Shaping national rare diseases definition in Saudi Arabia: outcome from health ecosystem multisectoral workshop
IntroductionRare diseases are characterized by low prevalence, a profound impact on patients, and significant challenges in accessing treatment. In Saudi Arabia, the absence of an official definition hampers policymaking, resource allocation, and orphan drugs accessibility. This study aimed to addre...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-07-01
|
| Series: | Frontiers in Pharmacology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fphar.2025.1595967/full |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1839626384415129600 |
|---|---|
| author | Ghada Mohammed Abozaid Ghada Mohammed Abozaid Hussain Abdulrahman Al-Omar Abdulaziz Alrabiah Hiba Alomary Amy Jayne McKnight |
| author_facet | Ghada Mohammed Abozaid Ghada Mohammed Abozaid Hussain Abdulrahman Al-Omar Abdulaziz Alrabiah Hiba Alomary Amy Jayne McKnight |
| author_sort | Ghada Mohammed Abozaid |
| collection | DOAJ |
| description | IntroductionRare diseases are characterized by low prevalence, a profound impact on patients, and significant challenges in accessing treatment. In Saudi Arabia, the absence of an official definition hampers policymaking, resource allocation, and orphan drugs accessibility. This study aimed to address this gap by proposing a definition of rare diseases using inputs and views from a Saudi multi-stakeholder workshop.MethodsA 1-day workshop was hosted in collaboration with the Saudi Health Council in Riyadh on 5 June 2023, involving 59 participants from various sectors, including clinicians, policymakers, patient advocates, and industry professionals. Using the Vevox® platform, participants engaged in structured activities comprising a demographic survey and 10 interactive voting sessions. Preferred qualitative and quantitative criteria for defining rare diseases were identified and analyzed using descriptive statistics and thematic and content analysis of open-ended questions.ResultsThe findings indicated a strong preference (96%) for an integrated definition combining qualitative and quantitative criteria. Key qualitative terms such as “Disease” (62%), “Serious” (53%), and “Disorder” (51%) were favored for their clarity and broad applicability. “Genetic” etiology was preferred by 91% of participants, citing its relevance and data availability. Patient-centered criteria, including “life-threatening” (73%) and “considerable reduction in quality of life” (91%), were emphasized. Economic and resource-focused considerations, such as “Lack of Resources” and “Combined Efforts to Prevent” (each at 60%), reflected key unmet needs in the current healthcare landscape. Among quantitative criteria, “Prevalence” (82%) emerged as the most accepted, aligned with international practices, although opinions were mixed on the inclusion of population size thresholds, underscoring the definitional complexity of defining RDs with both precision and flexibility.DiscussionThis study provides a foundational basis and scientific root for defining rare diseases in the Saudi context, addressing key gaps in healthcare policies. By integrating evidence-based, patient-centered, and resource-oriented criteria, the proposed definition supports equitable access, improved patient care, and sustainable innovation, in alignment with Saudi Arabia’s Vision 2030 goals. Further refinement with broader stakeholder inputs is essential for the successful integration of Saudi healthcare policies. |
| format | Article |
| id | doaj-art-4db9c4a23f6349a3b70bce8efd9c2fd6 |
| institution | Matheson Library |
| issn | 1663-9812 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pharmacology |
| spelling | doaj-art-4db9c4a23f6349a3b70bce8efd9c2fd62025-07-17T12:55:15ZengFrontiers Media S.A.Frontiers in Pharmacology1663-98122025-07-011610.3389/fphar.2025.15959671595967Shaping national rare diseases definition in Saudi Arabia: outcome from health ecosystem multisectoral workshopGhada Mohammed Abozaid0Ghada Mohammed Abozaid1Hussain Abdulrahman Al-Omar2Abdulaziz Alrabiah3Hiba Alomary4Amy Jayne McKnight5Centre for Public Health, Institute of Clinical Sciences B, Royal Victoria Hospital, Dentistry and Biomedical Sciences, Queen’s University Belfast School of Medicine, Belfast, United KingdomPharmacy Practice Department, College of Pharmacy, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi ArabiaDepartment of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi ArabiaGeneral Directorate of National Health Policies and Economics, Saudi Health Council, Riyadh, Saudi ArabiaDepartment of Applied Linguistics, College of Languages, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi ArabiaCentre for Public Health, Institute of Clinical Sciences B, Royal Victoria Hospital, Dentistry and Biomedical Sciences, Queen’s University Belfast School of Medicine, Belfast, United KingdomIntroductionRare diseases are characterized by low prevalence, a profound impact on patients, and significant challenges in accessing treatment. In Saudi Arabia, the absence of an official definition hampers policymaking, resource allocation, and orphan drugs accessibility. This study aimed to address this gap by proposing a definition of rare diseases using inputs and views from a Saudi multi-stakeholder workshop.MethodsA 1-day workshop was hosted in collaboration with the Saudi Health Council in Riyadh on 5 June 2023, involving 59 participants from various sectors, including clinicians, policymakers, patient advocates, and industry professionals. Using the Vevox® platform, participants engaged in structured activities comprising a demographic survey and 10 interactive voting sessions. Preferred qualitative and quantitative criteria for defining rare diseases were identified and analyzed using descriptive statistics and thematic and content analysis of open-ended questions.ResultsThe findings indicated a strong preference (96%) for an integrated definition combining qualitative and quantitative criteria. Key qualitative terms such as “Disease” (62%), “Serious” (53%), and “Disorder” (51%) were favored for their clarity and broad applicability. “Genetic” etiology was preferred by 91% of participants, citing its relevance and data availability. Patient-centered criteria, including “life-threatening” (73%) and “considerable reduction in quality of life” (91%), were emphasized. Economic and resource-focused considerations, such as “Lack of Resources” and “Combined Efforts to Prevent” (each at 60%), reflected key unmet needs in the current healthcare landscape. Among quantitative criteria, “Prevalence” (82%) emerged as the most accepted, aligned with international practices, although opinions were mixed on the inclusion of population size thresholds, underscoring the definitional complexity of defining RDs with both precision and flexibility.DiscussionThis study provides a foundational basis and scientific root for defining rare diseases in the Saudi context, addressing key gaps in healthcare policies. By integrating evidence-based, patient-centered, and resource-oriented criteria, the proposed definition supports equitable access, improved patient care, and sustainable innovation, in alignment with Saudi Arabia’s Vision 2030 goals. Further refinement with broader stakeholder inputs is essential for the successful integration of Saudi healthcare policies.https://www.frontiersin.org/articles/10.3389/fphar.2025.1595967/fullrare diseasespolicycriteriadefinitionSaudi Arabiareimbursement |
| spellingShingle | Ghada Mohammed Abozaid Ghada Mohammed Abozaid Hussain Abdulrahman Al-Omar Abdulaziz Alrabiah Hiba Alomary Amy Jayne McKnight Shaping national rare diseases definition in Saudi Arabia: outcome from health ecosystem multisectoral workshop Frontiers in Pharmacology rare diseases policy criteria definition Saudi Arabia reimbursement |
| title | Shaping national rare diseases definition in Saudi Arabia: outcome from health ecosystem multisectoral workshop |
| title_full | Shaping national rare diseases definition in Saudi Arabia: outcome from health ecosystem multisectoral workshop |
| title_fullStr | Shaping national rare diseases definition in Saudi Arabia: outcome from health ecosystem multisectoral workshop |
| title_full_unstemmed | Shaping national rare diseases definition in Saudi Arabia: outcome from health ecosystem multisectoral workshop |
| title_short | Shaping national rare diseases definition in Saudi Arabia: outcome from health ecosystem multisectoral workshop |
| title_sort | shaping national rare diseases definition in saudi arabia outcome from health ecosystem multisectoral workshop |
| topic | rare diseases policy criteria definition Saudi Arabia reimbursement |
| url | https://www.frontiersin.org/articles/10.3389/fphar.2025.1595967/full |
| work_keys_str_mv | AT ghadamohammedabozaid shapingnationalrarediseasesdefinitioninsaudiarabiaoutcomefromhealthecosystemmultisectoralworkshop AT ghadamohammedabozaid shapingnationalrarediseasesdefinitioninsaudiarabiaoutcomefromhealthecosystemmultisectoralworkshop AT hussainabdulrahmanalomar shapingnationalrarediseasesdefinitioninsaudiarabiaoutcomefromhealthecosystemmultisectoralworkshop AT abdulazizalrabiah shapingnationalrarediseasesdefinitioninsaudiarabiaoutcomefromhealthecosystemmultisectoralworkshop AT hibaalomary shapingnationalrarediseasesdefinitioninsaudiarabiaoutcomefromhealthecosystemmultisectoralworkshop AT amyjaynemcknight shapingnationalrarediseasesdefinitioninsaudiarabiaoutcomefromhealthecosystemmultisectoralworkshop |