Pediatrics, Perinatology and Child Health; Developmental Neuroscience; Neurology (clinical)
Abstract :
[en] AIM: To compare the societal financial costs and quality of life (QoL) of untreated patients with spinal muscular atrophy (SMA) and treated patients identified because they presented symptoms or were identified by early testing (sibling or newborn screening).
METHOD: Data from two different sources were used: data collected prospectively in untreated patients from 2016 to 2018 and data collected during a prospective follow-up study from 2018 to 2021. Patients or their caregiver completed a questionnaire that included questions on direct medical and non-medical costs, indirect non-medical costs, and health-related QoL.
RESULTS: Data (median; range) were available for 149 patients (93 untreated - 10 years; 2 years-59 years), 42 patients (6 years 3 months; 9 months-58 years) treated after presenting with symptoms, and 14 patients (1 year 7 months; 5 months-2 years) treated after early diagnosis. Total costs were lower in untreated patients due to the high cost of drugs used in treated patients. Costs were lower for treated patients who were identified by early testing than for treated patients identified because they presented with symptoms. In all groups, patients with two SMN2 copies had higher costs than those with more copies.
INTERPRETATION: Early patient identification and treatment offer the opportunity to reduce the total societal costs of SMA where treatments are available for presymptomatic and postsymptomatic patients. [es] COSTO ECONÓMICO Y CALIDAD DE VIDA DE PACIENTES CON ATROFIA MUSCULAR ESPINAL IDENTIFICADOS POR SÍNTOMAS O CRIBADO NEONATAL: OBJETIVO: Comparar los costos financieros sociales y la calidad de vida (QoL) de pacientes no tratados con atrofia muscular espinal (AME) y pacientes tratados, identificados porque presentaron síntomas o fueron identificados mediante pruebas tempranas (cribado de hermanos o recién nacidos). MÉTODO: Se utilizaron datos de dos fuentes diferentes: datos recopilados prospectivamente en pacientes no tratados de 2016 a 2018 y datos recopilados durante un estudio de seguimiento prospectivo de 2018 a 2021. Los pacientes o sus cuidadores completaron un cuestionario que incluía preguntas sobre cuestiones médicas y no médicas directas. -costos médicos, costos indirectos no médicos y calidad de vida relacionada con la salud. RESULTADOS: Los datos (mediana; rango) estaban disponibles para 149 pacientes (93 sin tratamiento - 10 años; 2 años - 59 años), 42 pacientes (6 años 3 meses; 9 meses - 58 años) tratados después de presentar síntomas y 14 pacientes (1 año 7 meses; 5 meses-2 años) tratados tras un diagnóstico precoz. Los costos totales fueron menores en los pacientes no tratados debido al alto costo de los medicamentos utilizados en los pacientes tratados. Los costos fueron más bajos para los pacientes tratados que fueron identificados mediante pruebas tempranas que para los pacientes tratados identificados porque presentaban síntomas. En todos los grupos, los pacientes con dos copias de SMN2 tuvieron costos más altos que aquellos con más copias. INTERPRETACIÓN: La identificación y el tratamiento tempranos de los pacientes ofrecen la oportunidad de reducir los costos sociales totales de la AME, en lugares donde los tratamientos están disponibles para pacientes presintomáticos y postsintomáticos.
Disciplines :
Neurology Pediatrics
Author, co-author :
Dangouloff, Tamara ; Université de Liège - ULiège > Département des sciences cliniques > Neuropédiatrie
Hiligsmann, Mickael; Department of Health Services Research, Care and Public Health Research Institute, Maastricht University, Maastricht, the Netherlands
Deconinck, Nicolas; Neuromuscular Reference Center and Paediatric Neurology Department, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium
D'Amico, Adèle; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Istituto di Ricovero e Cura a Carattere Scientifico Bambino Gesù Children's Hospital, Rome, Italy
Seferian, Andreea M; Institute of Myology, GH, Paris, France
Boemer, François ; Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Servais, Laurent ; Centre Hospitalier Universitaire de Liège - CHU > > Service de pédiatrie ; Muscular Dystrophy UK Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, UK
Language :
English
Title :
Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening.
We thank the patients and their caregiver who took the time to complete our questionnaires. The NatHis‐SMA study was funded by Hoffmann‐La‐Roche and the Institute of Myology. We thank all investigators and staff involved in this study. The authors thank Jackie Wyatt for language editing.
Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurol Clin. 2015;33(4):831–46.
Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet J Rare Dis. 2017;12(1):124.
D'Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis. 2011;6(1):71.
Calucho M, Bernal S, Alias L, March F, Vencesla A, Rodriguez-Alvarez FJ, et al. Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscul Disord. 2018;28(3):208–15.
Wijngaarde CA, Stam M, Otto LAM, van Eijk RPA, Cuppen I, Veldhoen ES, et al. Population-based analysis of survival in spinal muscular atrophy. Neurology. 2020;94(15):e1634–44.
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103–15.
Dangouloff T, Vrščaj E, Servais L, Osredkar D. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go. Neuromuscul Disord. 2021;31(6):574–82.
Ramdas S, Servais L. New treatments in spinal muscular atrophy: an overview of currently available data. Expert Opin Pharmacother. 2020;21(3):307–15.
Dangouloff T, Botty C, Beaudart C, Servais L, Hiligsmann M. Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments. Orphanet J Rare Dis. 2021;16(1):47.
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. 2016;11(1):58.
López-Bastida J, Peña-Longobardo LM, Aranda-Reneo I, Tizzano E, Sefton M, Oliva-Moreno J, et al. Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain. Orphanet J Rare Dis. 2017;12(1):141.
Landfeldt E, Pechmann A, McMillan HJ, Lochmüller H, Sejersen T. Costs of Illness of Spinal Muscular Atrophy: A Systematic Review. Vol. 19, Applied health economics and health policy. 2021. p. 501–20.
Dangouloff T, Servais L. Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives. Ther Clin Risk Manag. 2019;15:1153–61.
Dangouloff T, Burghes A, Tizzano EF, Servais L. 244th ENMC International Workshop: Newborn screening in Spinal Muscular Atrophy May 10-12, 2019, Hoofdorp, The Netherlands. Neuromuscul Disord. 2020;30(1):93–103.
Vill K, Schwartz O, Blaschek A, Glaser D, Nennstiel U, Wirth B, et al. Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years. Orphanet J Rare Dis. 2021;16(1)153.
D'Silva AM, Kariyawasam DST, Best S, Wiley V, Farrar MA. Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme. Dev Med Child Neurol. 2021;64(5):625–632.
De Vivo DC, Bertini E, Swoboda KJ, Hwu W-L, Crawford TO, Finkel RS, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. Neuromuscul Dis. 2019;29(11):842–856.
Annoussamy M, Seferian AM, Daron A, Péréon Y, Cances C, Vuillerot C, et al. Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study. Ann Clin Transl Neurol. 2021;8(2):359–73.
Chabanon A, Seferian AM, Daron A, Pereon 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. 2018;13(7):e0201004.
Bouckaert N, Gerkens S, Devriese S, Cleemput I. An EQ-5D-5L value set for Belgium – How to value health-related quality of life?. KCE Reports. Brussels: Belgian Health Care Knowledge Centre (KCE); 2021.
Horsman J, Furlong W, Feeny D, Torrance G. The Health Utilities Index (HUI): concepts, measurement properties and applications. Heal Qual Life Outcomes. 2003;1:54.
Boemer F, Caberg J-H, Beckers P, Dideberg V, di Fiore S, Bours V, et al. Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium. Sci Rep. 2021;11(1):19922.
Pera MC, Coratti G, Berti B, D'Amico A, Sframeli M, Albamonte E, et al. Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? PLoS One. 2020;15(3):e0230677.
Peña-Longobardo LM, Aranda-Reneo I, Oliva-Moreno J, Litzkendorf S, Durand-Zaleski I, Tizzano E, et al. The Economic Impact and Health-Related Quality of Life of Spinal Muscular Atrophy. An Analysis across Europe. Int J Env Res Public Heal. 2020;17(16):5640.
Droege M, Sproule D, Arjunji R, Gauthier-Loiselle M, Cloutier M, Dabbous O. Economic burden of spinal muscular atrophy in the United States: a contemporary assessment. J Med Econ. 2019;23(1):1–10.
Lee Jr. M, Franca UL, Graham RJ, McManus ML, França UL, Graham RJ, et al. Pre-Nusinersen Hospitalization Costs of Children With Spinal Muscular Atrophy. Pediatr Neurol. 2019;92:3–5.
Armstrong EP, Malone DC, Yeh WS, Dahl GJ, Lee RL, Sicignano N. The economic burden of spinal muscular atrophy. J Med Econ. 2016;19(8):822–6.
Shih ST, Farrar MA, Wiley V, Chambers G. Newborn screening for spinal muscular atrophy with disease-modifying therapies: a cost-effectiveness analysis. J Neurol Neurosurg Psychiatry. 2021;92(12):1296–304.
Landfeldt E, Edstrom J, Sejersen T, Tulinius M, Lochmuller H, Kirschner J. Quality of life of patients with spinal muscular atrophy: A systematic review. Eur J Paediatr Neurol. 2019;23(3):347–56.
