TY - JOUR
T1 - Newborn screening programs for spinal muscular atrophy worldwide
T2 - Where we stand and where to go
AU - Dangouloff, Tamara
AU - Vrščaj, Eva
AU - Servais, Laurent
AU - Osredkar, Damjan
AU - the SMA NBS World Study Group
AU - Benitto, Afaf
AU - Castiglioni, Claudia
AU - Christodoulou, Kyproula
AU - Dejsuphong, Donniphat
AU - Radovic, Nelica Ivanovic
AU - Jacquier, David
AU - Jalloh, Alusine
A2 - Adoukonou, Thierry
A2 - Aryani, Omid
A2 - Barisic, Nina
A2 - Bashiri, Fahad
A2 - Bastaki, Laila
A2 - Omran, Tawfeg Ben
A2 - Bernert, Guenther
A2 - Bertini, Enrico
A2 - Borde, Patricia
A2 - Born, Peter
A2 - Boustani, Rose Mary
A2 - Butoianu, Nina
A2 - Catibusic, Feriha
A2 - Chan, Sophelia
A2 - Chien, Yin Hsiu
A2 - Farrar, Michelle
A2 - Filip, Duma
A2 - Goemans, Nathalie
A2 - Guinhouya, Kokou
A2 - Haberlova, Jana
A2 - Hadzsiev, Kinga
A2 - Hovhannesyan, Kristine
A2 - Isohanni, Pirjo
A2 - Jedrzejowska, Maria
A2 - Kandawasvika, Gwen
A2 - Kaputu, Celestin
A2 - Kawatu, Nfwama
A2 - Kernohan, Kristin
A2 - Kirschner, Jan
A2 - Klink, Barbara
A2 - Kodsy, Sherry
A2 - Kouame-Assouan, Ange Eric
A2 - Kravljanac, Ruzica
A2 - Kreile, Madara
A2 - Litvinenko, Ivan
A2 - McMillan, Hugh
A2 - Mesa, Sandra
A2 - Mohamed, Inaam
A2 - Kanzoska, Liljana Muaremoska
N1 - Funding Information:
LS has given lectures and has served as a consultant for Roche, Biogen, Avexis, and Cytokinetics. LS is the project leader of the newborn screening in Southern Belgium funded by Avexis, Roche, and Biogen.
Publisher Copyright:
© 2021 Elsevier B.V.
PY - 2021/6/1
Y1 - 2021/6/1
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
M3 - Article
C2 - 33985857
AN - SCOPUS:85105604094
SN - 0960-8966
VL - 31
SP - 574
EP - 582
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
IS - 6
ER -