Ethics code: IR.IUMS.REC.1398.921
1- Health Information Management and Medical Informatics Department, School of Allied Medical Sciences, Tehran University of Medical Sciences, Tehran, Iran
2- Department of Health Information Management, School of Health Management and Information Sciences, Iran University of Medical Sciences, Tehran, Iran
2- Department of Health Information Management, School of Health Management and Information Sciences, Iran University of Medical Sciences, Tehran, Iran
Abstract: (36 Views)
Objective(s): Spinal muscular atrophy is a rare genetic disease of neuromuscular and it is considered the main cause of death of newborns, which affects spinal motor neurons. The variety of degrees of this disease and the lack of a complete and integrated information recording system hinder the quality of providing care, early diagnosis and timely treatment. Therefore, the disease registry is considered as a supplement to the patient's medical record. The purpose of this research is to provide a model of spinal muscular atrophy registry in Iran.
Methods: First, using a descriptive-comparative method, the characteristics of national registries (Pakistan, Czech Republic, Australia, and Canada) and international registries (Translational Research in Europe, Assessment & Treatment of Neuromuscular Diseases (TREAT-NMD), Smart Care, and RESTORE) for spinal muscular atrophy were examined and compared. Then, the initial model proposed for the spinal muscular atrophy registration system was designed for Iran and was validated by experts using the Delphi method in two rounds. The research community included 15 experts with expertise in medical informatics, health information management, neurologists and medical genetics. Finally, the cases that obtained more than 75% agreement were included in the final model and the cases less than 50% were removed from the model.
Results: Out of 79 components have been agreed by experts, 58 components in the first round of Delphi and five components in the second round of Delphi achieved a collective agreement of over 75 percent. Therefore, the final model of the spinal muscular atrophy registry in Iran included eight dimensions, and 63 components. The registry system characteristics for the final model were categorized into the following dimensions: objective, structure (registry type, implementation method and participating organizations), data source (primary and secondary), data collection (method, responsible, data collection location, and data registration criteria), data quality control (evaluation methods and data quality characteristics), security (data access and security methods), data analysis, and reporting and information dissemination (reporting methods, representation, and reporting intervals).
Conclusion: It is expected that the presented model can be effective in improving the outcome management of spinal muscular atrophy disease, providing better services, achieving an integrated information system and facilitating research.
Methods: First, using a descriptive-comparative method, the characteristics of national registries (Pakistan, Czech Republic, Australia, and Canada) and international registries (Translational Research in Europe, Assessment & Treatment of Neuromuscular Diseases (TREAT-NMD), Smart Care, and RESTORE) for spinal muscular atrophy were examined and compared. Then, the initial model proposed for the spinal muscular atrophy registration system was designed for Iran and was validated by experts using the Delphi method in two rounds. The research community included 15 experts with expertise in medical informatics, health information management, neurologists and medical genetics. Finally, the cases that obtained more than 75% agreement were included in the final model and the cases less than 50% were removed from the model.
Results: Out of 79 components have been agreed by experts, 58 components in the first round of Delphi and five components in the second round of Delphi achieved a collective agreement of over 75 percent. Therefore, the final model of the spinal muscular atrophy registry in Iran included eight dimensions, and 63 components. The registry system characteristics for the final model were categorized into the following dimensions: objective, structure (registry type, implementation method and participating organizations), data source (primary and secondary), data collection (method, responsible, data collection location, and data registration criteria), data quality control (evaluation methods and data quality characteristics), security (data access and security methods), data analysis, and reporting and information dissemination (reporting methods, representation, and reporting intervals).
Conclusion: It is expected that the presented model can be effective in improving the outcome management of spinal muscular atrophy disease, providing better services, achieving an integrated information system and facilitating research.
type of study: Descriptive |
Subject:
Social Determinants of Health
Received: 2024/07/2 | Accepted: 2025/07/1 | ePublished ahead of print: 2025/09/6
Received: 2024/07/2 | Accepted: 2025/07/1 | ePublished ahead of print: 2025/09/6
References
1. Lacaze P, Millis N, Fookes M, Zurynski Y, Jaffe A, Bellgard M, et al. Rare disease registries: A call to action. Internal Medicine Journal 2017;47:1075-9 [DOI:10.1111/imj.13528]
2. Gliklich RE, Dreyer NA, Leavy MB. Registries for evaluating patient outcomes: A user's guide. Rockville (MD): Agency for Healthcare Research and Quality (US); 2020. Available from:https://effectivehealthcare.ahrq.gov/sites/default/files/pdf/registries-evaluating-patient-outcomes-4th-edition.pdf. (Accessed May 30, 2021) [DOI:10.23970/AHRQEPCREGISTRIES4]
3. Vittozzi L, Gainotti S, Mollo E, Donati C, Taruscio D. A model for the european platform for rare disease registries. Public Health Genom 2013;16:299-304 [DOI:10.1159/000355935]
4. Coratti G, Ricci M, Capasso A, D'Amico A, Sansone V, Bruno C, et al. Prevalence of spinal muscular atrophy in the era of disease-modifying therapies: An Italian nationwide survey. Neurology 2023;100:522-8 [DOI:10.1212/WNL.0000000000201654]
5. Ashrafzadeh F, Sadr-Nabavi A, Asadian N, Akhondian J, Beiraghi Toosi M. Spinal muscular atrophy: A short review article. International Journal of Pediatrics 2014;2:211-5
6. Zuluaga-Sanchez S, Teynor M, Knight C, Thompson R, Lundqvist T, Ekelund M, et al. Cost effectiveness of nusinersen in the treatment of patients with infantile-onset and later-onset spinal muscular atrophy in sweden. Pharmacoeconomics 2019;37:845-65 [DOI:10.1007/s40273-019-00769-6]
7. Spring AM, Raimer AC, Hamilton CD, Schillinger MJ, Matera AG. Comprehensive modeling of spinal muscular atrophy in drosophila melanogaster. Frontiers in Molecular Neuroscience 2019;12:113 [DOI:10.3389/fnmol.2019.00113]
8. Kolb SJ, Kissel JT. Spinal muscular atrophy. Neurologic Clinics 2015;33:831-46 [DOI:10.1016/j.ncl.2015.07.004]
9. D'Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis 2011;6:71-80 [DOI:10.1186/1750-1172-6-71]
10. 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 Journal of Rare Diseases 2017;12:124-39 [DOI:10.1186/s13023-017-0671-8]
11. CADTH common drug reviews. Clinical review report: Nusinersen (Spinraza), Indication: Treatment of patients with 5q SMA. Ottawa (ON): Canadian Agency for Drugs and Technologies in Health 2019 https://www.cadth.ca/sites/default/files/cdr/clinical/sr0576-spinraza-resubmission-clinical-report.pdf.(Accessed April 11, 2023) [DOI:10.51731/cjht.2022.496]
12. Verhaart IEC, Robertson A, Leary R, McMacken G, Konig K, Kirschner J, et al. A multi-source approach to determine SMA incidence and research ready population. Journal of Neurology 2017;264:1465-73 [DOI:10.1007/s00415-017-8549-1]
13. Hasanzad M, Azad M, Kahrizi K, Saffar BS, Nafisi S, Keyhanidoust Z, et al. Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population. European Journal of Neurology 2010;17:160-2 [DOI:10.1111/j.1468-1331.2009.02693.x]
14. Salehi Z, Naghizadeh MM, Ezabadi SG, Ebrahimitirtashi A, Abbasi Kasbi N, Khodaie F, et al. Consanguineous marriage among familial multiple sclerosis subjects: A national registry-based study. Heliyon 2024 15;10:e32946 [DOI:10.1016/j.heliyon.2024.e32946]
15. Saadat M, Zarghami M. Consanguineous marriages among Iranian mandaeans living in south-west IRAN. Journal of Biosocial Science 2018;50:451-456 [DOI:10.1017/S0021932017000207]
16. Nejat Mahdieh.Consanguineous marriages and common mutations in Iran: Two key points to consider. Journal of Advances in Medical and Biomedical Research 2024; 32: 240-243
17. Mansouri V, Heidari M, Bemanalizadeh M, et al. the first report of iranian registry of patients with spinal muscular atrophy. Journal of Neuromuscular Diseases 2022;10:211-225 [DOI:10.3233/JND-221614]
18. Salvatore D, Buzzetti R, Baldo E, Furnari ML, Lucidi V, Manunza D, et al. An overview of international literature from cystic fibrosis registries. Journal of Cystic Fibrosis 2012;11:480-93 [DOI:10.1016/j.jcf.2012.07.005]
19. Boulanger V, Schlemmer M, Rossov S, Seebald A, Gavin P. Establishing patient registries for rare diseases: Rationale and challenges. Pharmaceutical Medicine 2020;34:185-9 [DOI:10.1007/s40290-020-00332-1]
20. Metzger J. Using computerized registries in chronic disease care Oakland: California HealthCare Foundation 2004 .Available from: https://collections.nlm.nih.gov/catalog/nlm:nlmuid-101244758-pdf .(Accessed Jul 12, 2019)
21. Vice chancellor for research & technology of IUMS secretariat of disease and health outcome registry. Guidelines for setting up and monitoring the disease and health outcome registration programs 2023; Available from: https://registry.iums.ac.ir/. [Persian] (Accessed May 30, 2022)
22. Vice Chancellor for Research of Tabriz University of Medical Sciences. The goals of nation program for disease registers and health outcome 2018 Available from: drc.tbzmed.ac.ir/Page/8/[Persian] (Accessed May 31, 2019)
23. Hamidi A. A survay on hospital-based diabetes registry in hospital affiliated Shahid Beheshti University of medical scienses [MSc thesis]. Tehran: Shahid Beheshti University of Medical Scienses, 2016 [Persian]
24. Aghazadeh J, Pirnejad H, Mohebbi I, Tabrizi AM, Heidari MH. Disease registry system in northwest of Iran: The first step forward in research progress with review of literature. Journal of Analytical Research in Clinical Medicine 2019;7: 70-74 [DOI:10.15171/jarcm.2019.014]
25. Mojarrab S, Rafei A, Akhondzadeh S, Jeddian A, Jafarpour M, Zendehdel K. Diseases and health outcomes registry systems in I.R. Iran: Successful initiative to improve public health programs, quality of care, and biomedical research. Archives of Iranian medicine 2017;20:696-703
26. Asadi F, Mirshekarlou SJ, Rahimi F, editors. A comparative study of the national infertility registry system and the proposed model for iran. Crescent Journal of Medical and Biological Sciences 2019; 6: 318-24
27. 27 Hammond EL, Youngs L, Bellgard M, Dawkins H. S.P.33 Australasian neuromuscular disease registry. Neuromuscular Disorders 2012;22:881 [DOI:10.1016/j.nmd.2012.06.258]
28. Murdoch children's research institute.The Australian neuromuscular disease 2019. Available from: https://www.australiannmdregistry.org.au/. (Accessed May 13, 2020)
29. Australasian neuromuscular network. Australian national spinal muscular atrophy registry 2019. Available from: https://www.Ann.Org.Au/registry-spinal-muscular-atrophy/.( Accessed May 13, 2020)
30. Wei Y, McCormick A, MacKenzie A, O'Ferrall E, Venance S, Mah JK, et al. The Canadian neuromuscular disease registry: Connecting patients to national and international research opportunities. Paediatrics and Child Health 2018;23:20-6 [DOI:10.1093/pch/pxx125]
31. Hodgkinson VL, Oskoui M, Lounsberry J, M'Dahoma S, Butler E, Campbell C, et al. A national spinal muscular atrophy registry for real-world evidence. Canadian Journal of Neurological Sciences 2020;47:1-6 [DOI:10.1017/cjn.2020.111]
32. Korngut L, Campbell C, Johnston M, Benstead T, Genge A, Mackenzie A, et al. The CNDR: Collaborating to translate new therapies for Canadians. Canadian Journal of Neurological Sciences 2013;40:698-704 [DOI:10.1017/S0317167100014943]
33. Vohanka S, Parmova O, Mazanec R, Vondracek P, Mrazova L, Haberlova J, et al. Czech national registries of hereditary neuromuscular disorders. Neuromuscular Disorders 2014;24:892 [DOI:10.1016/j.nmd.2014.06.326]
34. Vohanka S, Mazanec R, Pavlovska L, Brabec P. S.P.34 ready: The Czech national registry of myotonic disorders. Neuromuscular Disorders 2012;22:881-2 [DOI:10.1016/j.nmd.2012.06.259]
35. Brabec P, Vondráček P, Klimeš D, Baumeister S, Lochmüller H, Pavlík T, et al. Characterization of the DMD/BMD patient population in Czech Republic and Slovakia using an innovative registry approach. Neuromuscular Disorders 2009;19:250-4 [DOI:10.1016/j.nmd.2009.01.005]
36. MDA Pakistan. Muscular dystrophy registry of Pakistan 2019. Available from: https://mdrpakistan.com/. (Accessed May 26, 2020)
37. Ibrahim S, Moatter T, Saleem AF. Spinal muscular atrophy: Clinical spectrum and genetic mutations in Pakistani children. Neurology India 2012;60:294-8 [DOI:10.4103/0028-3886.98514]
38. Rodger S, Antonova V, Brabec P, Catlin N, Garami M, Gramsch K, et al. Care-NMD: The role of patient registries in an international study of care in duchenne muscular dystrophy. Neuromuscular Disorders 2012;22:880. [DOI:10.1016/j.nmd.2012.06.255]
39. TREAT-NMD neuromuscular network. Spinal Muscular Atrophy (SMA) Core Dataset 2020. Available from: https://treat-nmd.org/patient-registries/treat-nmd-core-datasets/sma-core-dataset. (Accessed May 20, 2020)
40. Rodrigues M, Bullivant J, Hodgkinson V, Straub V, Goemans N, Ambrosini A, et al. Collaborative data collection by TREAT-NMD registries to support post-marketing surveillance in spinal muscular atrophy 2019. Available From: https://treat-nmd-conference.org/conf/wp-content/uploads/2019/12/Rodrigues-poster_Day-1.pdf (Accessed May 20, 2020)
41. TREAT-NMD neuromuscular network. TREAT-NMD global database oversight committee - TGDOC 2019 Available from: https://treat-nmd.Org/patient-registries/what-are-the-treat-nmd-global-registries/treat-nmd-global-database-oversight-committee-tgdoc/.(Accessed May 20, 2020)
42. Humbertclaude V, Tuffery-Giraud S, Hamroun D, Desmet F, S B, M L, et al. TREAT-NMD global patients' registries: A unified global source of information about patients with neuromuscular diseases. Neuromuscular Disorders 2008;18:795 [DOI:10.1016/j.nmd.2008.06.244]
43. Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, et al. The TREAT-NMD Duchenne muscular dystrophy registries: Conception, design, and utilization by industry and academia. Human mutation 2013;34:1449-57 [DOI:10.1002/humu.22390]
44. Leary R, Oyewole AO, Bushby K, Aartsma-Rus A. Translational research in Europe for the assessment and treatment for neuromuscular disorders (TREAT-NMD). Neuropediatrics 2017;48:211-20 [DOI:10.1055/s-0037-1604110]
45. Pechmann A, König K, Bernert G, Schachtrup K, Schara U, Schorling D, et al. Smartcare - a platform to collect real-life outcome data of patients with spinal muscular atrophy. Orphanet Journal of Rare Diseases 2019;14:18 [DOI:10.1186/s13023-019-0998-4]
46. Deutsches Register Klinischer Studien. Longitudinal Data Collection from Patients with Spinal Muscular Atrophy: The SMArtCARE Database 2018 .Available from: https://www.drks.de/drks_web/navigate.do?navigationId=trial.HTML&TRIAL_ID=DRKS00012699.(Accessed May 20, 2020)
47. Pechmann A, Bernert G, Hagenacker T, Müller-Felber W, Schara U, Schwersenz I, et al. SMA: Registries, biomarkers & outcome measures P. 172 smartcare: Real-world-data collection of patients with spinal muscular atrophy. Neuromuscular Disorders 2020;30: S97 [DOI:10.1016/j.nmd.2020.08.174]
48. Finkel RS, Day JW, De Vivo DC, Kirschner J, Mercuri E, Muntoni F, et al. Restore: A prospective multinational registry of patients with genetically confirmed spinal muscular atrophy -rationale and study design. Journal of Neuromuscular Diseases 2020;7:145-52 [DOI:10.3233/JND-190451]
49. Servais L, Day J, De Vivo D, Kirschner J, Mercuri E, Muntoni F, et al. SMA: Registries, biomarkers & outcome measures: P.173 switching between disease-modifying therapies in patients with spinal muscular atrophy: Real-world data collected from the restore registry. Neuromuscular Disorders 2020;30:S97 [DOI:10.1016/j.nmd.2020.08.175]
50. Servais L, Day JW, De Vivo DC, Kirschner J, Mercuri E, Muntoni F, et al. Real-world treatment patterns and outcomes in patients with spinal muscular atrophy collected from the restore registry (2470). Neurology 2020;94:2470 [DOI:10.1212/WNL.94.15_supplement.2470]
51. Servais L, Day JW, De Vivo DC, Kirschner J, Mercuri E, Muntoni F, et al. Pnd18 the restore registry: A resource for measuring and improving spinal muscular atrophy outcomes. Value in Health Regional Issues 2019;19:S62 [DOI:10.1016/j.vhri.2019.08.348]
52. Aartsma-Rus A, Hoffman E, Bucella F, Flanigan K, Kirschner J, Kole A, et al. TREAT-NMD (translational research in Europe, assessment and treatment for neuromuscular disorders). Neuromuscular Disorders 2015;25:S271 [DOI:10.1016/j.nmd.2015.06.309]
53. Shenoy AM. Registry participation in neuromuscular disease. Continuum (Minneapolis, Minn) 2016;22:2012-4 [DOI:10.1212/CON.0000000000000398]
54. Schroth M, Shish J, Stewart T, Paras A, Segura A. Cure SMA care center network and SMA clinical data registry with electronic health record integration. Neurology 2020;94:2477 [DOI:10.1212/WNL.94.15_supplement.2477]
55. Kodra Y, Weinbach J, Posada-de-la-Paz M, Coi A, Lemonnier SL, van Enckevort D, et al. Recommendations for improving the quality of rare disease registries. International Journal of Environmental Research and Public Health 2018;15:1644-66 [DOI:10.3390/ijerph15081644]
56. Zaletel M, Kralj M. Methodological guidelines and recommendations for efficient and rationale governance of patient registries. European Journal of Public Health 2015;25:61 [DOI:10.1093/eurpub/ckv169.006]
57. Opie-Martin S, Ossher L, Bredin A, Kulka A, Pearce N, Talbot K, Al-Chalabi A. Motor Neuron Disease Register for England, Wales and Northern Ireland-an analysis of incidence in England. Amyotroph Lateral Scler Frontotemporal Degener 2021;22:86-93 [DOI:10.1080/21678421.2020.1812661]
58. Alvarez K, Suarez B, Palomino MA, Hervias C, Calcagno G, Martínez-Jalilie M, et al. Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile. Arquivos De Neuro-Psiquiatria 2019;77:470-7 [DOI:10.1590/0004-282x20190073]
59. Rodrigues MJ, O'Grady GL, Hammond-Tooke G, Kidd A, Love DO, Baker RK, et al. The New Zealand neuromuscular disease patient registry; five years and a thousand patients. Journal of Neuromuscular Diseases 2017;4:183-8 [DOI:10.3233/JND-170240]
60. Talman P, Duong T, Vucic S, Mathers S, Venkatesh S, Henderson R, et al. Identification and outcomes of clinical phenotypes in amyotrophic lateral sclerosis/motor neuron disease: Australian national motor neuron disease observational cohort. BMJ Open 2016;6: 1-7 [DOI:10.1136/bmjopen-2016-012054]
61. Weil C, Zach N, Rishoni S, Shalev V, Chodick G. Epidemiology of amyotrophic lateral sclerosis: A population-based study in Israel. Neuroepidemiology 2016;47:76-81 [DOI:10.1159/000448921]
62. Raymond J, Oskarsson B, Mehta P, Horton K. Clinical characteristics of a large cohort of us participants enrolled in the national amyotrophic lateral sclerosis (ALS) registry, 2010-20. Amyotroph Lateral Scler Frontotemporal Degener 2019;20:413-20 [DOI:10.1080/21678421.2019.1612435]
63. Pareyson D, Fratta P, Pradat PF, Sorarù G, Finsterer J, Vissing J, et al. Towards a European registry and biorepository for patients with spinal and bulbar muscular atrophy. Journal of Molecular Neuroscience 2016;58:394-400 [DOI:10.1007/s12031-015-0704-5]
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