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Volume 10, Issue 2 (Summer 2024)                   JMIS 2024, 10(2): 124-137 | Back to browse issues page

Ethics code: IR.IUMS.REC.1398.921


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Azadi Cheshmekabodi H, Nasiri S, Sadoughi F. Designing a Minimum Data Set for Spinal Muscular Atrophy Registry in Iran. JMIS 2024; 10 (2) :124-137
URL: http://jmis.hums.ac.ir/article-1-537-en.html
Department of Health Information Management, School of Health Management and Information Sciences, Iran University of Medical Sciences, Tehran, Iran.
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Introduction
After Duchenne muscular dystrophy, spinal muscular atrophy (SMA) is the most common neuromuscular disease affecting children. It is the most common hereditary condition that results in death in early childhood and infancy. This disease is one of the most debilitating neuromuscular diseases that includes a diverse group of genetic disorders and affects spinal motor neurons. The progression of this disease is based on age and movement performance (such as sitting or standing), which is divided into three clinical forms or phenotypes, namely type 1 (Werdnig–Hoffmann disease), type 2 (Dubowitz disease) and type 3 (Kugelberg-Welander disease). The prevalence of SMA types 1, 2 and 3 is 60%, 30% and 10%, respectively. Most patients with SMA type 1 die within the first two years of life. Patients with the SMA type 2 often have 6-18 months of age, with progressive muscular weakening and tightness. In some studies, a fourth type of SMA has been suggested in adults and there is also a zero type in the first few weeks of birth. The prevalence of SMA varies by ethnicity and race. 
Epidemiological information regarding the number of people with SMA in Iran is unavailable, which can be due to a lack of uniformity in collecting the health care data, a large amount of data, or a lack of documentation. As a result, it is difficult to assess patients and plan health care and has negative consequences such as delays in early diagnosis, giving unique care, and limiting access to providing timely treatments. As a result, the creation of a minimum data set (MDS) to collect accurate, quality, and accessible data for SMA is needed. When developing an MDS for registry systems, it is essential that all beneficiaries agree on each data element. Creation of MDS with standard data elements that is a collective agreement on it is considered as one of the requirements for the design of a national registry. Therefore, the present study aims to design an MDS for the SMA registry in Iran.

Methods
This is a descriptive-comparative study that was conducted in 2020 in three stages. In the first stage, the data elements were extracted from the medical records of patients with SMA referred to genetic centers (Dr. Zeinali and Dr. Zamani genetic centers), medical centers (Mofid Children’s Hospital and Children’s Medical Center) and the Iranian Rare Disease Foundation, located in Tehran. In the second stage, we used the national registry systems of different countries such as Australia, Canada, the Czech Republic and Pakistan and the global registry network (TREAT-NMD), SMArtCARE and RESTORE to compare the MDS for SMA registry. In this regard, we searched for the articles and documents in Scopus, PubMed, and Web of Science and Google search engine using two groups of keywords related to MDS and SMA. In the third stage, a questionnaire was designed to validate the initial MDS. The first section of this questionnaire surveys the experts’ demographic characteristics, and the second section contained 79 items relating to MDS for SMA, which were close-ended questions answered by “necessary” or “not necessary”. Each data element had 11 subsets, including “demographic information”, “patient clinical history”, “family history”, “diagnostic and genetic tests”, “respiratory status”, “mobility status”, “nutritional status”, “pharmaceutical and therapeutic measures”, “ hospitalization status and treatments”, “service provider” and “mortality”. At the end of the second section, there is an open-ended question so that the experts can elaborate on their opinions. The face and content validity of this questionnaire were measured based on the opinions of six experts in the fields of neurology, medical genetics, and health information management. The inclusion criteria for the experts were at least two years of clinical work experience in teaching hospitals or research centers in the field of SMA or work experience in one of the disease registry systems. 
Participants for each round of Delphi included 16 neurosurgeons and medical geneticists. After collecting the data in the first round, they were described using descriptive statistics (frequency and percentage) in Excel software, version 2019. The data elements with inter-rater agreement of less than 50% were removed from the initial MDS and those with an agreement rate above 75% were included in the final MDS. The elements with an agreement rate of 50-75% were re-assessed in the second Delphi round. The method of data analysis in the second round was similar to the first round.

Results
Out of 86 data elements, 56 in the first round and 9 in the second round had an inter-rater agreement rate above 75% which were included in the final MDS and 21 data elements with an agreement rate of less than 50% were removed. Out of 11 validated MDS subsets, 10 subsets were recommended by experts, which were demographic information (13 data elements), patient clinical history (10 data elements), family history (3 data elements), diagnostic and genetic tests (6 data elements), respiratory status (10 data elements), mobility status (9 data elements), nutritional status (one data element), pharmaceutical and therapeutic measures (8 data elements), service provider (3 data elements), and mortality (2 data elements). The subset of “hospitalization status and treatments” was removed.

Conclusion
Developing an MDS for the SMA registry in Iran can be an effective step toward integrating the information system, improving information management, monitoring patients’ records and progress, providing epidemiology statistics, facilitating clinical trials, improving national health planning and policy, and allocating resources to these patients. Since biomarkers are among the most crucial data elements for diagnosing rare diseases, they can provide information on biological mechanisms, risk factors, and treatment outcomes. Therefore, it is recommended that the national MDS should consider the collection of biomarkers for the SMA registry.

Ethical Considerations

Compliance with ethical guidelines

This research was approved by the Research Ethics Committees of Iran University of Medical Sciences (Code: IR.IUMS.REC.1398.921).

Funding
This article was extracted from the master’s thesis of Hadiseh Azadi Cheshmekabodi, approverd by Department of Health Information Management, School of Health Management and Information Sciences, Iran University of Medical Sciences, Tehran, Iran. (Grand No.: 98-4-37-16590).

Authors' contributions
Supervision: Farahnaz Sadoughi; Methodology: Somayeh Nasiri; Data collection and writing the original draft: Hadiseh Azadi Cheshmekabodi; Review and editing: Somayeh Nasiri and Farahnaz Sadoughi; Data analysis and final approval: All authors.

Conflicts of interest
The authors declared no conflict of interest.

Acknowledgements
The authors would like to thank all participants in this research for their cooperation. 




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Type of Study: Review | Subject: Special
Received: 2024/06/1 | Accepted: 2024/06/28 | Published: 2024/07/1

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