1. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
- Author
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Tamara Dangouloff, Eva Vrščaj, Laurent Servais, Damjan Osredkar, Thierry Adoukonou, Omid Aryani, Nina Barisic, Fahad Bashiri, Laila Bastaki, Afaf Benitto, Tawfeg Ben Omran, Guenther Bernert, Enrico Bertini, Patricia Borde, Peter Born, Rose-Mary Boustani, Nina Butoianu, Claudia Castiglioni, Feriha Catibusic, Sophelia Chan, Yin Hsiu Chien, Kyproula Christodoulou, Donniphat Dejsuphong, Michelle Farrar, Duma Filip, Nathalie Goemans, Kokou Guinhouya, Jana Haberlova, Kinga Hadzsiev, Kristine Hovhannesyan, Pirjo Isohanni, Nelica Ivanovic Radovic, David Jacquier, Alusine Jalloh, Maria Jedrzejowska, Gwen Kandawasvika, Celestin Kaputu, Nfwama Kawatu, Kristin Kernohan, Jan Kirschner, Barbara Klink, Sherry Kodsy, Ange-Eric Kouame-Assouan, Ruzica Kravljanac, Madara Kreile, Ivan Litvinenko, Hugh McMillan, Sandra Mesa, Inaam Mohamed, Liljana Muaremoska Kanzoska, Yoram Nevo, Seraphin Nguefack, Kafula Nkole, Gina O'Grady, Declan O'Rourke, Maryam Oskoui, Flavia Piazzon, Dimitri Poddighe, Audrone Prasauskiene, Juan Prieto, Magnhild Rasmussen, Santara Razafindrasata, Narayan Saha, Kayoko Saito, Foksouna Sakadi, Modibo Sangare, Mary Schroth, Leanid Shalkevich, Andriy Shatillo, Renu Suthar, Lena Szabo, Nana Tatishvili, Meriem Tazir, Eduardo Tizzano, Haluk Topaloglu, Mar Tulinius, Ludo van der Pol, Gabriel Vazquez, Dimitry Vlodavets, Jithangi Wanigasinghe, Jo Wilmshurst, Hui Xiong, Dimitrios Zafeiriou, and Eleni Zamba
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Context (language use) ,Disease ,Muscular Atrophy, Spinal ,03 medical and health sciences ,Neonatal Screening ,0302 clinical medicine ,Surveys and Questionnaires ,medicine ,Screening method ,Humans ,Genetics (clinical) ,Newborn screening ,business.industry ,Infant, Newborn ,food and beverages ,Spinal muscular atrophy ,medicine.disease ,SMA ,030104 developmental biology ,Neurology ,Family medicine ,embryonic structures ,Pediatrics, Perinatology and Child Health ,Nusinersen ,Neurology (clinical) ,business ,030217 neurology & neurosurgery - Abstract
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.
- Published
- 2021
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