Edition of 25 November 2025

A new article has been published in Health Policy and Technology discussing how equity-based principles can be integrated into health technology assessment (HTA) processes in order to improve the availability of orphan drugs (OD) in low- and middle-income countries such as Iran.

Standard HTA processes tend to rely primarily on cost-benefit analyses to determine the value of a treatment based on its effectiveness. However, performing HTA on ODs often requires the use of alternate criteria, due to high development costs and a lack of robust clinical evidence. In this article, the authors discuss how these challenges manifest in Iran, and provide policy recommendations for how to overcome them. These recommendations include:

• Establish specific horizon scanning procedures that extend beyond market-based indicators;
• Formalise stakeholder engagement throughout the HTA process
• Develop simplified Multi-Criteria Decision Analysis (MCDA) frameworks designed for rare diseases.

The authors also discuss complementary measures which could help facilitate successful HTAs for ODs. These include applying the Accountability for Reasonableness (A4R) framework, and applying equity weights to conventional economic evaluations.

Together, these recommendations seek to ensure fairness in HTA processes by taking an equity-driven approach to HTA topic selection. This in turn would help improve access to rare disease care, and combat worsening disparities experienced by people living with a rare disease.

A new article has been published in the European Journal of Human Genetics which discusses how patient passports for rare diseases can support healthcare coordination and communication with health professionals.

‘Patient passports’ are documents which provide a summary of key information on an individual’s health and care needs. They have been shown to improve patient experience and healthcare quality by enhancing communication with and between healthcare teams, and enable health professionals to quickly and accurately understand a person’s conditions and unique needs.

This article describes a pilot project conducted by the Cambridge Rare Disease Network (CamRARE) to develop the first patient passport specific to rare diseases. The passport, which was co-developed by patient representatives and healthcare providers, includes sections on personal details, diagnosis, medical history and care preferences. Results from the pilot were promising: more than half of participants felt the passport helped access needed care, two-thirds found it more useful than existing tools, and three-quarters were highly likely to recommend it to peers.

These results demonstrate that the introduction of a rare disease-specific patient passport could enhance healthcare coordination and patient experiences. However, further work is needed to assess its usability across different healthcare settings.

A new article has been published in the Orphanet Journal of Rare Diseases, presenting European consensus findings on psychosocial needs and support in rare diseases. People living with a rare disease (PLWRD) frequently experience high levels of stress and disease burden which may severely impact their psychosocial vulnerability, leading to a high level of need for psychosocial support among PLWRD. In order to better address these needs, researchers organised a workshop which aimed to establish a consensus about the most prominent psychosocial needs in rare diseases, and future research directions to develop adequate support in this area. They identified 57 specific needs, as well as four focal points for future research:

• Research for general and specific psychosocial topics in rare diseases
• Translating psychological models from common conditions
• Representation
• International collaborations

By establishing a consensus on the most prescient needs in this area, researchers hope to improve representation of psychosocial vulnerability within healthcare, and to encourage future research on how to best support PLWRD in times of psychological and social precarity.

A systematic review was recently published in Communications Medicine, describing how digital health technologies (DHT) have been applied in rare disease clinical trials. Researchers analysed clinical studies across the ten most-studied rare diseases to better understand the different ways DHTs are being integrated into study design and implementation, and what implications these trends may have for accelerating therapeutic development and improving patient access to care.

Overall, the study found that DHT adoption increased notably from 2017-2020 to 2021-2024 across nearly all diseases included in the study. The most prevalent application of DHTs was for data monitoring and collection, followed by digital treatment and long-term care management. They were also used, albeit less frequently, in domains such as remote follow-up, outcome assessment, and participant recruitment.

Overall, the study’s results revel a growing trend towards DHT integration, supporting decentralised, scalable, and patient-centred models in rare disease clinical trials. Based on their findings, the authors propose the ‘4A’ conceptual framework (Accessibility, Agility, Awareness, Adaptability) to guide DHT use in order to accelerate treatment development and expand access for underserved populations.

A new article has been published in Nature Genetics which describes how multidisciplinary collaboration can help resolve cases of undiagnosed rare disease, using the ‘Solvathon’ workshops organised by the Solve-RD project as a case study.

The Solve-RD Solvathons were a series of four data analysis and interpretation workshops, each focused on analysing a different type of data. Drawing inspiration from coding hackathon events, the Solvathons brought together experts from a range of disciplines to work towards resolving rare disease cases through collaborative multidisciplinary analysis. In the article, the authors provide actionable insights, best practices and lessons learned for similar data integration and collective diagnostics initiatives.

Solve-RD was a 5.5-year project, funded by the European Commission from 2018-2023, which aimed to identify the underlying molecular causes of undiagnosed rare diseases. Led by researchers from the University of Tübingen, Radboud University Medical Center, and the National Center for Genomic Analysis (CNAG) in Barcelona, the consortium brought together 300 experts from 12 European countries and Canada in order to deliver answers to people living with an undiagnosed disease and their families.