Rare diseases start early in childhood and tend to get overlooked because they mimic common childhood illnesses, said a Sanofi India executive, explaining the significance of their AI-driven pre-diagnosis tool that will soon be available to more healthcare practitioners.
“The initial identification and first consult with the doctor is always late,” further delaying diagnosis and treatment, said Milan Choksey, Sanofi India’s Medical Lead (Rare Diseases Business). By then, irreversable damage has taken place, he adds. Sanofi’s AccelRare tool helps whittle it down to the top five diagnosis of the child, in a matter of 10 minutes, Choksey told businessline, adding that all patient data was anonymised.
Diagnosis Accuracy
The medical practitioner provides information on patient’s symptoms, medical history, and test results etc to the free web-based platform and receives a diagnosis covering 310 rare diseases, with an 88 per cent accuracy. “The tool then provides a complete description of each suspected disease, recommends complementary diagnostic exams”, besides providing government-recognized centres, as referral options, the company said.
The country has about 450 to 500 identified rare diseases, said Choksey, and Sanofi is looking to make the digital tool available to paediatricians and general physicians, among others.
Software as medical device
“Co-developed and validated by 67 rare disease experts across 13 rare disease networks, AccelRare is built on MedVir, which is certified as a Class I medical device in Europe,” the company said. In India, AccelRare is approved as a web-based pre-diagnostic tool for suspected rare diseases and classified as a Class A (non-sterile and non-measuring) medical device. It is free, requires no registration, and collects no patient identification data, it added.
India is home to an estimated 72-96 million people living with a rare disease, Sanofi said. “Yet according to the Indian Organisation of Rare Diseases (IORD), 43 percent of Indian doctors have never encountered a rare disease patient,” it added.
The tool is a second opinion, available at the moment of clinical suspicion, “before a child is lost to years of inconclusive testing,”says Choksey. “This matters because as a physician, I know what it means to face a child with unexplained hepatosplenomegaly or persistent thrombocytopenia – symptoms that in a busy, general paediatric practice seeing hundreds of children every week, can so easily be attributed to a common infection like dengue or a routine haematological finding. The clinical reality is that rare diseases hide in plain sight,” he said.
(eom)
Published on May 27, 2026