Avant Health and Rare Patient Voice Release Results from an International Survey
Revealing Rare Disease Patient and Caregiver Perspectives on the Diagnostic Journey
Two-thirds of rare disease patients and caregivers from four countries report that the
rare disease diagnosis took up to five years, while more than half of patients report being
misdiagnosed at least once
Bethesda, MD – A new survey of 800 rare disease (RD) patients and caregivers from the U.S.,
United Kingdom (UK), Spain, and Germany, was conducted by Avant Health and Rare Patient
Voice between February and April 2024. 66% of RD patients report taking up to five years to get
the RD diagnosed; this ranged between 74% (U.S) and 56% (UK). These results were part of a
survey asking RD patient/caregiver opinions about their diagnostic journey, access to
healthcare, and perspectives on living with a rare disease.
The participants were from four countries: 100 from Germany, 168 from Spain, 252 from the UK
and 280 from the U.S., with a median age of 44 years; 85% were female; 78% were RD
patients, 15% were caregivers of a RD patient, and 7% represented both patient and caregiver.
One in five respondents (21%) reported taking more than 10 years to get their RD diagnosed,
and it ranged between 15% (U.S) and 28% (UK). Overall, 54% reported being misdiagnosed at
least once, and it ranged between 46% (Germany) and 58% (UK); 72% reported difficulty in
finding a doctor specialized in the RD of interest, and it ranged between 67% (U.S) and 80%
(Germany). Two-thirds (67%) reported needing to see three or more specialists before receiving a RD
diagnosis, and it ranged between 62% (UK) and 79% (Spain). The survey further revealed that
34% of RD patients were denied diagnostic test/treatment for their RD, and it ranged between
25% (U.S) and 40% (Germany).
“The diagnostic journey for rare disease patients continues to be prolonged, and arduous. The
burden appears slightly higher in some of the surveyed European countries; results warrant
closer scrutiny to improve health care access and delivery for rare disease patients in
concerned geographies,” says Siva Narayanan, CEO of Avant Health.
For more information, please contact:
Dr. Siva Narayanan, Avant Health
Bethesda, MD, USA
snarayanan@avant-health.com
Laura Mullen, Rare Patient Voice
Towson, MD, USA
laura.mullen@rarepatientvoice.com
About Avant Health
Avant Health, LLC is a consulting firm and a CRO that advises life sciences industry,
sharpening the client’s commercial, scientific and evidence strategy formulation and execution,
accelerating their path to success. Avant’s approach integrates strategic insights with evidence
generation tactics to reflect on patient’s unmet needs and outcomes, and defend product value
propositions. For more information, please visit us at: https://avant-health.com.
About Rare Patient Voice
Rare Patient Voice, LLC provides patients and caregivers an opportunity to participate in all
types of research including market research, health economics outcomes and real-world
evidence, user experience/human factors studies, and clinical trials. RPV has over 145,000
patients and caregivers across more than 1,500 diseases, both rare and non-rare. For more
information, please visit us at www.rarepatientvoice.com.
