The organizational dimension in rare and complex diseases care management: an application of RarERN Path© methodology in ataxias, dystonia and phenylketonuria

Abstract Background and methods The organization of care profoundly impacts the variability in the quality of care provided to patients and the equity of access to care. The lack of coordination of care, of communication among healthcare providers, healthcare professionals, and patients, and the duplication of services provided to the patients represent some paradigmatic examples of organizational barriers to deliver high-quality patient-centered care and to promote equitable access to healthcare services. Patient care pathways (PCPs) are valuable tools for the (re)design and the (re)definition of the provision of healthcare services to patients. This work represents the first application of the RarERN Path© methodology for the (re)design of Patient Care Pathways (PCPs) to Ataxias, Dystonia, and Phenylketonuria (PKU). The study was conducted with the support of Academic Partners and in collaboration with experts from two of the 24 European Reference Networks for rare diseases (ERN RND and MetabERN). Results The application of some of the phases of RarERN Path© methodology enabled the translation of the good practices already in place in the centers of expertise into a common optimized PCP, one for each of the three diseases, integrating the expertise of some reference centers of excellence with the patients’ perspectives, and principally focusing on the organization of care. Conclusions The PCPs proposed for progressive ataxias, dystonia, and PKU provide insight into the value of specialized centers in diagnosing and managing patients with rare and complex conditions and are the results of a co-designed optimized process integrating the good practices of the centers of excellence and expertise with the perspectives of the patients’ representatives. This integrated approach allowed for the re-design and optimization of the organizational dimensions of the patient’s care pathways.