Incorporating a new disease in the newborn screening programs in Europe: the spinal muscular atrophy case study

Abstract

Patient advocacy organizations have a forefront role in ensuring that patients’ voices and needs are embedded as a constitutive basis in drug development, diagnosis, and policy recommendations in the healthcare ecosystem. Their sustained involvement in accelerating the policy changes for inclusion of additional diseases in the newborn screening (NBS) programs, supporting harmonization in terms of number of screened diseases across the European Union, constitutes a driving force for advancing the quality of care and the management of rare diseases by aligning NBS policies and practices internationally. In the current European landscape, NBS varies significantly across regions and countries. Patient advocacy organizations are acting to alert healthcare authorities of the existing inequity in NBS and recommending that additional diseases be added to the national NBS programs. Here, we describe the state of play for Spinal Muscular Atrophy (SMA) as a model for advancing NBS for rare diseases where a treatment regime is available. Ultimately, a broad understanding of NBS for SMA will additionally serve as a means to understand the financial impact of early therapeutic intervention for a rare disease.

Keywords

Newborn screening / rare diseases / patient advocacy organizations / spinal muscular atrophy

References

[1] CRA insights: life sciences. A landscape assessment of newborn screening (NBS) in Europe. 2021. Available from: https://media.crai.com/wp-content/uploads/2021/11/19130322/CRA-LS-Insights-NBS-Policy.pdf [Last accessed on 6 Jun 2024]

[2] Loeber JG,Zetterström RH.Neonatal screening in Europe revisited: an ISNS perspective on the current state and developments since 2010.Int J Neonatal Screen2021;7:15

[3] Assessing the policy and access environment across European countries for SMA patients: identifying key areas for improvement. Available from: https://smatracker.eu/static/da46a45ac8edb35da49fad104f8eaafd/Tracker_of_Policy_and_Access_Environment_for_SMA_Patients_de4d7ac1c0.pdf [Last accessed on 6 Jun 2024]

[4] Gowda VL,Jungbluth H.New treatments in spinal muscular atrophy.Arch Dis Child2023;108:511-7

[5] De Vivo DC,Swoboda KJ.Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: interim efficacy and safety results from the phase 2 NURTURE study.Neuromuscul Disord2019;29:842-56

[6] Spinal muscular atrophy. Available from: https://smatracker.eu/what-is-spinal-muscular-atrophy [Last accessed on 6 Jun 2024]

[7] Keinath MC,Prior TW.Spinal muscular atrophy: mutations, testing, and clinical relevance.Appl Clin Genet2021;14:11-25 PMCID:PMC7846873

[8] Finkel RS,Darras BT.Nusinersen versus sham control in infantile-onset spinal muscular atrophy.N Engl J Med2017;377:1723-32

[9] Jablonka S,Sendtner M.Therapy development for spinal muscular atrophy: perspectives for muscular dystrophies and neurodegenerative disorders.Neurol Res Pract2022;4:2 PMCID:PMC8725368

[10] SPR1NT: an open-label, single-arm clinical trial of presymptomatic patients with SMA. Available from: https://www.zolgensma-hcp.com/clinical-experiences/spr1nt-trial-efficacy/ [Last accessed on 6 Jun 2024]

[11] #MDA2022 - Newborns treated with evrysdi standing. Available from: https://smanewstoday.com/news/mda-2022-presymptomatic-babies-treated-evrysdi-standing-walking-one-year-rainbowfish-trials/ [Last accessed on 6 Jun 2024]

[12] Mercuri E,Baranello G.Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial.Lancet Neurol2021;20:832-41

[13] Finkel R,Vlodavets D.FP.24 RAINBOWFISH: preliminary efficacy and safety data in risdiplam-treated infants with presymptomatic spinal muscular atrophy (SMA).Neuromuscul Disord2022;32:S85-6

[14] Antonaci L,Mercuri E.New therapies for spinal muscular atrophy: where we stand and what is next.Eur J Pediatr2023;182:2935-42 PMCID:PMC10354145

[15] Chaytow H,Huang YT.Spinal muscular atrophy: from approved therapies to future therapeutic targets for personalized medicine.Cell Rep Med2021;2:100346 PMCID:PMC8324491

[16] Wilson JMG. Principles and practice of screening for disease. 1968. Available from: https://niercheck.nl/wp-content/uploads/2019/06/Wilson-Jungner-1968.pdf [Last accessed on 6 Jun 2024]

[17] Feldkötter M,Wirth R,Wirth B.Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.Am J Hum Genet2002;70:358-68 PMCID:PMC419987

[18] Cances C,Comi GP.Natural history of type 1 spinal muscular atrophy: a retrospective, global, multicenter study.Orphanet J Rare Dis2022;17:300 PMCID:PMC9336055

[19] Annoussamy M,Daron A.Natural history of type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study.Ann Clin Transl Neurol2021;8:359-73

[20] Schorling DC,Kirschner J.Advances in treatment of spinal muscular atrophy - new phenotypes, new challenges, new implications for care.J Neuromuscul Dis2020;7:1-13 PMCID:PMC7029319

[21] Dangouloff T,Beaudart C,Hiligsmann M.Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments.Orphanet J Rare Dis2021;16:47 PMCID:PMC7824917

[22] SMA NBS Alliance. Spinal muscular atrophy: screen at birth, save lives. 2021. Available from: http://www.eamda.eu/wp-content/uploads/2021/05/Spinal_muscular_atrophy_Screen_at_birth_save_lives_Whitepaper_SMA_NBS_Alliance_v1_26March21.pdf [Last accessed on 6 Jun 2024]

[23] Morbidity and Mortality Weekly Report. CDC grand rounds: newborn screening and improved outcomes. 2012. Available from: https://www.cdc.gov/mmwr/preview/mmwrhtml/mm6121a2.htm [Last accessed on 6 Jun 2024]

[24] IQWIG-Bericht - Nr. 891. Neugeborenenscreening auf 5q-assoziierte spinale Muskelatrophie. Available from: https://www.iqwig.de/download/s18-02_neugeborenenscreening-auf-5q-assoziierte-sma_abschlussbericht_v1-0.pdf [Last accessed on 6 Jun 2024]

[25] Boemer F,Dideberg V.Newborn screening for SMA in Southern Belgium.Neuromuscul Disord2019;29:343-9

[26] Chen X,French CE.Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.Genet Med2020;22:945-53 PMCID:PMC7200598

[27] WEBINAR. Newborn screening techniques for SMA. Available from: https://www.youtube.com/watch?v=Jh0iJLL_7Hs [Last accessed on 6 Jun 2024]

[28] EURORDIS Rare Diseases Europe. Available from: https://www.eurordis.org/rare-barometer/english/ [Last accessed on 6 Jun 2024]

[29] Rare disease patients’ opinion on the future of rare diseases: a rare barometer survey for the rare 2030 foresight study. Available from: https://download2.eurordis.org/rbv/rare2030survey/reports/RARE2030_survey_public_report_en.pdf [Last accessed on 6 Jun 2024]

[30] Global leaders convene in London: advancing newborn sequencing on an international scale. 2023. Available from: https://genomes2people.medium.com/global-leaders-convene-in-london-advancing-newborn-sequencing-on-an-international-scale-590c8af350d7 [Last accessed on 6 Jun 2024]

[31] ICoNS. Available from: https://www.iconseq.org/publications [Last accessed on 6 Jun 2024]

[32] Newborn screening: toward a uniform screening panel and system. Available from: https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/newborn-uniform-screening-panel.pdf [Last accessed on 6 Jun 2024]

[33] Weidlich D,Kausar I,Bischof M.Cost-effectiveness of newborn screening for spinal muscular atrophy in England.Neurol Ther2023;12:1205-20 PMCID:PMC10310612

[34] Velikanova R,Bischof M,Postma M.Cost-effectiveness of newborn screening for spinal muscular atrophy in The Netherlands.Value Health2022;25:1696-704

[35] Dangouloff T,Stevenson MD.Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium.Neuromuscul Disord2024;34:61-7

[36] Liu G,Mollin A.Comparison of pharmaceutical properties and biological activities of prednisolone, deflazacort, and vamorolone in DMD disease models.Hum Mol Genet2024;33:211-23 PMCID:PMC10800023

[37] Novartis announces landmark EU approval for one-time gene therapy Luxturna® to restore vision in people with rare inherited retinal disease. 2018. Available from: https://www.novartis.com/news/media-releases/novartis-announces-landmark-eu-approval-one-time-gene-therapy-luxturna-restore-vision-people-rare-inherited-retinal-disease [Last accessed on 6 Jun 2024]

[38] World Health Organization. Standards for improving the quality of care for small and sick newborns in health facilities. Available from: https://iris.who.int/bitstream/handle/10665/334126/9789240010765-eng.pdf?sequence=1 [Last accessed on 6 Jun 2024]

[39] EURORDIS Rare Diseases Europe. Key principles for newborn screening. Available from: https://download2.eurordis.org/documents/pdf/eurordis_nbs_position_paper.pdf [Last accessed on 6 Jun 2024]

[40] Health Resources & Services Administration. Recommended uniform screening panel. Available from: https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp [Last accessed on 6 Jun 2024]