The PID Life Index: an interactive tool to measure the status of the PID healthcare environment in any given country

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.

Development of models of care coordination for rare conditions: A qualitative study

Introduction: Improving care coordination for people with rare conditions may help to reduce burden on patients and carers and improve the care that patients receive. We recently developed a taxonomy of different ways of coordinating care for rare conditions. It is not yet known which models of care coordination are appropriate in different situations. This study aimed to: i) explore what types of care coordination may be appropriate in different situations, and ii) use these findings to develop hypothetical models of care coordination for rare conditions. Methods: To explore appropriateness of different types of care coordination, we conducted interviews (n=30), four focus groups (n=22) and two workshops (n=27) with patients, carers, healthcare professionals, commissioners, and charity representatives. Participants were asked about preferences, benefits and challenges, and the factors influencing coordination. Thematic analysis was used to develop hypothetical models of care coordination. Models were refined following feedback from workshop participants. Results: Stakeholders prefer models of care that: are nationally centralised or a hybrid of national and local care, involve professionals collaborating to deliver care, have clear roles and responsibilities outlined (including administrative, coordinator, clinical and charity roles), provide access to records and offer flexible appointments (in terms of timing and mode). Many factors influenced coordination, including those relating to the patient (e.g., condition complexity, patient's location and ability to coordinate their own care), the healthcare professional (e.g., knowledge and time), the healthcare environment (e.g., resources) and societal factors (e.g., availability of funding). We developed and refined ten illustrative hypothetical models of care coordination for rare conditions. Conclusion: Findings underline that different models of care coordination may be appropriate in different situations. It is possible to develop models of care coordination which are tailored to the individual in context. Findings may be used to facilitate planning around which models of care coordination may be appropriate in different services or circumstances. Findings may also be used by key stakeholders (e.g. patient organisations, clinicians and service planners) as a decision-making tool.

The PID Principles of Care: Where Are We Now? A Global Status Report Based on the PID Life Index

A global gold standard framework for primary immunodeficiency (PID) care, structured around six principles, was published in 2014. To measure the implementation status of these principles IPOPI developed the PID Life Index in 2020, an interactive tool aggregating national PID data. This development was combined with a revision of the principles to consider advances in the field of health and science as well as political developments since 2014. The revision resulted in the following six principles: PID diagnosis, treatments, universal health coverage, specialised centres, national patient organisations and registries for PIDs. A questionnaire corresponding to these principles was sent out to IPOPI’s national member organisations and to countries in which IPOPI had medical contacts, and data was gathered from 60 countries. The data demonstrates that, regardless of global scientific progress on PIDs with a growing number of diagnostic tools and better treatment options becoming available, the accessibility and affordability of these remains uneven throughout the world. It is not only visible between regions, but also between countries within the same region. One of the most urgent needs is medical education. In countries without immunologists, patients with PID suffer the risk of remaining undiagnosed or misdiagnosed, resulting in health implications or even death. Many countries also lack the infrastructure needed to carry out more advanced diagnostic tests and perform treatments such as hematopoietic stem cell transplantation or gene therapy. The incapacity to secure appropriate diagnosis and treatments affects the PID environment negatively in these countries. Availability and affordability also remain key issues, as diagnosis and treatments require coverage/reimbursement to ensure that patients with PID can access them in practice, not only in theory. This is still not the case in many countries of the world according to the PID Life Index. Although some countries do perform better than others, to date no country has fully implemented the PID principles of care, confirming the long way ahead to ensure an optimal environment for patients with PID in every country.

Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD)

IntroductionPrimary ciliary dyskinesia (PCD) is a rare, genetic, multiorgan disease with an estimated prevalence of 1 in 10 000. It affects mainly the upper and lower airways due to impaired mucociliary clearance. Almost all patients have sinonasal or otologic (ear–nose–throat, ENT) problems, although the ENT clinical phenotype may present great variability. Despite that, data on PCD ENT manifestations are scarce and based on small single-centre studies. To date, we know little about the spectrum and severity of PCD ENT disease, its association with lung disease, its course over life and its determinants of prognosis.This study protocol describes the aims and methods of the first prospective, observational, multinational cohort study focusing on ENT disease in patients with PCD.Methods and analysisThe ENT prospective international cohort of patients with PCD (EPIC-PCD) is a prospective standardised observational clinical cohort set up as a multinational multicentre study, embedded into routine patient care. It aims to longitudinally characterise ENT disease in patients with PCD and its association with lung disease, and to identify determinants of its prognosis. Patients of all ages, diagnosed with PCD who undergo an ENT clinical assessment at least once a year at one of the participating centres will be invited to participate. Collected data include diagnostic test results, results of ENT examinations, lung function measurements, information on management of ENT disease and patient-reported data on clinical symptoms and health-related quality of life (QoL). Data are collected using the standardised PCD-specific FOLLOW-PCD form and the validated QoL-PCD questionnaire.Ethics and disseminationThe study has been reviewed and approved by the Human Research Ethics Committees at all participating centres, based on local legislation. The results of the study will be published in scientific journals, presented at scientific conferences and disseminated to participants and national patient organisations.Trial registrationNCT04611516.

Out of Compassion of Out of Rights? A Story about an Amyotrophic Lateral Sclerosis (ALS) Human Clinical Trial

This article examines the intersection of compassion and rights, and how the two concepts are constituted and wielded in the context of human clinical trials. Doron, an ALS patient who was recruited to a clinical trial, believed that he had the right to post-trial treatment according to the wording of an informed consent form he signed before joining the trial. However, the biotech company sponsoring the trial instead offered him ‘compassionate use’ access, i.e., access at its discretion rather than as a legal obligation on its part. I argue that under a ‘bioeconomy of value’, the human clinical trial regime has been subordinated to two competing discourses: that of compassion and that of patients’ rights. Both are interpreted and deployed differently by the different stakeholders, namely the patient, the biotech company, and the medical establishment. I argue that the adoption, by bioeconomy actors, of a social value discourse of compassion is designed to preserve a hierarchy that deprives the patient of their power and their rights. Simultaneously, this practice highlights the power of the biotech industry as a moral partner and ‘saviour’ in its relationship with patient organisations and its role as a medical–scientific actor in the Israeli healthcare system.

The PID Life Index: An Interactive Tool To Measure The Status of The PID Healthcare Environment in Any Given Country

Background: The “Primary Immunodeficiencies (PIDs) principles of care” were published in 2014 as the gold standard for care of patients with PIDs. 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. 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 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. The 6 PID Principles of Care were reviewed to consider advances in the field of health and science, as well as to include political developments that had occurred since their initial publication in 2014. This resulted in the following 6 principles: PID diagnosis, treatments, universal health coverage, specialised centres, national patient organisations and registries for PIDs. All principles are given the same weight while the criteria have a specific weight. PID Life Index also includes documentation on each country, on PID specialised centres taking care of patients with PIDs (children or adults), on immunoglobulin replacement therapies registered in each country as well as a glossary of the terminology used. Conclusion: The PID Life Index aims at becoming a resource for patients with PIDs and their representatives, healthcare professionals, decision-makers and other relevant stakeholders interested in learning more about the concrete situation of patients with PIDs. With this tool IPOPI wants to increase awareness and information as well as support advocacy initiatives on PIDs nationally, regionally or globally.