Edition of 10 February 2026

A new article, written by representatives from EURORDIS, has been published in Journal of Market Access & Health Policy. This article discusses the role of patients in health technology assessment (HTA) processes, the added value their contributions bring, and how to build capacity to make such involvement meaningful.

Patients participate in HTA in a variety of different ways. This article discusses how they can help support developers and regulators in the horizon scanning, scientific advice, and assessment and appraisal phases. Benefits of this participation include improved transparency and trust in regulators and better understanding of the real-world benefit of treatments. The authors also discuss several European case studies where patient involvement played a crucial role in making much-needed treatments available.

Recently, an article was published in Orphanet Journal of Rare Diseases presenting the co-creation process used to develop a customisable app for the self-management of rare diseases.

The German citizen science project SelEe sought to develop a mobile health intervention specific to rare diseases, in pursuit of improved patient outcomes. To ensure that the resulting app adequately responded to the specific needs of the rare disease community, development consisted of three phases of meaningful patient engagement. In Phase 1, patients and relatives of patients participated in workshops to define research topics and app requirements. In Phase 2, the app was developed by a core research team which included both patients and researchers. Finally, an evaluation of the app’s usage and usability was conducted in Phase 3 via an in-app survey.

The resulting SelEe app allows users to create and store data in a personalised health diary, which can then be exported using different graphs and formats. The app also includes accessibility features to support users with visual impairments. Findings from the evaluation conducted in Phase 3 showed that users were mostly happy with the app, despite noting possible improvements that could be made.

A study was recently published in BMC Public Health which aimed to assess the capability wellbeing among parents caring for children with rare diseases, and to identify factors which contribute to parental wellbeing.

Rare diseases impose a significant burden, not only on patients but on parents as well, who often must provide intensive caregiving, and can undergo financial hardship and social isolation as a result of their child’s illness. This study aimed to better understand how this burden impacts the wellbeing of parents of children diagnosed with a rare disease in China.

The results showed that parents experienced impaired capability wellbeing, with mothers reporting poorer wellbeing than fathers. Deficits were particularly observed in abilities related to stability, achievement, and autonomy. Some of the factors which were found to undermine parental capability wellbeing included severe disease condition, lack of treatment, diagnostic delay, low socio-economic status, lack of social support, financial burden, and work disruption.

A study has been published in npj Digital Medicine which investigates how information content (IC) can be used as a health system screening tool for rare diseases. Researchers used IC as a screening tool to identify rare disease candidates in Singapore’s electronic health record system, using SNOMED-CT terminology and its mappings to the Orphanet nomenclature of rare diseases (ORPHAcodes). They found this strategy yielded a screening test which could achieve approximately 95% sensitivity, while keeping potential follow-up burden at reasonable levels. This approach was also successful at identifying undiagnosed rare diseases, including those which are genetic in origin. These results demonstrate the potential of IC-based rare disease screening at both the hospital and health system levels.