Edition of 20 November 2023

A new article by members of the ERN EuroBloodNet has been published in the Orphanet Journal of Rare Diseases. It uses the case of sickle cell disease (SCD) and the Annual Sickle Cell Disease and Thalassaemia Conference (ASCAT) to describe how embedding patient participation into international conferences can transform the role of lived experience for rare disease research.

The majority of people living with SCD in Europe belong to vulnerable minorities, and are less likely than people with other chronic conditions to be engaged in research design due to higher levels of poor health literacy and social isolation. In order to overcome these barriers and increase the presence of patient voices in SCD research, the ERN EuroBloodNet collaborated with Oxford Blood Group, the European Hematology Association, the British Society of Hematology, and ASCAT to integrate more patient-centred activities into the ASCAT conferences.

Two events were organised in the framework of ASCAT: a one-day research prioritisation workshop to capture patient perspectives on research priorities, and a series of educational sessions based on topics chosen by patients and their families. These events provided an opportunity for patients to become more engaged in SCD research, as well as to help address challenges of health literacy among the SCD community. Results from the conference highlight the importance of patient education for SCD, and of empowering patients to participate in research activities.

The ERN VASCERN’s Heritable Thoracic Aortic Diseases Working Group (HTAD-WG) has developed a set of Patient-centred Quality Outcome Measures (POM) which are now online. These measures can be used by healthcare providers to ensure they are providing good care for HTADs, by monitoring the availability of different aspects of healthcare. They reflect what patients consider as important, what a centre of expertise has to offer, and what aspects might need further development.

By conducting surveys with healthcare providers, patient advocates, and patients themselves, the HTAD-WG developed a total of 21 measures across 5 categories. They will be used in an ongoing manner to track the quality of care available to patients throughout the Network. Moving forward, the HTAD-WG will work towards developing patient reported outcome measures (PROMs) to evaluate patient experiences, and their view of their own health status and quality of life.