Ubie AI aims to improve diagnosis of rare disease Cushing’s

People with the rare disease Cushing’s syndrome can sometimes take years to get a diagnosis, but a new project hopes to shorten that timeline with the help of artificial intelligence.

The alliance between the Cushing’s Support and Research Foundation (CSRF) and digital health company Ubie will validate and fine-tune symptom checker software that they hope will help patients reach a diagnosis more quickly.

Cushing’s syndrome is caused by an excess in cortisol in the body, which can either come from protracted use of corticosteroid medicines or – in a subset of patients with what is called Cushing’s disease – is caused by a benign tumour in the pituitary gland.

Symptoms are variable and include weight gain, high blood pressure, bruising, a build-up of fat on the shoulders known as a ‘buffalo hump’, bone loss, brain fog, and diabetes, with depression also seen in a majority of patients.

If untreated it can be fatal, but detecting it is complicated by the fact that it is rare and can be caused by multiple factors, even alcoholism and severe long-term depression. That means patients may visit numerous specialists over many years before arriving at a diagnosis.

Most endocrinologists treat few or no people with Cushing's in their entire careers, as there are estimated to be only around 50 cases of Cushing’s syndrome per million people diagnosed in the US annually.

Ubie’s AI Symptom Checker software will be put through its paces in a validation study by CSRF’s community of patient advocates, who will test its accuracy and provide feedback that should make it better at predicting whether a person has Cushing’s.

The hope is that it will become a powerful screening tool to direct undiagnosed patients to CSRF resources that will put them on the path to clinical care. To date, the CSRF and Ubie have already refined a web-based quiz designed to predict Cushing’s.

“Cushing’s is considered the most difficult endocrine disease to diagnose and treat,” commented CSRF president Leslie Edwin. “An AI disease predictor can be a game-changing tool if it is trained by people living with the disease, and we appreciate the opportunity to work with a company whose mission is aligned with the needs of our community, including earlier treatment and better quality of life.”

Ubie’s tool was launched in 2022 and was used more than two million times in just over a year, with pharma companies – including Takeda, Boehringer Ingelheim, and Pfizer – tapping into its potential to identify patients who may be eligible for treatment with their medicinal products.

Last month, Ubie added to its capabilities with the launch of Checkup, a platform that aims to help patients manage their health conditions by tracking measurements, medication, and appointment reminders, and providing a communication channel with healthcare providers.