Rare diseases are more common than many people think, with an estimated four million people affected in Germany alone. One major problem is that rare diseases are usually incredibly difficult to diagnose. However, an early diagnosis is vital and often a race against time for sufferers.
Innovative diagnostic approach
With its innovative approach, intermedix is helping doctors detect rare diseases earlier. The WICOM Assist is a digital assistant in the Physician Information System. Based on numerous individual parameters it can automatically identify correlations and actively help doctors with a diagnosis. The aim is to highlight possible correlations for doctors while providing them with all relevant information in the usually busy surgery setting.
Complex process
WICOM Assist detects rare diseases by establishing complex links between disease-related criteria. The digital assistant continually analyses in the background all key parameters such as laboratory results or patient symptoms. This data is then used to determine the likelihood of a specific rare disease. A sophisticated process first analyses the latest research findings, guidelines and expert interviews for each condition and integrates this data into the system. Close cooperation with drug manufacturers plays a major role when setting up the assistant, as their specific specialist and research knowledge underpins the WICOM Assist.
Success story: detecting the rare disease CTX
The digital assistant for detecting the rare disease “cerebrotendinous xanthomatosis” (CTX) illustrates just how efficient this collaboration is. This rare congenital metabolic disorder prevents the synthesis of important bile acids, resulting in deposits of cholestanol and cholesterol in the central nervous system (CNS) and other tissues. A diagnosis made too late may cause disabilities, while early treatment enables sufferers to lead a largely normal life. In close cooperation with drug manufacturer Leadiant GmbH a suitable diagnostic assistant for CTX was programmed in the WICOM Assist.
“The WICOM Assist stands out with its substantial value added for doctors and ultimately for the patient. We can help doctors from the various specialties diagnose CTX in an individual, targeted manner. That’s very important as the symptoms are non-specific. Patients will encounter various specialists over the course of their care. Each of these practitioners faces different challenges in terms of diagnosis,” explains Silvia Ilmberger, Senior Product Manager at Leadiant.
The digital assistant therefore aids diagnosis and provides information on the disorder. intermedix helps counteract subsequent patient disability through early diagnosis.
“Thanks to the WICOM Assist we actively help doctors with the otherwise very complicated process of diagnosing rare diseases,” says Christian Senger, General Manager of intermedix GmbH. “Our aim is to intensively develop the assistant’s expertise in close collaboration with doctors and pharmaceutical manufacturers so we can help as many patients as possible.”
Leadiant GmbH is a wholly owned subsidiary of Leadiant Biosciences Ltd. with headquarters in the United Kingdom. Employees throughout the Group are engaged worldwide in the research, development and marketing of drugs to treat rare diseases. Patients with rare diseases will often have endured a “diagnostic marathon”, denied access to the right treatment for years. Leadiant GmbH is committed - not just to supplying drugs - but also to raising awareness of rare diseases so that patients can be diagnosed early and receive the right treatment.
