Background The European Reference Network on Rare Disease (ERN) is focused on providing more equitable care across Europe and creates a network of both medical specialists and patient experts. One relevant objective of the activities planned into the ERNs is to address the economic dimensions of rare diseases in order to develop strategies to improve research and patients' access to orphan drugs (ODs) and highly specialized health technologies. The themes built in these preliminary years were directed toward guidelines and policies concerning reimbursement of ODs and direct provision by the healthcare system. Methods to proceed further in humanization of care we establish involvement of patients' associations in decision making and implementation of clinical practice guidelines. We built in Federico II University Hospital where 12 ERN were aligned a front office corner shared between patients association and hospital direction in order to face the patient difficulties along the pathway. The corner is open three times a week on the morning, with a dedicated phone number. Results Main issues regarded the understanding of the disease and the diagnosis (ie, lack of familiarity with the rare disease, disease heterogeneity, lack of established diagnostic criteria, misdiagnosis,) the development of effective treatments and the need for efficacy along the path way of care (ie, geographical limitations, disease coding systems, ethical and privacy issues). Fewer concerns were about the equity of access and other social pressures. Conclusions In general, in ERN context, few people declared to work in human and social issues, including research on patient's quality of life, patient's awareness, or methods for social support. Our findings demonstrated that Patients were positively affected from the corner initiative: this may ameliorate the use of infrastructures offering services, also that rarely known as national and international biobanking platforms, registries and networks. Key messages Humanization of care issues and strategies are nowadays mandatory in rare diseases. Patients are positively affected from shared initiatives.

Background In Rare diseases patients. difficult in diagnosis can produce inappropriate pathways of care. A correct diagnosis took almost 5 years in Europe and 7.3-7.6 y in US. The directive 2011/24/EU provides a legal regulatory asset for the European Reference Networks (ERNs). ERNs are designed to connect health care providers and centers of expertise for gaining appropriate pathways of high-quality care and to support sponsorship in order to make healthcare closer to the patients. Federico II University actually has 9 confirmed ERNs. Methods We connected the patient related activities inside the ERNs and we planned a project-based network that creates harmonization of diagnostic tools and widespread diffusion of screening activity able to drive diagnostic enrichment. The Hospital Chief Office together with the Public Health Department acts as “Knowledge brokers” (KB) defined as connectors who may crisscross the hierarchical boundaries. We scheduled interventions into the ERNs and future improvements. Interventions areas have been represented in a conceptual map. Results Brokers into the network are attended to allow better merged innovation rate and sharing data. Improvements could be directed toward: 1) sharing data and communication, 2) diagnostic enrichment 3) hospital services networking into the path. Including this model in the regional pathways may build a common platform to support appropriate care in disease-endemic regions. The designed model finally aimed at define how humanization and networking of care can be measured as gain in efficiency along the overall path. Conclusions Network potential may overload a simply specific hub focused approach. The “criss cross” knowledge brokering (could be a strategy able to support clinical and diagnostic activities. To proceed over, in orphan disease handling, we may progress from approaches centered on florid cases toward a balanced screening design, able to guarantee a diagnostic enrichment for a rare condition. Key messages Implicit and formal Networking cam help rare disease handling. Sharing data and diagnostic enrichment are the main issues.