TY - JOUR
T1 - Newborn screening programs for spinal muscular atrophy worldwide
T2 - Where we stand and where to go
AU - the SMA NBS World Study Group
AU - Dangouloff, Tamara
AU - Vrščaj, Eva
AU - Servais, Laurent
AU - Osredkar, Damjan
AU - Adoukonou, Thierry
AU - Aryani, Omid
AU - Barisic, Nina
AU - Bashiri, Fahad
AU - Bastaki, Laila
AU - Benitto, Afaf
AU - Omran, Tawfeg Ben
AU - Bernert, Guenther
AU - Bertini, Enrico
AU - Borde, Patricia
AU - Born, Peter
AU - Boustani, Rose Mary
AU - Butoianu, Nina
AU - Castiglioni, Claudia
AU - Catibusic, Feriha
AU - Chan, Sophelia
AU - Chien, Yin Hsiu
AU - Christodoulou, Kyproula
AU - Dejsuphong, Donniphat
AU - Farrar, Michelle
AU - Filip, Duma
AU - Goemans, Nathalie
AU - Guinhouya, Kokou
AU - Haberlova, Jana
AU - Hadzsiev, Kinga
AU - Hovhannesyan, Kristine
AU - Isohanni, Pirjo
AU - Radovic, Nelica Ivanovic
AU - Jacquier, David
AU - Jalloh, Alusine
AU - Jedrzejowska, Maria
AU - Kandawasvika, Gwen
AU - Kaputu, Celestin
AU - Kawatu, Nfwama
AU - Kernohan, Kristin
AU - Kirschner, Jan
AU - Klink, Barbara
AU - Kodsy, Sherry
AU - Kouame-Assouan, Ange Eric
AU - Kravljanac, Ruzica
AU - Kreile, Madara
AU - Litvinenko, Ivan
AU - McMillan, Hugh
AU - Mesa, Sandra
AU - Mohamed, Inaam
AU - Nevo, Yoram
N1 - Publisher Copyright:
© 2021 Elsevier B.V.
PY - 2021/6
Y1 - 2021/6
N2 - 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.
AB - 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.
KW - Newborn screening
KW - Nusinersen
KW - Onasemnogene abeparvovec
KW - Pre-symptomatic
KW - Risdiplam
KW - Spinal muscular atrophy
UR - http://www.scopus.com/inward/record.url?scp=85105604094&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2021.03.007
DO - 10.1016/j.nmd.2021.03.007
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C2 - 33985857
AN - SCOPUS:85105604094
SN - 0960-8966
VL - 31
SP - 574
EP - 582
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
IS - 6
ER -