Newborn screening for SMA in Southern Belgium

[en] Approval was recently granted for a new treatment for spinal muscular atrophy (SMA). Given that the treatment is effective when administered early and the societal burden of SMA-related disability, the implementation of a newborn screening program is warranted. We describe the stepwise process that led us to launch a newborn screening program for SMA in Southern Belgium. Different political, ethical, and clinical partners were informed about this project and were involved in its governance, as were genetic and screening labs. We developed and validated a newborn screening method to specifically recognize homozygous deletions of exon 7 in the SMN1 gene. Subsequently, a 3-year pilot study has been recently initiated in one Belgian neonatal screening laboratory to cover 17.000 neonates per year. Coverage extension to all of Southern Belgium to screen 55.000 babies each year is underway. © 2019 Elsevier B.V.

Disciplines :

Neurology

Author, co-author :

Boemer, François ; Université de Liège - ULiège > Département de pharmacie > Chimie médicale

CABERG, Jean-Hubert ; Centre Hospitalier Universitaire de Liège - CHU > Unilab > Unité de laboratoire - neurogénétique

Dideberg, Vinciane ; Université de Liège - ULiège > Département des sciences de la santé publique > Département des sciences de la santé publique

DARDENNE, Dominique ; Centre Hospitalier Universitaire de Liège - CHU > Département de gestion des systèmes d'informations (GSI) > Secteur gestion des dossiers médicaux

Bours, Vincent ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Génétique humaine

Hiligsmann, M.; Department of Health Services Research, CAPHRI Care and Public Health Research Institute, Maastricht University, Maastricht, Netherlands

Dangouloff, Tamara ; Université de Liège - ULiège > Département des sciences cliniques > Neuropédiatrie

Servais, Laurent ; Centre Hospitalier Universitaire de Liège - CHU > Département de Pédiatrie > Service de pédiatrie

Language :

English

Title :

Newborn screening for SMA in Southern Belgium

Publication date :

2019

Journal title :

Neuromuscular Disorders

ISSN :

0960-8966

eISSN :

1873-2364

Publisher :

Elsevier Ltd

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 23 October 2019

Statistics

Number of views

128 (8 by ULiège)

Number of downloads

2 (2 by ULiège)

More statistics

Scopus citations^®

Scopus citations^®
without self-citations

OpenCitations

Bibliography

Kaufmann, P., McDermott, M.P., Darras, B.T., Finkel, R., Kang, P., Oskoui, M., et al. Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year. Arch Neurol 68 (2011), 779–786, 10.1001/archneurol.2010.373.
Lefebvre, S., Bürglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80 (1995), 155–165, 10.1016/0092-8674(95)90460-3.
Finkel, R.S., Mercuri, E., Darras, B.T., Connolly, A.M., Kuntz, N.L., Kirschner, J., et al. Nusinersen versus Sham control in infantile-onset spinal muscular atrophy. N Engl J Med 377 (2017), 1723–1732, 10.1056/NEJMoa1702752.
Mercuri, E., Darras, B.T., Chiriboga, C.A., Day, J.W., Campbell, C., Connolly, A.M., et al. Nusinersen versus Sham control in later-onset spinal muscular atrophy. N Engl J Med 378 (2018), 625–635, 10.1056/NEJMoa1710504.
Pechmann, A., Langer, T., Schorling, D., Stein, S., Vogt, S., Schara, U., et al. Evaluation of children with SMA Type 1 under treatment with nusinersen within the expanded access program in Germany. J Neuromuscul Dis, 2018, 10.3233/JND-180315.
Pane, M., Palermo, C., Messina, S., Sansone, V.A., Bruno, C., Catteruccia, M., et al. Nusinersen in type 1 SMA infants, children and young adults: preliminary results on motor function. Neuromuscul Disord 28 (2018), 582–585, 10.1016/j.nmd.2018.05.010.
Aragon-Gawinska, K., Seferian, A.M., Daron, A., Gargaun, E., Vuillerot, C., Cances, C., et al. Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: a cohort study. Neurology 91 (2018), e1312–e1318, 10.1212/WNL.0000000000006281.
Mendell, J.R., Al-Zaidy, S., Shell, R., Arnold, W.D., Rodino-Klapac, L.R., Prior, T.W., et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med 377 (2017), 1713–1722, 10.1056/NEJMoa1706198.
Naryshkin, N.A., Weetall, M., Dakka, A., Narasimhan, J., Zhao, X., Feng, Z., et al. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy. Science 345 (2014), 688–693, 10.1126/science.1250127 (80-).
Prior, T.W., Professional Practice and Guidelines Committee. Carrier screening for spinal muscular atrophy. Genet Med 10 (2008), 840–842, 10.1097/GIM.0b013e318188d069.
Su, Y.-N., Hung, C.-C., Lin, S.-Y., Chen, F.-Y., Chern, J.P.S., Tsai, C., et al. Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005–2009: a prospective population-based cohort study. PLoS One, 6, 2011, e17067, 10.1371/journal.pone.0017067.
Govoni, A, Gagliardi, D, Comi, GP, Corti, S, Time is motor neuron: therapeutic window and its correlation with pathogenetic mechanisms in spinal muscular atrophy. Mol Neurobiol, 2018, 1–12, 10.1007/s12035-017-0831-9.
Bertini, E., Hwu, W.-L., Reyna, S.P., Farwell, W., Gheuens, S., Sun, P., et al. Efficacy and safety of nusinersen in infants with presymptomatic spinal muscular atrophy (SMA): interim results from the NURTURE study. Eur J Paediatr Neurol, 21, 2017, e14, 10.1016/j.ejpn.2017.04.1218.
Gidaro, T., Servais, L., Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps. Dev Med Child Neurol, 2018, 10.1111/dmcn.14027.
Klug, C., Schreiber-Katz, O., Thiele, S., Schorling, E., Zowe, J., Reilich, P., et al. Disease burden of spinal muscular atrophy in Germany. Orphanet J Rare Dis, 11, 2016, 58, 10.1186/s13023-016-0424-0.
Chien, Y.H., Chiang, S.C., Weng, W.C., Lee, N.C., Lin, C.J., Hsieh, W.S., et al. Presymptomatic diagnosis of spinal muscular atrophy through newborn screening. J Pediatr 190 (2017), 124–129, 10.1016/j.jpeds.2017.06.042 e1.
Kraszewski, J.N., Kay, D.M., Stevens, C.F., Koval, C., Haser, B., Ortiz, V., et al. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state. Genet Med, 2017, 10.1038/gim.2017.152.
Wilson, J.M.G., Jungner, G., Principles and practice of screening for disease. 1968, WHO, Geneva.
Glascock, J., Sampson, J., Haidet-Phillips, A., Connolly, A., Darras, B., Day, J., et al. Treatment algorithm for infants diagnosed with spinal muscular atrophy through Newborn screening. J Neuromuscul Dis 26 (2018), 1–14, 10.3233/JND-180304.
Wirth, B., Schmidt, T., Hahnen, E., Rudnik-Schöneborn, S., Krawczak, M., Müller-Myhsok, B., et al. De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am J Hum Genet 61 (1997), 1102–1111, 10.1086/301608.
Feuchtbaum, L., Cunningham, G., Economic evaluation of tandem mass spectrometry screening in California. Pediatrics 117 (2006), S280–S286, 10.1542/peds.2005-2633G.
Chabanon, A., Seferian, A.M., Daron, A., Péréon, Y., Cances, C., Vuillerot, C., et al. Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: baseline data NatHis-SMA study. PLoS One, 13, 2018, e0201004, 10.1371/journal.pone.0201004.
Grosse, S.D., Showing value in newborn screening: challenges in quantifying the effectiveness and cost-effectiveness of early detection of phenylketonuria and cystic fibrosis. Healthcare 3 (2015), 1133–1157, 10.3390/healthcare3041133.