Conducting research with rare disease patient participants: key considerations
by Graphite Digital 15 February 24Designing digital products for rare disease communities requires a different level of care.
People living with rare conditions often face long, complex and emotionally demanding healthcare journeys. Diagnosis can take years, sometimes involving multiple misdiagnoses and consultations with different specialists before the underlying condition is identified. Even after diagnosis, access to reliable information, specialist expertise and appropriate support can remain limited.
Because rare diseases affect relatively small populations, organisations frequently have limited insight into what daily life with these conditions actually looks like. Clinical knowledge may exist, but lived experience is often poorly understood.
This is where user research becomes essential. By speaking directly with patients and understanding the realities of their experiences, healthcare and pharmaceutical organisations can design digital tools that genuinely support patients rather than adding further complexity.
Why user research matters in rare disease
Rare disease patients often navigate healthcare systems that were not designed around their needs.
Information about their condition may be scarce. Healthcare professionals may only encounter a small number of patients with the condition during their careers. Treatment pathways can be unclear, and patients may spend significant time researching symptoms, coordinating care and advocating for themselves.
Digital tools have the potential to provide meaningful support in these situations. Online platforms can help centralise information, connect patients with specialist clinicians and enable individuals to manage aspects of their condition more effectively.
However, designing these tools without first understanding the patient experience carries significant risk. Rare disease patients often have highly specific needs that cannot be inferred from broader healthcare trends or assumptions about patient behaviour.
User research allows organisations to learn directly from the people living with these conditions. It provides insight into how patients manage their health, what challenges they face and where digital support could have the greatest impact.
Recruiting rare disease research participants
Recruitment is often one of the most challenging aspects of rare disease research.
By definition, these conditions affect small populations. Patients may also be geographically dispersed, making traditional in-person research difficult to organise. Some individuals may feel hesitant about participating in research due to concerns around privacy or fatigue from repeated medical engagement.
Successful recruitment often relies on partnerships with trusted organisations that already support these communities. Patient advocacy groups, specialist clinics and rare disease charities frequently play an important role in helping researchers connect with appropriate participants.
Remote research methods can also help overcome geographical barriers. Virtual interviews and usability testing sessions allow patients to take part from their homes, making participation more accessible for individuals who may experience fatigue, mobility challenges or complex treatment schedules.
These approaches allow research teams to reach participants who might otherwise be excluded from traditional studies.
Conducting research with vulnerable participants
Many rare disease patients can be considered vulnerable participants due to the physical and psychological impact of their condition. Researchers therefore need to approach these studies with empathy, sensitivity and careful preparation.
Patients may have experienced years of uncertainty before receiving a diagnosis. Some may feel frustrated by previous interactions with healthcare systems or misunderstood by professionals who lack specialist knowledge of their condition. Others may have experienced social isolation or anxiety as a result of living with a poorly understood illness.
Creating a safe and respectful environment during research sessions is essential. Participants should clearly understand the purpose of the research, how their insights will be used and that they are free to share their experiences at their own pace.
Building trust during interviews is particularly important. When participants feel comfortable and respected, they are far more likely to speak openly about their experiences, challenges and priorities.
For researchers, listening carefully and allowing space for participants to reflect can often reveal insights that structured questioning alone would not uncover.
Choosing appropriate research methods
Qualitative research methods are particularly valuable when studying rare disease communities.
Because patient populations are relatively small and experiences vary widely, in-depth conversations often provide more meaningful insight than large-scale surveys. Interviews, diary studies and usability testing sessions allow researchers to explore the nuances of how individuals live with their condition and how digital tools may support them.
Interviews remain one of the most effective methods for understanding patient experience. Through open conversation, researchers can explore how patients manage symptoms, what information they rely on and how they interact with healthcare professionals and support networks.
Diary studies can also provide valuable context. By asking participants to record aspects of their daily life over a period of time, researchers gain a deeper understanding of how symptoms, treatments and emotional factors shape everyday routines.
When digital tools are being developed, usability testing allows researchers to observe how patients interact with prototypes or existing platforms. This is particularly important when designing for individuals who may experience fatigue, pain or cognitive challenges. Observing real interaction with a product often reveals barriers that would not be apparent through discussion alone.
Designing digital solutions for rare disease communities
When grounded in patient insight, digital tools can play a meaningful role in supporting rare disease communities.
Many patients struggle to access reliable and up-to-date information about their condition. Digital platforms can help centralise educational resources and provide guidance for managing symptoms, treatment pathways and lifestyle considerations.
For some individuals, digital communities offer an equally important form of support. Because rare diseases affect relatively small populations, patients may rarely encounter others living with the same condition. Online communities can provide a sense of connection, allowing individuals to share experiences, advice and emotional support.
Telemedicine tools also hold significant potential. Remote consultations can reduce the burden of travelling to specialist centres, which may be located far from a patient’s home. For individuals managing chronic symptoms, this can significantly improve access to care.
Digital monitoring tools can also support personalised care. By allowing patients to track symptoms, medication use or lifestyle factors, these tools can help individuals better understand their condition and share meaningful information with clinicians.
However, these opportunities only translate into effective digital products when they are grounded in real patient insight. Without research, organisations risk creating tools that overlook the complexities of living with a rare disease.
Ethical and safeguarding considerations
Research involving rare disease patients must always prioritise ethical practice and participant wellbeing.
Participants should provide fully informed consent before taking part in any research activity, and they should clearly understand how their contributions will be used. Personal data must be handled with care and stored securely to protect patient privacy.
Researchers should also be prepared for the possibility that participants may share sensitive or emotionally challenging experiences during interviews. Appropriate safeguarding protocols should be in place to ensure participants receive appropriate support if needed.
Finally, researchers themselves should recognise that conducting research in this space can be emotionally demanding. Listening to patient stories, particularly when they involve long diagnostic journeys or significant health challenges, can have a personal impact. Taking time to reflect and discuss experiences with colleagues helps maintain both wellbeing and professional objectivity.
Final reflections
Rare disease patients often live with conditions that are poorly understood and underrepresented in healthcare systems.
User research provides an opportunity to listen directly to these experiences and to design digital tools that genuinely support people navigating complex and often isolating health journeys.
For healthcare and pharmaceutical organisations working in this space, engaging with patient communities is more than a research exercise. It is an opportunity to design solutions that reflect the realities of living with rare conditions and to ensure that digital innovation serves the people it is intended to help.
How we can help you
We collaborate with healthcare and pharmaceutical organisations around the world to deepen customer connection by creating meaningful digital experiences. Our team take a truly user-centric approach to all that we do, utilising our in-house clinical UX research team to conduct research with patients and HCPs on behalf of our clients.
To find out more about our experience within the rare diseases space, or how we can work together to enhance your digital solutions, get in touch.
