Case study · Survey design, recruitment & administration
Capturing the real-world patient experience of a rare, lifelong disease
MedPanel built, recruited for, and ran a double-blind survey of 280 adults living with Fabry disease across the US and Canada — turning the patient voice into real-world evidence.
Fabry disease is a rare, inherited disorder that quietly damages the kidneys, heart, and nervous system over a lifetime. Patients carry a heavy treatment and monitoring burden, yet little had been documented about how they actually experience their disease day to day. Answering that meant reaching hundreds of diagnosed adults across two countries, confirming each diagnosis, and running a rigorous, unbiased survey — the full-service work MedPanel was built for.
A rare disease, an undocumented experience
Fabry disease affects relatively few people, presents very differently from one patient to the next, and is managed with demanding therapies — most commonly enzyme replacement therapy delivered by regular intravenous infusions. Despite this, the patient’s own perspective on disease progression, symptom burden, and treatment had rarely been captured at scale.
Building that evidence required reaching a dispersed population across the US and Canada, verifying that each respondent had a confirmed Fabry diagnosis, and running the survey double-blind so answers wouldn’t be skewed by knowing who was behind it. Designing that instrument, recruiting and screening participants, and administering it cleanly is where MedPanel came in.
How do people living with Fabry disease actually experience their condition — its symptoms, its monitoring, and the burden of treatment — in the real world?
What the research set out to do
Assess how patients perceive and live with Fabry disease across four areas.
Capture patient-reported disease severity and symptoms — what people experience and how bothersome or controllable it feels.
Understand disease monitoring and perception of progression, including satisfaction with how the disease is tracked over time.
Characterise the burden of enzyme replacement therapy — infusion duration, premedication, and symptom worsening between infusions.
Surface the gaps and unmet needs between standard-of-care monitoring and how patients actually feel their disease is progressing.
Design, recruit, administer
A double-blind, cross-sectional survey built on a carefully screened, diagnosis-confirmed sample.
Survey design
MedPanel built the questionnaire with input from patient advocacy groups and clinical experts, ran a pilot soft launch, and refined the wording through cognitive interviews to make sure every question was clear and correctly understood.
Recruitment & screening
Participants were recruited across the US and Canada through patient advocacy groups and physician and patient referrals, screened against clear eligibility criteria, with every Fabry diagnosis confirmed via patient-provided documentation.
Administration
MedPanel administered the survey double-blind — participants were unaware of who sponsored it — and deidentified all responses before delivery, with the full dataset collected over a focused 15-day window.
A gap between monitoring and lived experience
Patients kept feeling their disease despite treatment — and often kept it to themselves.
reported low energy or fatigue
Most respondents lived with an ongoing symptom load despite treatment — fatigue, tingling, and pain in the hands and feet were among the most common, and over half found their symptoms bothersome or hard to control.
felt symptoms worsen between infusions
About half of those on enzyme replacement therapy experienced a temporary return of symptoms in the days before their next infusion was due — pointing to a real burden in the gaps between treatments.
told their physician about that worsening
Only about half raised this symptom worsening with their doctor — and of those who did, fewer than half saw a change in medication or regimen, revealing a clear communication gap in routine care.
felt their disease was worsening — even when labs looked stable
Despite broad satisfaction with how their disease was monitored, most respondents sensed progression that standard lab tests and assessments weren’t capturing — the study’s central disconnect.
Full-service rare-disease research, end to end
Real-world evidence in a rare disease depends on the right instrument, the right participants, and a clean, unbiased process. MedPanel handled all three — designing the survey, recruiting and confirming 280 Fabry patients across two countries, and administering it double-blind so the findings would stand up.
The result is a large, rigorous dataset that surfaces a clear gap between how Fabry disease is monitored and how patients actually feel it progressing — insight that helps clinicians and drug developers address unmet needs. It is a strong example of how MedPanel’s recruitment reach and research capability power credible work in hard-to-study populations.
Survey built and validated
Questionnaire designed, piloted, and refined with patient and clinical input.
Rare population reached
280 diagnosis-confirmed Fabry adults recruited across the US and Canada.
Unbiased administration
Run double-blind, with all responses deidentified before delivery.
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Published, peer-reviewed, open access
The study MedPanel designed and ran — available in full.
Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents
A double-blind, cross-sectional survey of 280 adults with Fabry disease in the US and Canada, examining patient-reported disease severity, monitoring, treatment, and the burden of enzyme replacement therapy. MedPanel designed the survey, recruited and screened the participants, and administered the study.
Read the full study
MedPanel designed the survey, recruited and screened participants, and administered the study. Figures shown are drawn from the published article.