Three hundred million people worldwide suffer from one of the 7,000 rare diseases referenced to date, including three million French people. Half are children below the age of five. A quarter of patients wait four years for a diagnosis, and 50% of patients remain undiagnosed. 

By the end of the year, general practitioners, pediatricians, and private practice specialists will be able to connect to a practical and easy-to-use online tool, AccelRare, by entering their patient’s clinical signs and symptoms to pre-diagnose one of the 270 rare diseases referenced there. AccelRare will display a list of the rare diseases associated with the symptoms described, as well as information on these diseases, and contact details for the nearest expertise center to direct the patient to the right care pathway.

“Our shared goal is to prevent diagnostic delay, and ultimately to incorporate all 7,000 rare diseases into the tool and make it accessible worldwide,” says Dr Loïc Etienne, Founding President of Medvir.

AccelRare is based on Medvir, an AI-driven pre-diagnostic software published by MIS (Medical Intelligence Service), a startup created in 2013 by emergency physician Dr Loïc Etienne. Medvir was originally targeted at common and urgent diseases. Its database includes 866 diagnoses, “equivalent to the average knowledge of a general practitioner. Medvir is an augmented human intelligence for physicians,” explains Dr Loïc Etienne.

“It is a long-term, win/win partnership that aims to reduce diagnostic delay. Sanofi is leveraging the tool developed by MIS, as well as their technological expertise, thereby saving a huge amount of time by virtue of their certification. The 270 rare diseases currently listed are just a start!” says Etienne Van der Elst, Digital Innovation Manager at Sanofi.

Sanofi has been active in the rare diseases space for 30 years, and markets eight treatments in the field. The French pharmaceutical firm had been looking for a strong partner since 2019, “a leader in the pre-diagnosis of common diseases, a certified medical device manufacturer with a good reliability record and a willingness to co-develop a new solution,” explains Etienne Van der Elst, Digital Innovation Manager at Sanofi. 

AccelRare is one of the 14 solutions to prevent diagnostic delay identified in the UniR white paper published in 2018 by Sanofi and a group of actors in the rare diseases community.