Management of patients with rare diseases in the Middle East: challenges & opportunities – insights from the Rare Advocacy Council

Abstract

Rare diseases affect a small percentage of the population but collectively impact millions worldwide. In the Middle East, the challenges are intensified by regional factors such as high rates of consanguinity, sociocultural stigma, limited diagnostic capacity, and inadequate healthcare infrastructure. These challenges often lead to delayed diagnoses, restricted access to treatment, and poor quality of life for affected individuals and their families. The Rare Advocacy Council conducted two 1.5-hour virtual expert panels involving 14 regional and international stakeholders (5 clinicians, 4 patient advocates, and 5 international academic experts) to identify and prioritize the challenges of managing rare diseases in the Middle East region. Discussions were organized across four domains: disease recognition and diagnosis, the patient journey and continuum of care, access to timely diagnostics, and access to adequate treatment, followed by structured online voting (involving only clinicians and patient advocates; n = 9), discussions focused on prioritization, and a descriptive follow-up survey to identify the most critical barriers and propose actionable solutions. Key challenges identified included the lack of national disease registries, limited public awareness, underrepresentation of patient voices in decision-making, fragmented multidisciplinary care, and restricted access to diagnostics and advanced therapies. Top priorities included developing national registries, enhancing media-driven education, strengthening collaboration among care providers, and improving treatment accessibility through policy reforms. Effective management of rare diseases in the Middle East requires a coordinated, patient-centered approach. Strengthening health system infrastructure, investing in education, and aligning policy with patient needs are essential for sustainable improvement. Collaborative action among policymakers, healthcare providers, and advocacy groups can significantly advance care delivery and improve outcomes for individuals living with rare diseases.