Building Sustainable Patient Involvement in Rare Condition Research

Abstract

An overview of the structural and cultural barriers to patient and public involvement and engagement (PPIE) in academic research, which are amplified in rare condition research, with recommendations on how to address them and reflections from patient, researcher and funder perspectives.

Patient and public involvement and engagement (PPIE), the practice of working with patients/carers as active partners in research, is now embedded in the language of UK health research (Lammons et al. 2025). Funders expect it, researchers increasingly value it, and the evidence base for its benefits continues to grow (Crocker et al. 2018). Yet delivery remains deeply uneven. Too often, meaningful PPIE depends on motivated individuals who lack supportive institutional systems, leaving it vulnerable to gaps and unjust harms that land on researchers, the people tasked with delivering PPIE, and patients who contribute their time (Papoulias and Brady 2024; Boylan et al. 2019).

This unevenness matters across all disciplines, but it is acutely felt in research for rare conditions. Around 3.5 million people in the UK are living with a rare condition, yet fewer than 5% of the estimated 7000 identified rare conditions have an effective treatment (NIHR Rare Disease Research Landscape Steering Group 2023). Research in this space is also historically underfunded, and while recent years have brought new investment, genomic advances and expanded infrastructure for translational research, some of these developments make the need to address barriers to PPIE at the systems level even more urgent (Genetic Alliance UK 2026).

The characteristics of rare condition research compound existing barriers to PPIE in distinctive ways. Because small, geographically dispersed populations make recruiting diverse contributors inherently harder, researchers tend to rely on a limited number of people or organisations for input (Mitchell and Butterworth 2025). A large proportion of rare conditions also affect children, raising particular ethical considerations on how they can be included (Postma et al. 2024), while those living with ultra‐rare or undiagnosed conditions face additional hurdles (Beighton et al. 2019). The persistent ‘diagnostic odyssey’ and complexity of care therefore mean that PPIE contributors are often managing significant personal challenges alongside their role in research, while siloed outreach across departments or institutions can therefore mean individuals become overburdened with requests.

These are not challenges that individual researchers can solve alone, but demand change at the institutional or systems level (Brookes et al. 2025). To support this change, Genetic Alliance UK, an alliance of charities and support groups for people living with genetic, rare and undiagnosed conditions across the UK, worked in partnership with researchers affiliated with Rare Disease Research UK and the LifeArc Translational Centres for Rare Disease to co‐develop eight recommendations for embedding sustainable, meaningful PPIE across the UK's rare condition research ecosystem (Table 1). While grounded in the context of rare conditions, they are designed to be transferable across biomedical and healthcare research more broadly (Genetic Alliance UK 2026). While approaches to PPIE in other health systems are certain to experience context‐specific challenges, the broad call to action behind this set of recommendations, to address structural and cultural barriers to PPIE, is likely also highly relevant to researchers based in other countries. The nature of rare condition research also means that the community is particularly collaborative across borders.

TABLE 1.

Recommendations to address structural and cultural barriers to PPIE in academic research.

Recommendation	Overview of how each could be implemented
1. Take a shared approach to delivering PPIE so that responsibility sits with both organisations and individual researchers	Fully fund PPIE infrastructure with dedicated staff roles; promote collaboration and coordinate PPIE to ensure continuity for contributors without over‐burdening individuals (e.g., establish standing groups of contributors).
2. Commit adequate project funding dedicated to delivering PPIE	Provide clear expectations/signposting to researchers for costing PPIE activities. Ensure that funders explicitly recognise PPIE as essential to high‐quality research and are equipped to assess PPIE activities and budgets.
3. Professionalise and expand PPIE training for researchers	Integrate PPIE training into professional development, including practical guidance on delivery; promote completion of training to embed practice early; ensure senior academics feel confident to set an example; and ensure PPIE staff are equipped to develop training and support researchers.
4. Develop organisational strategies to maximise diversity and inclusion in PPIE	Support researchers to capture the wide range of experiences that different contributors offer, especially for rare conditions. Build relationships with intermediary organisations (e.g., charities) as trusted bridges to reach diverse and underrepresented communities and streamline communication.
5. Simplify institutional reimbursement processes for PPIE	Develop fast‐track payment systems for PPIE contributors.
6. Build a culture of peer sharing and learning by‐doing	Complement researcher training with ‘hands‐on’ exposure to PPIE; share resources externally and create institutional PPIE directories to avoid duplication.
7. Integrate PPIE into career progression and appraisal frameworks	Ensure that high quality PPIE is embedded into academic progression frameworks; champion high‐profile recognition of PPIE via awards schemes and research quality assessment; develop a career path for PPIE staff that includes high‐level academic‐associated appointments.
8. Enhance visibility of PPIE in research outputs	Publish papers and special issues on PPIE in peer‐reviewed journals; encourage PPIE reporting at conferences; establish clear guidelines including addressing confusion around the need for ethical approval.

The recommendations reflect what Genetic Alliance UK hears consistently from its community and from researchers: that the will to do PPIE well exists, but the systems to support it do not yet match that ambition, and goodwill is not a sustainable substitute for properly funded, coordinated PPIE infrastructure. For example, when patient organisations are approached late in the project lifecycle or without adequate resourcing, the burden falls on a small number of charities or individuals that are already facing significant demands on their time.

A joint report by LifeArc, the Charities Research Involvement Group (CRIG) and the Translating and Accelerating Research (TAR) Network, which includes non‐rare condition support organisations, also emphasised the importance of having the right relationships and resources in place to support involvement (CRIG, LifeArc, and TAR 2025). For researchers and patient communities to work together more effectively, the report highlighted clearer guidance, greater support for training and communications, and more unified approaches across the broader research ecosystem as essential.

Many examples of good PPIE exist to demonstrate that meaningful involvement of people with rare conditions is not only possible, but if done right, can be modelled as a way of working for other healthcare research disciplines. However, delivery of PPIE varies enormously and is more consistently integrated in clinical research, where conversations about trial design and recruitment plans can be framed into tangible questions for PPIE contributors to respond to. One example of research that achieved meaningful involvement is the CONCORD study, which investigated coordinated care for people living with rare conditions (Morris et al. 2022). PPIE effectively helped shape the research questions and protocol for the study, as well as how findings were interpreted and communicated.

Yet researchers working in early‐stage discovery science often report feeling that involvement at this stage is premature or difficult to operationalise. But as the space where essential priorities are set, conversations attached to basic science between researchers and patients/carers are vital. They can exert a positive influence over the direction of travel as researchers form a deeper understanding of the impact of the conditions they are investigating and help ensure that innovation is grounded in what is acceptable and useful to people with lived experience (Green et al. 2025). For example, LifeArc established the MND Insights Group as a structured mechanism for people affected by motor neurone disease (MND) to guide the direction of their work, which was focused on preclinical research. The group was integral to shaping LifeArc's drug repurposing programme, advising on the acceptability of different administration routes and side effects, and reviewing funding applications (LifeArc 2024).

The impact of effective PPIE on contributors is also multifaceted. It may include professional development and upskilling, and the creation of new links between contributors to better support their advocacy work. The Rare Disease Research UK mTOR node is a prime example, where the team is studying a single pathway that is the cause of several different and varied rare conditions (Mantoan Ritter et al. 2025). The node's partnerships with support groups identified a shared interest in ways that were not previously apparent. As critical mass is hard to come by for rare conditions, building community in this way (among researchers and PPIE contributors) is invaluable.

Crucially, resources and support for involvement need to be built in from the start. Integrating PPIE into early‐stage research, where the pathway to patient benefit is less immediately visible, requires institutional support to build researcher confidence. An emphasis that PPIE is ‘business as usual’ for all researchers and rewarding its delivery as with other research practices, such as recognition of PPIE in appraisal frameworks, will encourage its uptake. The RDRUK Early Career Researcher Award in PPIE (Rare Disease Research UK 2025) is a concrete example of how the community can celebrate excellence and normalise PPIE for researchers at the start of their career.

While the barriers described in this commentary are not new, the combination of chronic underinvestment in rare conditions and current financial pressure on institutions makes addressing them more urgent than ever. The changing narrative around PPIE and the dissolution of key initiatives also risks giving the impression that it is no longer a priority. In addition, the growing use of AI in research and evidence synthesis raises questions about whether the voices of people with lived experience could be compressed, approximated or potentially displaced altogether (Steele et al. 2026). While AI‐driven data analysis presents numerous opportunities to advance rare condition research (Genetic Alliance UK 2026), there are concerns that it may be perceived inappropriately as a solution to the barriers described in this commentary.

For example, AI‐enabled ‘social media listening’ may have the potential to amplify the narrative of an individual's reality of living with a complex health condition to better inform research priorities (Spies et al. 2024). Yet an over‐reliance on AI also risks exacerbating the issue of people living with rare conditions being underrepresented in existing dialogue. We therefore welcome the CRIG's recent establishment of a working group focused on AI in the context of research involvement (www.slginvolvement.org.uk). Patient charity members, including organisations representing people with rare conditions, have so far voiced enthusiasm for its potential application in some areas of PPIE. However, many have encountered challenges with its uptake in practice and have expressed concern about this direction of travel. As rare condition communities are small and perspectives are hard‐won, our view is that PPIE is not a data input, but a critical relationship that cannot be automated and should not be circumvented.

As both the UK's research infrastructure and the international research community are facing a critical juncture, how can we ensure that PPIE does not become deprioritised, or that momentum to innovate in rare condition research outpaces inclusion? Despite these shifts in the research ecosystem, the examples in this commentary show that together, meaningful involvement for rare condition research is achievable when investment, planning and institutional backing are present. If PPIE is to become sustainable, funding systems need to support it as core research activity, rather than relying on informal workarounds. Given fewer than 5% of rare conditions have an effective treatment, PPIE that is well‐resourced and trusted is one of the clearest routes to ensuring that vital research focuses on what matters most to the people it is intended to serve, and so making research more inclusive is both an ethical imperative and a practical one.

Further, the eight recommendations in Table 1 are deliberately addressed to a broad range of actors: no single research organisation, funder or researcher can deliver this alone. We invite readers to reflect on which recommendations resonate most strongly, either because their organisation already addresses them well or because they highlight a key unmet need, and ask them to consider: which change can you champion in your network?

Author Contributions

Natasha Ratcliffe: writing – review and editing, conceptualization. Amy Hunter: conceptualization, funding acquisition, writing – review and editing, supervision, investigation, formal analysis, methodology, project administration. Dani Bancroft: writing – original draft, methodology, visualization, formal analysis, project administration, conceptualization, investigation.

Funding

Dani Bancroft and Amy Hunter work for Genetic Alliance UK, which is partnered with Rare Disease Research UK and the LifeArc Translational Centres for Rare Disease Hub. Genetic Alliance UK receives funding via a grant from the Rare Disease Research UK Hub, which is funded by UK Research and Innovation (UKRI) via the Medical Research Council and the National Institute for Health and Care (NIHR), and the LifeArc Translational Centres for Rare Disease Hub (grant number 10803), which is funded by LifeArc.

Conflicts of Interest

The authors declare no conflicts of interest.

Data Availability Statement

Data sharing not applicable to this article as no datasets were generated or analysed during the current study.