Patient identification: a structured medical methodology
In the realm of orphan diseases, properly diagnosed patients often represent only the tip of an iceberg. Most patients, misdiagnosed or not diagnosed at all, follow an odyssey, frequently lasting several years after the first signs of the disease onset.
For this purpose, based on our experience of ultra-rare diseases, we have developed a structured medical methodology to locate misdiagnosed or undiagnosed patients in the real life and improve clinical trials, early access programs, or business development.
Our methodology is the result of our experience of both clinical practice and elaboration of strategies of patient identification in several ultra-rare diseases. This experience serves us as a prism to filter and analyze data and processes.
It starts with an in-depth assemblage of whatever pieces of information we can find from the medical literature, the reality of patient management and environment, to generate practical knowledge.
This drives us to an enhanced understanding of disease history and patient journey, and of the reasons why patients with a masquerading disease get lost in the medical shuffle. Reservoirs of potential patients and the diagnosis pathway are then identified for targeted strategies and medical activities to leverage the process of patient identification.