Abstract
BACKGROUND: Rare diseases, defined variably by global regions, collectively impact approximately 300 million individuals despite affecting small population segments individually. Historically there were no treatments developed for these conditions, leading to significant care challenges. Public interventions have incentivized treatment development, yet up to this day, many rare disease patients are deprived of timely diagnosis and treatment in comparison to patients with more common diseases. This study evaluates the challenges that rare disease patients and healthcare systems face in the Middle East and North Africa (MENA), seeking strategies to enhance treatment accessibility. METHODS: We followed a three-step approach for the study. First, we searched scientific publications and grey literature for the global challenges faced by rare disease patients. Our search also collected information on orphan drug regulations implemented in different countries. Subsequently, we used the findings to conduct a survey to pharmaceutical company representatives across three countries in the region (The Kingdom of Saudi Arabia, Egypt, and the United Arab Emirates). The survey assessed the challenges facing rare disease patients in the MENA region and the policies that have been implemented to overcome these challenges. The survey was then followed by governmental expert interviews to validate the survey responses and provide recommendations to mitigate the challenges. RESULTS: The literature and survey results revealed several challenges facing rare diseases, including lack of awareness, difficulty in acquiring marketing authorization and reimbursing orphan drugs. Validation meetings provided recommendations to mitigate such challenges in the selected countries. For instance, the collaboration between the Ministry of Health and pharmaceutical companies was recommended to improve rare diseases care. A separate registration process for orphan drugs with clear criteria and timelines was suggested. A differential cost-effectiveness threshold for orphan drugs was recommended. It was also recommended to establish a definition for rare diseases and to increase the utilization of managed entry agreements for orphan drugs. CONCLUSIONS: Rare diseases present challenges in the MENA region and globally, requiring focused attention and innovative solutions. By implementing comprehensive strategies that consider both economic efficiency and fairness, healthcare systems can better serve rare disease patients and improve their quality of life.