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

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; the SMA NBS World Study Group

doi:10.1016/j.nmd.2021.03.007

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

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 ChanYin 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, the SMA NBS World Study Group

^*Corresponding author for this work

Research output: Contribution to journal › Article › Research › peer-review

113 Citations (Scopus)

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.

Original language	English
Pages (from-to)	574-582
Number of pages	9
Journal	Neuromuscular Disorders
Volume	31
Issue number	6
DOIs	https://doi.org/10.1016/j.nmd.2021.03.007
Publication status	Published - Jun 2021
Externally published	Yes

Keywords

Newborn screening
Nusinersen
Onasemnogene abeparvovec
Pre-symptomatic
Risdiplam
Spinal muscular atrophy

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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., ... the SMA NBS World Study Group (2021). Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go. Neuromuscular Disorders, 31(6), 574-582. https://doi.org/10.1016/j.nmd.2021.03.007

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

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.",

keywords = "Newborn screening, Nusinersen, Onasemnogene abeparvovec, Pre-symptomatic, Risdiplam, Spinal muscular atrophy",

author = "Tamara Dangouloff and Eva Vr{\v s}{\v c}aj and Laurent Servais and Damjan Osredkar and Thierry Adoukonou and Omid Aryani and Nina Barisic and Fahad Bashiri and Laila Bastaki and Afaf Benitto and Omran, {Tawfeg Ben} and Guenther Bernert and Enrico Bertini and Patricia Borde and Peter Born and Boustani, {Rose Mary} and Nina Butoianu and Claudia Castiglioni and Feriha Catibusic and Sophelia Chan and Chien, {Yin Hsiu} and Kyproula Christodoulou and Donniphat Dejsuphong and Michelle Farrar and Duma Filip and Nathalie Goemans and Kokou Guinhouya and Jana Haberlova and Kinga Hadzsiev and Kristine Hovhannesyan and Pirjo Isohanni and Radovic, {Nelica Ivanovic} and David Jacquier and Alusine Jalloh and Maria Jedrzejowska and Gwen Kandawasvika and Celestin Kaputu and Nfwama Kawatu and Kristin Kernohan and Jan Kirschner and Barbara Klink and Sherry Kodsy and Kouame-Assouan, {Ange Eric} and Ruzica Kravljanac and Madara Kreile and Ivan Litvinenko and Hugh McMillan and Sandra Mesa and Inaam Mohamed and Kanzoska, {Liljana Muaremoska} and {the SMA NBS World Study Group}",

note = "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: {\textcopyright} 2021 Elsevier B.V.",

year = "2021",

month = jun,

doi = "10.1016/j.nmd.2021.03.007",

language = "English",

volume = "31",

pages = "574--582",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Ltd.",

number = "6",

}

Dangouloff, T, Vrščaj, E, Servais, L, Osredkar, D, Adoukonou, T, Aryani, O, Barisic, N, Bashiri, F, Bastaki, L, Benitto, A, Omran, TB, Bernert, G, Bertini, E, Borde, P, Born, P, Boustani, RM, Butoianu, N, Castiglioni, C, Catibusic, F, Chan, S, Chien, YH, Christodoulou, K, Dejsuphong, D, Farrar, M, Filip, D, Goemans, N, Guinhouya, K, Haberlova, J, Hadzsiev, K, Hovhannesyan, K, Isohanni, P, Radovic, NI, Jacquier, D, Jalloh, A, Jedrzejowska, M, Kandawasvika, G, Kaputu, C, Kawatu, N, Kernohan, K, Kirschner, J, Klink, B, Kodsy, S, Kouame-Assouan, AE, Kravljanac, R, Kreile, M, Litvinenko, I, McMillan, H, Mesa, S, Mohamed, I, Kanzoska, LM & the SMA NBS World Study Group 2021, 'Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go', Neuromuscular Disorders, vol. 31, no. 6, pp. 574-582. https://doi.org/10.1016/j.nmd.2021.03.007

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 - 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 - Kanzoska, Liljana Muaremoska

AU - the SMA NBS World Study Group

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

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

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UR - https://pubmed.ncbi.nlm.nih.gov/33985857

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DO - 10.1016/j.nmd.2021.03.007

M3 - Article

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AN - SCOPUS:85105604094

SN - 0960-8966

VL - 31

SP - 574

EP - 582

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 6

ER -

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

Abstract

Keywords

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