Pangea Data, a company focused on detecting rare diseases in patients, is partnering with Alexion, a subsidiary of AstraZeneca focused on treating rare diseases, to co-develop, clinically validate and ultimately seek regulatory approval for an AI-enabled offering to detect hypophosphatasia in adults.
“Alexion entered into a multi-collaboration agreement with Pangea a few months ago, which has allowed Pangea to configure its product platform to help close care gaps for a rare condition called hypophosphatasia,” Vibhor Gupta, founder and CEO of Pangea Data, told MobiHealthNews.
Hypophosphatasia is a rare inherited disorder that affects bone development and can lead to tooth loss in affected individuals.
The condition disrupts the process of mineralization, in which minerals like calcium and phosphorus are deposited in developing bones and teeth, leading to a deficiency in tissue-nonspecific alkaline phosphatase.
Mild forms of the rare genetic condition affect one in 6,000 to one in 7,000 people, according to the Cleveland Clinic. Severe forms affect one in 100,000 people to one in 300,000 babies born each year.
Together, Alexion and Pangea will leverage AI and clinical guidelines to develop the Artificial Intelligence Clinical Data Support System (AI-CDSS) aimed at accelerating the detection of hypophosphatasia by analyzing information within a patient’s electronic health record (EHR).
As rare diseases can be more challenging for physicians to detect, the time to diagnosis is often longer than for many more well-known conditions.
Gupta said that for hypophosphatasia, in particular, a patient’s dental records, their journey, family history, and basic lab results, including alkaline phosphatase (ALP) levels, are vital to obtain. However, these are not always readily available to physicians.
“As a clinician, you have 15,000 or 20,000 hard-to-diagnose conditions, and there’s a very high chance you would think about the things that you heard about, talk about the things that you know are rare conditions,” Gupta said.
“The idea would be that the technology is configured, validated and then deployed at the point-of-care, so clinicians can use it seamlessly in their daily work, rather than them having to go to another application or think about what’s really going on. The idea is not to disrupt their existing workflows, and equally, not be a burden on their existing technology stack.”
The collaboration between Pangea Data and Alexion, which was entered into in March, is in its first phase, where the pair are working with clinicians to define the configuration of the AI-CDSS platform.
“We are looking to engage with clinical peers who work on hypophosphatasia across a host of health systems in nine countries,” Gupta said.
“The idea is to work with them and align with their clinical and business priorities. You’re closing care gaps to improve patient outcomes, but the business priority is also important.”
At this point, Pangea’s AI-enabled platform is already capable of detecting 42 hard-to-diagnose conditions, such as Chronic Obstructive Pulmonary Disease (COPD) and ovarian cancer.
Gupta says that once the hypophosphatasia-focused program is deployed within health systems’ electronic health records (EHRs), diagnoses will be a quick process – eight to 10 minutes.
“As far as the physician is concerned, we are practically invisible. They don’t even need to switch a tab or switch an application because 10 minutes is a very short amount of time,” he said. “It’s something that will give them results pretty immediately.”
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