Burden of disease of spinal muscular atrophy linked to chromosome 5q (5q-SMA) in Colombia

References

• European Medicine Agency (EMA). Briefing document to the clinical trial readiness in Spinal Muscular Atrophy (SMA) SMA Europe, TREAT-NMD and European Medicines Agency Meeting. 2016 [ cited 1-59 p]. https://www.ema.europa.eu/en/documents/other/briefing-document-clinical-trial-readiness-spinal-muscular-atrophy-sma-sma-europe-treat-nmd-european_en.pdf
   Google Scholar
• Bodamer O. Spinal muscular atrophy. UpToDate. 2022;29:1–36.
   Google Scholar
• Cure SMA. Best practices for physical therapists & clinical evaluators in spinal muscular atrophy (SMA). Recommendations to support the effective conduct of clinical trial in SMA. Families of Spinal Muscular Atrophy; 2021. https://www.curesma.org/wp-content/uploads/2021/09/Clinical-Evaluators-Best-Practices-13-August-2021.pdf
   Google Scholar
• Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurol Clin. 2015;33(4):831–846.
   PubMed Web of Science ®Google Scholar
• Eggermann K, Gläser D, Abicht A, et al. Spinal muscular atrophy (5qSMA): best practice of diagnostics, newborn screening and therapy. medizinische genetik. 2020;32(3):263–272.
   Web of Science ®Google Scholar
• Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders. 2018;28(2):103–115.
   PubMed Web of Science ®Google Scholar
• Chung B, Wong V, Ip P. Prevalence of neuromuscular diseases in Chinese children: a study in southern China. J Child Neurol. 2003;18(3):217–219.
   PubMed Web of Science ®Google Scholar
• Zaldívar T, Montejo Y, Acevedo AM, et al. Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population. Neurology. 2005;65(4):636–638.
   PubMed Web of Science ®Google Scholar
• Okamoto K, Motoki T, Saito I, et al. Survey of patients with spinal muscular atrophy on the island of Shikoku, Japan. Brain Dev. 2020;42(8):594–602.
   PubMed Web of Science ®Google Scholar
• Norwood FL, Harling C, Chinnery PF, et al. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. 2009;132(Pt 11):3175–3186.
   PubMedGoogle Scholar
• Verhaart IEC, Robertson A, Leary R, et al. A multi-source approach to determine SMA incidence and research ready population. J Neurol. 2017;264(7):1465–1473.
   PubMed Web of Science ®Google Scholar
• Oskoui M, Levy G, Garland CJ, et al. The changing natural history of spinal muscular atrophy type 1. Neurology. 2007;69(20):1931–1936.
   PubMed Web of Science ®Google Scholar
• Ge X, Bai J, Lu Y, et al. The natural history of infant spinal muscular atrophy in China: a study of 237 patients. J Child Neurol. 2011;27(4):471–477.
   PubMed Web of Science ®Google Scholar
• Belter L, Cook SF, Crawford TO, et al. An overview of the Cure SMA membership database: highlights of key demographic and clinical characteristics of SMA members. J Neuromuscul Dis. 2018;5(2):167–176.
   PubMedGoogle Scholar
• Wijngaarde CA, Stam M, Otto LAM, et al. Population-based analysis of survival in spinal muscular atrophy. Neurology. 2020;94(15):e1634–44.
   PubMed Web of Science ®Google Scholar
• Viscidi E, Juneja M, Wang J, et al. Comparative all-cause mortality among a large population of patients with spinal muscular atrophy versus matched controls. Neurol Ther. 2021;11:449–457.
   PubMed Web of Science ®Google Scholar
• Costa J, Coelho T, Moreno T, et al. Custo e Carga da Atrofia Muscular Espinhal em Portugal. Sinapse. 2021;21(4): 212–222 .
   Google Scholar
• Paracha N, Hudson P, Mitchell S, et al. Systematic literature review to assess the cost and resource use associated with spinal muscular atrophy management. Pharmacoeconomics. 2022;40:S11–38.
   PubMed Web of Science ®Google Scholar
• Dangouloff T, Botty C, Beaudart C, et al. Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments. Orphanet J Rare Diseases. 2021;16(1):1–16.
   PubMed Web of Science ®Google Scholar
• Valencia HD, Rendón Muñoz J, Pineda N, et al. Características clínicas de los pacientes menores de 18 años con atrofia muscular espinal en Medellín, 2008-2013. Acta Neurológica Colombiana. 2016;32:9–17.
   Google Scholar
• Bolaños Camacho XE Caracterización funcional de pacientes con Atrofia Muscular Espinal valorados en instituto de rehabilitación de Bogotá, Colombia, entre los años 2009 a 2019. 2020.
   Google Scholar
• Cardona N, Ocampo SJ, Estrada JM, et al. Caracterización clínica y funcional de pacientes con atrofia muscular espinal en el centro-occidente colombiano. Biomédica. 2022;42:89–99.
   PubMedGoogle Scholar
• Dangouloff T, Vrščaj E, Servais L, et al. Newborn screening programs for spinal muscular atrophy worldwide: where we stand and where to go. Neuro Disord. 2021;31(6):574–582.
   PubMed Web of Science ®Google Scholar
• Choconta L, Cortes A, Pardo N, et al. Lineamientos para el desarrollo de una estrategia de uso adecuado de Nusinersen en Atrofia Muscular Espinal (incluyendo el perfil de seguridad). Instituto de Evaluación Tecnológica en Salud; 2019.
   Google Scholar
• Vásquez E, Lasalvia P, Suárez F, et al. EE397 budget impact analysis of risdiplam for the treatment of spinal muscular atrophy in Colombia. Value Health. 2022;25(12):S133.
   PubMedGoogle Scholar
• World Health Organization (WHO). In: WHO methods and data sources for global burden of disease estimates 2000-2019. Geneva: World Health Organization; 2020.
   Google Scholar
• Munsat TL, Davies KE. International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscular Disorders. 1992;2(5–6):423–428.
   PubMed Web of Science ®Google Scholar
• Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype. Eur J Paediatr Neurol. 1999;3(2):49–51.
   PubMedGoogle Scholar
• Zerres K, Rudnik-Schoneborn S, Forkert R, et al. Genetic basis of adult-onset spinal muscular atrophy. Lancet. 1995;346:1162.
   PubMed Web of Science ®Google Scholar
• Ministerio de Salud y de la Protección Social (MSPS). Resolución 2048 de 2015. 2015.
   Google Scholar
• Departamento Administrativo Nacional de Estadística (DANE). Serie Nacional de población por área sexo y edad para el periodo 2005-2070 2021 [Oct 3, 2021]. Available from: https://www.dane.gov.co/index.php/estadisticas-por-tema/demografia-y-poblacion/proyecciones-de-poblacion
   Google Scholar
• Ministerio de Salud y de la Protección Social (MSPS). Sistema Integrado de Información de la Protección Social (SISPRO) 2022 [updated Jul 26, 2022]. Available from
   Google Scholar
• Bogeda de datos Sispro: Cubo de Registro Nacional de Enfermedades Huérfanas (RNEH) [Internet]. 2022. Available from: https://www.sispro.gov.co/Pages/Home.aspx
   Google Scholar
• Instituto Nacional de Salud (INS). Informes de Evento: Enfermedades huérfanas-raras, 2018-2021 2022 [Mar 18, 2022]. Available from: https://www.ins.gov.co/buscador-eventos/Paginas/Info-Evento.aspx
   Google Scholar
• Instituto Nacional de Salud (INS). Protocolo de vigilancia en Salud Pública de enfermedades huérfanas-raras. Versión 5. 2022 [cited Jun 15, 2022]. Available from: https://www.ins.gov.co/buscador-eventos/Paginas/Fichas-y-Protocolos.aspx
   Google Scholar
• Instituto Nacional de Salud (INS). Anexo Protocolo de vigilancia en Salud Pública de enfermedades huérfanas-raras. 2022 [cited Jun 15, 2022]. Available from
   Google Scholar
• Rohatgi AW. 4.5. Location: Pacifica; 2021.
   Google Scholar
• Liu N, Zhou Y, Lee JJ. IPDfromKM: reconstruct individual patient data from published Kaplan-Meier survival curves. BMC Med Res Methodol. 2021;21(1):1–22.
   PubMed Web of Science ®Google Scholar
• Departamento Administrativo Nacional de Estadística (DANE). Estimaciones del cambio demográfico: Tablas de vida completas y abreviada por sexo y área a nivel nacional 2018-2070 y departamental 2018-2050 2022 [updated Oct 9, 2020]. Available from: https://www.dane.gov.co
   Google Scholar
• Barendregt JJ, Van Oortmarssen GJ, Vos T, et al. A generic model for the assessment of disease epidemiology: the computational basis of DisMod II. Popul Health Metr. 2003;1(1):1–8.
   PubMedGoogle Scholar
• Pierzchlewicz K, Kępa I, Podogrodzki J, et al. Spinal Muscular Atrophy: The Use of Functional Motor Scales in the Era of Disease-Modifying Treatment. Child Neurol Open. 2021;8:1–9.
   Google Scholar
• Iwabe C, Nucci A, Pfeilsticker BHM, et al. Motor Function Measure Scale (MFM): New Instrument for Follow-Up Brazilian Patients with Neuromuscular Disease. 2012 [cited Jun 6, 2022]. In: Muscular Dystrophy [Internet]. [Internet]. London: IntechOpen, [cited Jun 6, 2022]; p. [303–19]. Available from: https://www.intechopen.com/chapters/36740
   Google Scholar
• Wijngaarde CA, Stam M, Otto LAM, et al. Muscle strength and motor function in adolescents and adults with spinal muscular atrophy. Neurology. 2020;95(14):e1988–98.
   PubMed Web of Science ®Google Scholar
• Vuillerot C, Payan C, Iwaz J, et al. Responsiveness of the motor function measure in patients with spinal muscular atrophy. Arch Phys Med Rehabil. 2013;94(8):1555–1561.
   PubMed Web of Science ®Google Scholar
• Wijngaarde CA, Veldhoen ES, van Eijk RPA, et al. Natural history of lung function in spinal muscular atrophy. Orphanet J Rare Dis. 2020;15(1):1–11.
   PubMed Web of Science ®Google Scholar
• Merlini L, Granata C, Bonfiglioli S, et al. Scoliosis in spinal muscular atrophy: natural history and management. Dev Med Child Neurol. 1989;31(4):501–508.
   PubMed Web of Science ®Google Scholar
• Wijngaarde CA, Brink RC, de Kort FAS, et al. Natural course of scoliosis and lifetime risk of scoliosis surgery in spinal muscular atrophy. Neurology. 2019;93(2):e149–58.
   PubMed Web of Science ®Google Scholar
• Souza PVS, Pinto W, Ricarte A, et al. Clinical and radiological profile of patients with spinal muscular atrophy type 4. Eur J Neurol. 2020;28(2):609–619.
   PubMed Web of Science ®Google Scholar
• Wasserman HM, Hornung LN, Stenger PJ, et al. Low bone mineral density and fractures are highly prevalent in pediatric patients with spinal muscular atrophy regardless of disease severity. Neuromuscular Disorders. 2017;27(4):331–337.
   PubMed Web of Science ®Google Scholar
• Amin S, Achenbach SJ, Atkinson EJ, et al. Trends in fracture incidence: a population-based study over 20 years. J Bone Miner Res. 2014;29(3):581–589.
   PubMed Web of Science ®Google Scholar
• Wadman RI, van Bruggen HW, Witkamp TD, et al. Bulbar muscle MRI changes in patients with SMA with reduced mouth opening and dysphagia. Neurology. 2014;83(12):1060–1066.
   PubMed Web of Science ®Google Scholar
• Global Burden of Disease Collaborative Network. Global Burden of Disease Study 2019 (GBD 2019) Disability Weights. Seattle, United States of America: Institute for Health Metrics and Evaluation (IHME); 2020 [Jan 30, 2021]. Available from: https://ghdx.healthdata.org/record/ihme-data/gbd-2019-disability-weights
   Google Scholar
• Salomon JA, Haagsma JA, Davis A, et al. Disability weights for the Global Burden of Disease 2013 study. Lancet Glob Health. 2015;3(11):e712–23.
   PubMed Web of Science ®Google Scholar
• D GB. Diseases Injuries Collaborators. Supplement to: Global burden of 369 diseases and injuries in 204 countries and territories, 1990-2019: a systematic analysis for the Global Burden of Disease Study 2019. Lancet. 2020;396(10258):1204–1222.
   PubMedGoogle Scholar
• Zappa G, LoMauro A, Baranello G, et al. Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1. J Neurodev Disord. 2021;13(1):1–11.
   PubMed Web of Science ®Google Scholar
• Horng M-H, Kuok C-P, M-J F, et al. Cobb Angle Measurement of Spine from X-Ray Images Using Convolutional Neural Network. Comput Math Methods Med. 2019;2019:1–18.
   Web of Science ®Google Scholar
• Fujak A, Kopschina C, Forst R, et al. Fractures in proximal spinal muscular atrophy. Arch Orthop Trauma Surg. 2010;130(6):775–780.
   PubMed Web of Science ®Google Scholar
• Murray CJ. Quantifying the burden of disease: the technical basis for disability-adjusted life years. Bull World Health Organ. 1994;72(3):429–445.
   PubMed Web of Science ®Google Scholar
• Institute for Health Metrics and Evaluation (IHME). GBD Compare Data Visualization. Seattle WA: IHME, University of Washington, 2016; 2022 Jun 15, 2022. Available from https://vizhub.healthdata.org/gbd-compare/
   Google Scholar
• GBD 2016. Motor Neuron Disease Collaborators. Global, regional, and national burden of motor neuron diseases 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016. Lancet Neurol. 2018;17(12):1083–1097.
   PubMed Web of Science ®Google Scholar
• Rose L, McKim D, Leasa D, et al. Trends in incidence, prevalence, and mortality of neuromuscular disease in Ontario, Canada: A population-based retrospective cohort study (2003-2014). PLoS ONE. 2019;14(3):1–12.
   Web of Science ®Google Scholar
• Klug C, Schreiber-Katz O, Thiele S, et al. Disease burden of spinal muscular atrophy in Germany. Orphanet J Rare Dis. 2016;11(1):1–9.
   PubMedGoogle Scholar
• Aranda-Reneo I, Peña-Longobardo LM, Oliva-Moreno J, et al. The Burden of Spinal Muscular Atrophy on Informal Caregivers. Int j environ res public health. 2020;17(23):1–12.
   Web of Science ®Google Scholar
• Wirth B, Karakaya M, Kye MJ, et al. Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next. Annu Rev Genomics Hum Genet. 2020;21:231–261.
   PubMed Web of Science ®Google Scholar
• Chung BH, Wong VC, Ip P. Spinal muscular atrophy: survival pattern and functional status. Pediatrics. 2004;114(5):e548–e553.
   PubMed Web of Science ®Google Scholar
• Tassie B, Isaacs D, Kilham H, et al. Management of children with spinal muscular atrophy type 1 in Australia. J Paediatr Child Health. 2013;49(10):815–819.
   PubMed Web of Science ®Google Scholar
• Vaidla E, Talvik I, Kulla A, et al. Descriptive epidemiology of spinal muscular atrophy type I in Estonia. Neuroepidemiology. 2006;27(3):164–168.
   PubMed Web of Science ®Google Scholar
• Kimizu T, Ida S, Okamoto K, et al. Spinal muscular atrophy: Diagnosis, incidence, and newborn screening in Japan. Int J Neonatal Screen. 2021;7(3):1–12.
   Web of Science ®Google Scholar
• Jedrzejowska M, Milewski M, Zimowski J, et al. Incidence of spinal muscular atrophy in Poland–more frequent than predicted?. Neuroepidemiology. 2010;34(3):152–157.
   PubMed Web of Science ®Google Scholar
• Okamoto K, Fukuda M, Saito I, et al. Incidence of infantile spinal muscular atrophy on Shikoku Island of Japan. Brain Dev. 2019;41(1):36–42.
   PubMed Web of Science ®Google Scholar
• Ludvigsson P, Olafsson E, Hauser WA. Spinal muscular atrophy. Incidence in Iceland. Neuroepidemiology. 1999;18(5):265–269.
   PubMed Web of Science ®Google Scholar
• Sugarman EA, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet. 2012;20(1):27–32.
   PubMed Web of Science ®Google Scholar
• Verhaart IEC, Robertson A, Wilson IJ, et al. Supplement: Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet J Rare Dis. 2017;12(1):1–15.
   PubMedGoogle Scholar
• Smith M, Calabro V, Chong B, et al. Population screening and cascade testing for carriers of SMA. Eur J Hum Genet. 2007;15(7):759–766.
   PubMed Web of Science ®Google Scholar
• Kekou K, Svingou M, Sofocleous C, et al. Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years. J Neuromuscul Dis. 2020;7(3):247–256.
   PubMedGoogle Scholar
• König K, Pechmann A, Thiele S, et al. De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany. Orphanet J Rare Dis. 2019;14(1):1–7.
   PubMedGoogle Scholar
• (WHO) WHO. ICD-11: International Classification of Diseases 11th Revision 2022 [Jun 24, 2022]. Available from: https://icd.who.int/en
   Google Scholar
• Bodega de datos Sispro: Cubo de prescripciones Mipres [Internet]. 2022 [cited Jun 21, 2022]. Available from
   Google Scholar
• Lemoine TJ, Swoboda KJ, Bratton SL, et al. Spinal muscular atrophy type 1: are proactive respiratory interventions associated with longer survival?. Pediatr Crit Care Med. 2012;13(3):161–165.
   Web of Science ®Google Scholar