The rare disease is not well understood by the academic or clinical fraternities. This means it is very frequently misdiagnosed as cancer or autoimmune disease. Even when it is diagnosed correctly, there are few guidelines available on how it should be managed.

The disease is also very heterogeneous in expression in terms of frequency, duration and severity of exacerbations. This heterogeneity occurs at both the inter-patient and intra-patient levels. A patient may respond well to given treatment during one exacerbation, but then not respond to it in another exacerbation.

This high level of heterogeneity coupled with the relatively small sample size can make it challenging to conduct robust analyses on these data; the results are very sensitive to each assumption or parameterisation of the data made. To be able to ensure the optimal set of assumptions and parameterisations are selected, it has been agreed with our client that preparing a case study on each of the 111 patients is the best approach.

We have identified that creating an infographic summarising each patient’s clinical journey, accompanied by a textual description, is the most effective way to present and convey the data-rich information about each patient: periods of exacerbation, medicinal treatments received, surgeries received, hospitalisations, adverse events, etc. This allows our client to immediately recognise key take-away messages about each patient in a single glance before they then look to the text to understand the detail.

We are proud of its ability to devise novel ways to analyse and present unconventional datasets. If your project involves complicated data and analyses, please get in touch to explore how we could help.