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Abstract Background The “Primary Immunodeficiencies (PIDs) principles of care” were published in 2014 as the gold standard for care of patients with PIDs, setting a common goal for stakeholders to ensure that patients with PID have access to appropriate care and good quality of life. Since then, IPOPI (the International Patient Organisation for Primary Immunodeficiencies), has been working with national PID patient organisations as well as collaborating with scientific and medical institutions and experts to bring these principles closer to the day-to-day life of individuals with PIDs. Method The six PID Principles of Care were revised to consider advances in the field, as well as political developments that had occurred after their initial publication in 2014. Based on this revision the list was updated, and a new principle was added. The six established principles were: diagnosis, treatment, universal health coverage, specialised centres, national patient organisations and registries. Each principle was structured and measured through a series of criteria, and was given the same weight, as they have been considered to all be equally important. Specific weights were attributed to the criteria depending on their relevance and importance to quantify the principle. The index was translated into a survey for data collection: initially involving data from selected countries for a pilot, followed by integration of data from IPOPI’s national member organisations and key countries. Results The PID Life Index was developed in 2020 to assess the status of the PID environment and the implementation of the 6 principles worldwide. The Index allows for benchmarking countries either according to a set of principles and criteria or based on the user’s preferences. This can be displayed in an interactive map or through a data visualisation system. Conclusion The PID Life Index has been developed successfully and has potential to become an important source of information for PID stakeholders, to increase awareness and information as well as support advocacy initiatives on PIDs nationally, regionally or globally.

Abstract Background Rare diseases are ailments which impose a heavy burden on individual patients and global society as a whole. The rare disease management landscape is not a smooth one—a rare disease is quite often hard to diagnose, treat, and investigate. In China, the country’s rapid economic rise and development has brought an increased focus on rare diseases. At present, there is a growing focus placed on the importance and public health priority of rare diseases and on improving awareness, definitions, and treatments. Methods In this work we utilized clinical data from the Shanghai HIE System to characterize the status of 33 rare diseases with effective treatment in Shanghai for the time period of 2013–2016. Results and conclusion First, we describe the total number of patients, year-to-year change in new patients with diagnosis in one of the target diseases and the distribution of gender and age for the top six (by patient number) diseases of the set of 33 rare diseases. Second, we describe the hospitalization burden in terms of in-hospital ratio, length of stay, and medical expenses during hospitalization. Finally, rare disease period prevalence is calculated for the rare diseases set.

Background: The "Primary Immunodeficiencies (PIDs) principles of care" were published in 2014 as the gold standard for care of patients with PIDs, setting a common goal for stakeholders to ensure that patients with PID have access to appropriate care and good quality of life. Since then, IPOPI (the International Patient Organisation for Primary Immunodeficiencies), has been working with national PID patient organisations as well as collaborating with scientific and medical institutions and experts to bring these principles closer to the day-to-day life of individuals with PIDs.Method: The six PID Principles of Care were revised to consider advances in the field, as well as political developments that had occurred after their initial publication in 2014. Based on this revision the list was updated, and a new principle was added. The six established principles were: diagnosis, treatment, universal health coverage, specialised centres, national patient organisations and registries. Each principle was structured and measured through a series of criteria, and was given the same weight, as they have been considered to all be equally important. Specific weights were attributed to the criteria depending on their relevance and importance to quantify the principle. The index was translated into a survey for data collection: initially involving data from selected countries for a pilot, followed by integration of data from IPOPI's national member organisations and key countries.Results: The PID Life Index was developed in 2020 to assess the status of the PID environment and the implementation of the 6 principles worldwide. The Index allows for benchmarking countries either according to a set of principles and criteria or based on the user's preferences. This can be displayed in an interactive map or through a data visualisation system.Conclusion: The PID Life Index has been developed successfully and has potential to become an important source of information for PID stakeholders, to increase awareness and information as well as support advocacy initiatives on PIDs nationally, regionally or globally. [ABSTRACT FROM AUTHOR]

Background: Rare diseases are ailments which impose a heavy burden on individual patients and global society as a whole. The rare disease management landscape is not a smooth one-a rare disease is quite often hard to diagnose, treat, and investigate. In China, the country's rapid economic rise and development has brought an increased focus on rare diseases. At present, there is a growing focus placed on the importance and public health priority of rare diseases and on improving awareness, definitions, and treatments.Methods: In this work we utilized clinical data from the Shanghai HIE System to characterize the status of 33 rare diseases with effective treatment in Shanghai for the time period of 2013-2016.Results and Conclusion: First, we describe the total number of patients, year-to-year change in new patients with diagnosis in one of the target diseases and the distribution of gender and age for the top six (by patient number) diseases of the set of 33 rare diseases. Second, we describe the hospitalization burden in terms of in-hospital ratio, length of stay, and medical expenses during hospitalization. Finally, rare disease period prevalence is calculated for the rare diseases set. [ABSTRACT FROM AUTHOR]