As focus on rare and orphan diseases has expanded, so too has our expertise in collecting large sample, high-quality real world evidence. Due to the nature of rare diseases, real-world data are often required to understand the diagnostic challenges (e.g. misdiagnosis, unnecessary surgeries, referral delays) burden of illness (BOI), health-related quality of life (HR-QoL), impact on work and productivity, treatment access and availability, and overall unmet need in areas with limited therapeutic options.

Key to ensuring that rare diseases are fully understood is ensuring the patient and caregiver voices are heard throughout our work; we therefore actively engage patients and caregivers, and work alongside physicians working in these areas. This allows us to collect data that are meaningful and relevant to key stakeholders, which is especially important given there is a paucity of disease-specific patient reported outcome (PRO) tools and clinical endpoints.

We recognise and understand the challenges faced when working in rare diseases. Oftentimes, it is difficult to conduct research in areas where true prevalence is unknown and patients are more difficult to reach. Our reliable and reputable methodology ensures that representative sample sizes are captured, and that the most appropriate statistical methods are used to analyse these valuable databases.

To date, our databases covering >40 orphan indications, across 26 countries, with data captured from >8,000 treaters of rare diseases, for >40,000 of their consulting patients. With linked self-reported data for >12,000 patients and >1,200 of their caregivers.

So far, we have >120 publications using data from our databases covering rare diseases.
We are continually adding to these research programmes and can work collaboratively with client teams to understand feasibility for studies across all geographies. If you are interested in any of our current research programmes, or are interested in a rare disease not listed here, please contact us for more information.