being a rare disease, left untreated, SMA is the leading genetic cause of death in infants and toddlers. SMA involves the loss of nerve cells called motor neurons that control muscles.
Once lost, motor neurons cannot be regenerated. 50-60% of children born with SMA can never sit up independently and without treatment, do not live beyond two years of age.
There is no cure for SMA but as of August 2020, there are two treatments approved in Europe that can preserve motor neurons. Being treated as early as possible is therefore a key issue for babies born with SMA and their families.

This Whitepaper summarises the major reasoning for introducing SMA newborn screening. It is authored by a multi-stakeholder Steering Committee, and with input from other experts with admedicum acting as the secretariat of the Alliance.

This Whitepaper was written under the leadership of SMA Europe e.V., the umbrella organisation of the European SMA patient organisations. The Whitepaper is informed, written, and reviewed including independent scientific advice from a multi-professional scientific advisory panel including Dr. Raquel Yahyaoui, Dr. Nathalie Goemans, and Dr. Eduardo Tizanno. The chapter on SMA NBS process proposal was written by Dr. Raquel Yahyaoui. The chapter on health economics was written by Dr. Cornelius Boersma and Dr. Maarten Postma.

The writing and dissemination process is financially supported by a multi-stakeholder funding circle in full compliance with the principles of independence and transparency.

Steering committee members:
• Chair: Marie-Christine Ouillade, SMA Europe e.V.
• Kacper Rucinski, SMA Europe e.V.
• Dr. Nathalie Goemans, Neuromuscular Reference Centre, Department of Paediatrics and Child Neurology, University Hospitals Leuven, Belgium
• Jana Popova, European Alliance of Neuromuscular Disorders Associations (EAMDA)
• Gulcin Gumus, PhD., EURORDIS
• Dr. Eduardo Tizzano, Pediatrician and Director Department of Clinical and Molecular Genetics, Hospital Universitari Vall d’Hebron, Barcelona, Spain

Additional experts:
• Dr. Raquel Yahyaoui, Clinical Biochemistry Specialist. Newborn Screening Center of Eastern Andalusia. Málaga Regional University Hospital. Málaga, Spain
• Dr. Cornelis Boersma, Founder & CEO of Health-Ecore BV, Netherlands
• Dr. Maarten Postma, Professor Global Health Economics, University of Groningen, Netherlands

Secretariat:
• admedicum Business for Patients (Dr. Andreas Reimann, Robert Pleticha, Dr. Meike Neukirchen), Cologne, Germany and Barcelona, Spain

This Whitepaper was sponsored by unrestricted educational grants from Biogen, Novartis Gene Therapies, Roche, PerkinElmer and LaCAR MDX Technologies.

Spinal muscular atrophy (SMA) is a severe rare disease that has a big impact on affected children and their families. At the same time, it is a challenging disease for health care systems in Europe. There was no treatment until the approval of the first disease-modifying therapy (DMT) nusinersen (Spinraza) in 2017.

Treatment approaches until then involved symptom management to slow down the loss of motor-function and maintain the quality of life as much as possible, while delaying death for as long as possible. The landscape has now changed. For the first time, children with SMA, when diagnosed early and treated as soon as possible with state-of-the art disease-modifying therapies, now have a completely different and improved prognosis.

As the European Union has no direct responsibility in newborn screening (NBS), patient organizations and their members are growing increasingly frustrated at the national bureaucracy of the newborn screening committees which require that similar dossiers are completed to approve SMA newborn screening in each of the member states. This Whitepaper is meant to facilitate this process and support national SMA patient organisations in their advocacy efforts.

This Whitepaper was initiated by the European Alliance for Newborn Screening in Spinal Muscular Atrophy, a multi-stakeholder initiative under the leadership of SMA Europe e.V., a European umbrella organisation of national patient and research organisations focused on spinal muscular atrophy. It is intended to inform a systematic dialogue in the health care systems in Europe to help foster the introduction of SMA newborn screening for all children in Europe.

The authors are aware, however, that introducing newborn screening for SMA mandates a well thought-through process taking medical, ethical, social and economic context into perspective. This Whitepaper aims to provide fact-based insights on these aspects.

A pilot is a small, normally regional, study to test newborn screening research protocols, data collection instruments, sample strategies, and other research techniques in preparation for a larger study, or implementation of newborn screening for SMA nationwide.

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