Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
Dangouloff T. Vrščaj E. Servais L. Osredkar D. Adoukonou T. Aryani O. Barisic N. Bashiri F. Bastaki L. Benitto A. Omran T.B. Bernert G. Bertini E. Borde P. Born P. Boustani R.-M. Butoianu N. Castiglioni C. Catibusic F. Chan S. Chien Y.H. Christodoulou K. Dejsuphong D. Farrar M. Filip D. Goemans N. Guinhouya K. Haberlova J. Hadzsiev K. Hovhannesyan K. Isohanni P. Radovic N.I. Jacquier D. Jalloh A. Jedrzejowska M. Kandawasvika G. Kaputu C. Kawatu N. Kernohan K. Kirschner J. Klink B. Kodsy S. Kouame-Assouan A.-E. Kravljanac R. Kreile M. Litvinenko I. McMillan H. Mesa S. Mohamed I. Kanzoska L.M. Nevo Y. Nguefack S. Nkole K. OGrady G. ORourke D. Oskoui M. Piazzon F. Poddighe D. Prasauskiene A. Prieto J. Rasmussen M. Razafindrasata S. Saha N. Saito K. Sakadi F. Sangare M. Schroth M. Shalkevich L. Shatillo A. Suthar R. Szabo L. Tatishvili N. Tazir M. Tizzano E. Topaloglu H. Tulinius M. van der Pol L. Vazquez G. Vlodavets D. Wanigasinghe J. Wilmshurst J. Xiong H. Zafeiriou D. Zamba E.
June 2021Elsevier Ltd
Neuromuscular Disorders
2021#31Issue 6574 - 582 pp.
Spinal muscular atrophy (SMA) is a rare and devastating disease. New disease-modifying treatments have recently been approved and early treatment has been related to a better outcome. In this context, several newborn screening (NBS) programs have been implemented. The aim of the study was to obtain a global overview on the current situation and perspectives on SMA NBS. We conducted a survey and contacted experts from 152 countries, from which we gathered 87 responses. We identified 9 SMA NBS programs that have so far detected 288 newborns with SMA out of 3,674,277 newborns screened. Funding, screening methods, organisation, and consent process were variable between SMA NBS programs. Many respondents pointed the lack of cost/benefit data as a major obstacle to SMA NBS implementation. In the next four years, our data suggest a 24% coverage of newborns from countries where a disease-modifying drug is available and 8,5% coverage in countries with no diseases-modifying drugs. The annual proportion of newborns to be screened in the coming years is expected to increase steadily. The experts expressed a strong need for the implementation of SMA NBS as means to improve care for patients with SMA.
Newborn screening , Nusinersen , Onasemnogene abeparvovec , Pre-symptomatic , Risdiplam , Spinal muscular atrophy
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Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Pediatrics, University Hospital Liège & University of Liège, CRMN Liège, CHR de la Citadelle, Boulevard du 12ème de Ligne, Liège, 4000, Belgium
Department of Pediatric Neurology, University Childrens Hospital, University Medical Centre Ljubljana, Bohoričeva 20, Ljubljana, 1525, Slovenia
MDUK Neuromuscular Centre, Department of Paediatrics, University of Oxford, United Kingdom
Medical Faculty, University of Ljubljana, Slovenia
Benin
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Hong Kong, Hong Kong
Taiwan, China
Cyprus
Thailand
Australia
North Macedonia
Flanders, Belgium
Togo
Czech Republic
Hungary
Armenia
Finland
Montenegro
Switzerland
Sierra Leone
Poland
Zimbabwe
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Canada
Germany
Luxembourg
Egypt
Cote dIvoire
Serbia
Latvia
Bulgaria
ON, Canada
Colombia
Sudan
North Macedonia
Israel
Cameroon
Zambia
New Zealand
Ireland
Canada
Brazil
Kazakhstan
Lithuania
Chile
Norway
Madagascar
Bangladesh
Japan
Chad
Mali
United States
Belarus
Ukraine
India
Hungary
Georgia
Algeria
Spain
Turkey
Sweden
Netherlands
Argentina
Russian Federation
Sri Lanka
South Africa
China
Greece
Cyprus
Division of Child Neurology
Department of Pediatric Neurology
MDUK Neuromuscular Centre
Medical Faculty
Benin
Iran
Croatia
Saudi Arabia
Kuwait
Morocco
Qatar
Austria
Italy
Luxembourg
Denmark
Lebanon
Romania
Chile
Bosnia
Hong Kong
Taiwan
Cyprus
Thailand
Australia
North Macedonia
Flanders
Togo
Czech Republic
Hungary
Armenia
Finland
Montenegro
Switzerland
Sierra Leone
Poland
Zimbabwe
Democratic Republic Congo
Zambia
Canada
Germany
Luxembourg
Egypt
Cote dIvoire
Serbia
Latvia
Bulgaria
ON
Colombia
Sudan
North Macedonia
Israel
Cameroon
Zambia
New Zealand
Ireland
Canada
Brazil
Kazakhstan
Lithuania
Chile
Norway
Madagascar
Bangladesh
Japan
Chad
Mali
United States
Belarus
Ukraine
India
Hungary
Georgia
Algeria
Spain
Turkey
Sweden
Netherlands
Argentina
Russian Federation
Sri Lanka
South Africa
China
Greece
Cyprus
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