“Rare diseases (RDs) are often severe, chronic, and progressive, with high mortality associated with them, having a profound negative impact on patients, their families, and societies. RD patients experience particular obstacles in terms of accessing adequate diagnosis, treatment, and care, as well as facing social and financial burdens. The low prevalence and unequal distribution of RDs limits the political visibility and prioritization of these diseases and leads to challenges in implementing research to gather important evidence to develop interventions and treatments. Managing RDs is a global concern, with healthcare systems and countries being unable to address the wide range of needs of RD patients fully and properly. PW had the responsibility of bringing together a group of global experts to develop a consensus on enhancing equitable access to RD diagnosis and treatment around the world. The consensus provides a comprehensive summary of evidence on the current situation of RDs globally and regionally, including conditions, practices, policies, and regulations; an analysis of the challenges and barriers faced by RD patients, their families, and caregivers; and a set of recommendations that can support critical decision-making, guiding efforts by a broad range of RDs stakeholders, including governments, international organizations, manufacturers, researchers, and patient advocacy groups.”
Adachi, T.; El-Hattab, A.W.; Jain, R.; Nogales Crespo, K.A.; Quirland Lazo, C.I.; Scarpa, M.; Summar, M.; Wattanasirichaigoon, D. Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges. Int. J. Environ. Res. Public Health 2023, 20, 4732.