Orphanet Journal of Rare Diseases | Challenges and Opportunities in Rare Disease Management in the Middle East: A Multidimensional Analysis Based on Expert Consensus

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This study systematically reveals structural barriers within the rare disease diagnosis and treatment system in the Middle East, offering a practical priority framework to guide policy-making and clinical service optimization in the field of rare diseases. It provides direct guidance for disease registration and multidisciplinary collaboration in resource-limited settings.

 

Literature Overview

The article 'Management of patients with rare diseases in the Middle East: challenges & opportunities – insights from the Rare Advocacy Council,' published in the Orphanet Journal of Rare Diseases, systematically explores the multiple systemic challenges faced in rare disease management across the Middle East. Through multiple rounds of expert consensus meetings, the study identifies key bottlenecks in disease awareness, diagnostic pathways, treatment accessibility, and patient engagement, and proposes solutions based on policy, infrastructure, and collaborative networks. This work provides empirical foundations for building regional rare disease care systems.

Background Knowledge

1. The rare disease challenges addressed by this study include: although individual disease prevalence is low, the high rate of consanguinity in the Middle East significantly increases the burden of hereditary rare diseases (e.g., thalassemia, sickle cell disease, hemophilia) among the global population of approximately 300 million patients. Social stigma, fragmented healthcare resources, and the absence of national registries result in prolonged diagnostic delays and treatment gaps.
2. Current research bottlenecks in diagnostic delay include: lack of standardized newborn screening programs, shortages of clinical geneticists and bioinformaticians, and high costs of genetic testing, all of which limit the application of precision medicine in rare diseases. Additionally, patient-reported outcomes (PROs) are often overlooked in clinical decision-making, weakening patient-centered care models.
3. The research focus lies in integrating regional clinical experts, patient advocacy groups (PAGs), and international academic expertise to identify actionable systemic barriers and propose implementation strategies adapted to Middle Eastern cultural and healthcare structures, thereby filling the evidence gap in global rare disease policy for this region.

 

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Research Methods and Core Experiments

The authors adopted a multi-stage mixed-methods design, first organizing two 90-minute virtual expert panel discussions involving 14 interdisciplinary experts from the Middle East and Europe (including hematologists, pediatric oncologists, endocrinologists, and patient advocates), engaging in structured discussions across four domains: disease identification and diagnosis, patient journey and care continuity, timely access to diagnosis, and treatment accessibility. Following the discussions, nine regional experts (5 clinicians + 4 patient advocates) conducted an online Likert scale survey to assess the severity and policy priority of each challenge. Subsequently, a follow-up survey collected solution proposals for high-priority challenges, which were analyzed thematically.

Key Findings and Perspectives

• The absence of a national rare disease registry was rated as 'highly significant' by 80% of experts, with 40% identifying it as the top policy priority; this finding suggests that establishing an epidemiological surveillance system is fundamental to advancing orphan drug development and reimbursement decisions. Future registry development should prioritize the inclusion of patient advocacy groups in design and data sharing.
• Inadequate media engagement in raising public and physician awareness of rare diseases was considered significant by 70% of experts; it is recommended to use audiovisual campaigns featuring real patient stories to enhance emotional resonance, offering direct translational value for improving early diagnosis.
• Insufficient patient representation in decision-making (80% significant) and lack of multidisciplinary team (MDT) collaboration (80% significant) were identified as core barriers to care continuity; institutionalizing patient partnership mechanisms and establishing multidisciplinary care models at national centers are emphasized to optimize non-pharmacological interventions.
• Diagnostic capacity is limited by shortages of specialists and high genetic testing costs (70–80% significant); solutions include integrating rare disease curricula into medical education and promoting government-pharmaceutical partnerships to offer free or subsidized testing, which is crucial for enhancing variant interpretation capabilities.
• Treatment accessibility is constrained by high costs and insufficient insurance coverage (80% and 70% significant); reforming health technology assessment (HTA) to include patient voices and exploring outcome-based pricing models are advocated to enable sustainable access to high-cost therapies (e.g., gene therapy).

Research Implications and Outlook

From a research perspective, this study provides policy leverage points for implementing rare disease research in the Middle East. For example, establishing a national registry will provide real-world data for genotype-phenotype correlation studies and support biomarker discovery. Expanding newborn screening programs could promote early intervention research, especially for treatable metabolic disorders. Strengthening multidisciplinary teams also helps integrate clinical data with patient-reported outcomes, advancing patient-centered clinical trial design.

In drug development, the study emphasizes adapting orphan drug incentives to regional economic realities, such as reducing R&D costs through regional collaboration. In clinical monitoring, incorporating PROs into routine follow-up is recommended to improve sensitivity in assessing quality of life. For disease modeling, future work may leverage population-specific genetic variants in the Middle East (e.g., HBB mutations) to build more precise in vitro or animal models, exploring differences in disease mechanisms and treatment responses.

 

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Conclusion

This study reveals core systemic barriers in rare disease management in the Middle East, including the absence of national registries, insufficient patient engagement, fragmented multidisciplinary collaboration, and limited diagnostic and treatment accessibility. Using an expert consensus approach, the study proposes solutions centered on policy reform, infrastructure investment, and cross-sector collaboration, providing a roadmap for building a sustainable rare disease care system. From lab to clinic, these findings emphasize the need to incorporate epidemiological data generation, widespread genetic diagnosis, and patient empowerment into national health strategies. Particularly in the context of high consanguinity, strengthening newborn screening and genetic counseling can significantly reduce disease burden. Future efforts should promote regional collaboration networks (e.g., modeled after European Reference Networks), integrate genomic landscape data unique to the Middle East, and develop locally adapted diagnostic and treatment pathways. This study offers a replicable framework for implementing global rare disease policies in low- and middle-income countries, representing a crucial step toward equitable and efficient rare disease care.

 

Agnès Farrugia, Ahmed Bahey, Ahmad Tarawah, Lee Davelaar, and Noha Mohamed Mahmoud Abdelbaky. Management of patients with rare diseases in the Middle East: challenges & opportunities – insights from the Rare Advocacy Council. Orphanet Journal of Rare Diseases.