Novartis taps Atropos AI for earlier PNH diagnoses

Novartis has joined forces with real-world evidence (RWE) specialist Atropos Health, hoping to improve the diagnosis of people with rare disease paroxysmal nocturnal haemoglobinuria (PNH) through the use of AI.

Under the terms of the collaboration, Atropos will "build, train, and evaluate" multiple models that they hope will speed up PNH diagnoses and the onset of treatment for the disorder, in which the body's complement system destroys red blood cells, leading to anaemia and fatigue and, in some cases, the need for regular blood transfusions.

Novartis is in the commercial rollout phase for an oral PNH treatment, targeted Factor B inhibitor Fabhalta (iptacopan), which is growing fast as an alternative to injectable or intravenous treatments like AstraZeneca's complement C5 inhibitors Soliris (eculizumab) and Ultomiris (ravulizumab), Apellis' C3 inhibitor Aspaveli (pegcetacoplan), and Roche's C5 inhibitor PiaSky (crovalimab).

Adults with PNH often experience lengthy delays before they get a diagnosis – sometimes as long as five years – because the disease is rare and causes variable symptoms across multiple organ systems.

Accelerating diagnosis using AI could reduce the time from symptom reporting to testing, diagnosis and treatment, and potentially help Novartis build towards its lofty peak sales hopes for Fabhalta – currently modelled at around $3 billion a year. The company has suggested that having an oral treatment option can "reset the expectations" of people living with PNH.

According to Palo Alto, California-based Atropos, its researchers have already come up with an initial AI model that has shown promise in detecting PBH earlier by analysing symptoms such as anaemia, age, haemoglobin, creatinine, and haptoglobin counts, and diagnostic and medication history.

"Building AI models tested and trained on high-quality real-world data is truly the next frontier in precision medicine," said Dr Brigham Hyde, Atropos' chief executive and co-founder.

"The accuracy of the models reduces the guesswork, and patients who are able to get testing sooner provides a potentially life-changing experience," he added. "For providers and health systems, faster time to diagnosis and treatment equate to higher patient satisfaction."

It is estimated that approximately 10-20 people per million worldwide live with PNH. It can develop at any age, though it is often diagnosed in people between 30-40 years old. Despite treatment with complement inhibitors, a large proportion of patients can remain anaemic and dependent on blood transfusions.