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Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

2021; Elsevier BV; Volume: 31; Issue: 6 Linguagem: Inglês

10.1016/j.nmd.2021.03.007

1873-2364

Tamara Dangouloff, Eva Vrščaj, Laurent Servais, Damjan Osredkar, Thierry Adoukonou, Omid Aryani, Nina Barišić, Fahad A. Bashiri, Lailá Bastaki, Afaf Benitto, Tawfeg Ben Omran, Guenther Bernert, Enrico Bertini, Patricia Borde, Peter Born, Rose-Mary Boustani, Nina Butoianu, Claudia Castiglioni, Feriha Ćatibušić, H.S. Chan, Yin‐Hsiu Chien, Kyproula Christodoulou, Donniphat Dejsuphong, Michelle A. Farrar, Duma Filip, Nathalie Goemans, Kokou Mensah Guinhouya, Jana Haberlová, Kinga Hadzsiev, Kristine Hovhannesyan, Pirjo Isohanni, Nelica Ivanović Radović, David Jacquier, Alusine Jalloh, Maria Jędrzejowska, Gwen Kandawasvika, Celestin Kaputu, Nfwama Kawatu, Kristin D. Kernohan, Janbernd Kirschner, Barbara Klink, Sherry Kodsy, Ange-Eric Kouamé-Assouan, Ružica Kravljanac, Madara Kreile, Ivan Litvinenko, Hugh J. McMillan, Sandra Lucía Restrepo Mesa, Inaam Mohamed, Liljana Muaremoska Kanzoska, Yoram Nevo, Séraphin Nguefack, Kafula Lisa Nkole, Gina O’Grady, Declan O’Rourke, Maryam Oskoui, Flávia Piazzon, Dimitri Poddighe, Audronė Prasauskienė, Juan Carlos Prieto, Magnhild Rasmussen, Santara Razafindrasata, Narayan Chandra Saha, Kayoko Saito, Foksouna Sakadi, Modibo Sangaré, Mary Schroth, L. V. Shalkevich, Andriy Shatillo, Renu Suthar, Léna Szabó, Nana Tatishvili, Mériem Tazir, Eduardo F. Tizzano, Haluk Topaloğlu, M. Tulinius, Ludo van der Pol, Gabriel Vázquez, D. Vlodavets, Jithangi Wanigasinghe, Jo M. Wilmshurst, Hui Xiong, Dimitrios Zafeiriou, Eleni Zamba,

Parvovirus B19 Infection Studies

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.