Researching rare diseases isn’t just about gathering data. It’s about honouring people’s stories, working with empathy, and designing research that genuinely reflects the realities of small, often overlooked groups of individuals.
Here’s what we think really matters when you’re doing this work thoughtfully and well.
1. Get patients involved early – their insights should drive strategy, not just validate it.
In rare diseases, patients’ journeys or ‘patient diagnostic odysseys’ are often long, patchy, and emotionally loaded. By the time they reach a diagnosis, they’ve usually spent years navigating uncertainty. That’s exactly why their input early in development is priceless.
In one neuromuscular disorder programme, researchers assumed improved mobility was the big priority. When they spoke to families early, they learned the biggest daily struggle was nighttime spasms that left households sleep-deprived and exhausted. That insight changed the clinical endpoints and ultimately made the trial more meaningful to real families.
Getting early insight prevents costly assumptions later. And critically, it builds trust.
2. Look beyond the patient. A rare disease is a whole ecosystem.
Rare diseases don’t just affect individuals. They shape families, ripple through friend groups, are held together by advocacy communities, and often rely on a tiny cluster of specialist centres.
For some metabolic conditions, caregivers manage strict daily routines from medication schedules to complex diets. They often know more about the practical realities of the condition than the patient themselves. Meanwhile, specialist centres tend to dominate diagnosis, language, and expectations.
Understanding everyone in this orbit helps you see the real system people are navigating.
3. Adapt to people’s needs in energy, cognition, and accessibility.
Many people with rare diseases deal with fatigue, mobility challenges, cognitive fog, sensory overload, or emotional strain. Asking them to sit through long interviews or dense surveys isn’t just unrealistic; it can be exclusionary.
Offering multiple ways to take part makes a huge difference:
- Short, manageable modules
- Options to record audio or video instead of writing
- The ability to respond in their own time
- Both online and offline options
- Adapting the schedule, e.g., to weekends and/or evenings when they may have better availability or headspace
Avoid methods that create confusion or emotional strain. Some techniques simply don’t serve rare disease participants. For example, overly abstract choice tasks, heavy medical jargon, mixing participants with vastly different severity levels, or asking them to evaluate medical data.
For example, in conducting interviews with individuals living with HIV, it was essential for us to be mindful of matching energy levels and adapting our discussions accordingly. Also, anything involving cognitive impairment, such as alcoholism related conditions, can make recalling specifics of timelines extremely challenging for patients.
Patients in a neurodegenerative condition study were asked to trade off side-effect risks in a conjoint task – something they felt unqualified and uncomfortable doing. When the task was swapped for narrative scenarios, responses became clearer, more emotional, and far more actionable.
When people feel accommodated, they can show up fully.
4. Be patient with recruitment. Rare means rare.
Even with expanding rare disease panels, recruitment almost always takes longer than expected. A multi-channel approach is essential: think social platforms, advocacy organizations, specialist clinicians, referrals, and snowballing.
A breast cancer study in HER2+ patients struggled to enrol through traditional referral channels, particularly because it involved a new route of administration. Recruitment accelerated only after identifying a patient advocate on Twitter who was also an oncologist and well-connected to others with the same diagnosis. Beyond referrals, she was able to reassure patients that the study was ethical and relevant. Trust was the missing piece.
Plan for time and build space for relationship-based recruitment.
5. Use creative, enabling methods to uncover deeper truths.
People with rare diseases often carry emotions that don’t fit neatly into interview questions: fear, frustration, grief, and identity shifts. Traditional methods can skim the surface. Enabling techniques can go deeper: trinket boxes, projective tasks, mobile ethnography, photo diaries – tools that help people express what’s hard to articulate.
For a rare skin condition, participants brought objects that symbolized their journey. Cracked pottery. Scarves. Childhood toys. These objects opened conversations about identity, shame, resilience, and hope.
Stories that would never have emerged through direct questioning.
6. Remember: rare communities often live online. Social media listening is essential.
Many patients with rare diseases have never met another person with their condition in person. Their true community exists online: in patient influencers on Instagram and TikTok, Reddit threads, Discord servers, and condition-specific forums.
Digital spaces reveal: the language people really use, early symptom patterns, barriers to diagnosis, treatment fears and expectations, and emerging community narratives. As well, the information sources and HCP influencers or stakeholders that they recommend to each other highlight a rich and interlinked online ecosystem.
A sudden spike in Reddit discussions about severe GI symptoms among patients with a rare autoimmune condition highlighted a misdiagnosis trend clinicians weren’t yet aware of.
Listening where patients naturally talk is invaluable. Choose approaches that meet people where they are.
7. Use AI-enabled approaches to reach people wherever they are.
Rare disease communities are scattered across countries, time zones, and life circumstances. AI-supported methods: conversational chatbots, app-based diaries, and asynchronous interviews can meet them where they are.
They help you: include more global participants, lighten respondent burden, capture “in the moment” moments, and scale qualitative depth.
Parents of children with a degenerative condition used an AI diary app to record voice notes during nighttime flare-ups – raw, emotional moments that scheduled interviews would never have captured.
AI isn’t replacing empathy; it’s amplifying access.
8. Incentivize meaningfully, not minimally.
Compensation needs to reflect time, effort, and the emotional weight of participating. Money matters, but meaning often matters too.
In a fatal paediatric rare disease study, families valued a follow-up call summarizing findings far more than the financial incentive. Feeling heard – and knowing their story might help future families – was deeply motivating.
Thoughtful incentives show respect.
9. Prioritize psychological safety. Always.
Many patients have been dismissed, doubted, or misunderstood for years. Research can reopen old wounds. Create safety through moderators who understand trauma, flexible pacing, absolute transparency, and, of course, the option to pause or leave at any time.
Adults diagnosed late in life often broke down when discussing years of being told symptoms were “psychological”. Gentle moderation and the option to step back kept the experience supportive rather than re-traumatizing.
Empathy isn’t a technique, it’s the foundation.
10. Build long-term relationships, not one-off interactions.
Rare diseases evolve, and the emotional landscape evolves with them. Longitudinal research brings irreplaceable depth. It can reveal shifting unmet needs, emotional highs and lows, real-world treatment experience, and emerging advocacy movement dynamics.
A 2-year online community with people living with haemophilia B showed how priorities changed over time, seasonal illnesses, and treatment availability. The manufacturer reshaped their entire communication strategy as a result.
A long-term connection builds deeper insight and trust.
It all comes down to patient research, which allows us to not only be empathetic but also provide better care.
However, many brands don’t see the business value of patient research, despite the opportunity for ROI and other business benefits. Keen to learn how to leverage patient care for business growth? Join us for our 30-minute webinar “Overhyped or underrated: Is patient research worth the effort?” on February 26th.