NATIONAL HARBOR, Maryland—Identifying patients with rare diseases and connecting them to the appropriate clinician can be challenging, panelists here at the 2023 World Orphan Drug Congress (WODC) suggested.

Catherine Nester, senior vice president, HCP and patient engagement at Inozyme Pharma, and colleagues are developing treatments for rare diseases, such as ENPP1 deficiency and ABCC6 deficiency—especially those for which there are no therapies.

Ivan Kouchlev, principal at the analytics company, and colleagues help companies such as Inozyme understand the patient populations they serve. Data offers insight into how these diseases manifest in patient populations, he noted.

“You can develop the best drug in the world, but if you cannot connect it to a patient, it really doesn’t matter,” Nester said.

“One of the diseases that we are working on, the patients could fall under a very broad group of physicians, from cardiology, neonatology, hematology, and it was just not practical for us to go out and figure it out on our own. So we were really looking for a solution that would give more focus to the work that we are doing. That’s how the connection to [artificial intelligence (AI)] became,” she said.

More from WODC 2023: Genome Sequencing Tests May Improve Diagnosis of Rare Diseases

Kouchlev noted that his company is able to help biotech customers answer questions like “What is the patient population size?” and “How long after diagnosis does it take to get treated?” In such situations, diagnostic codes might not work, he said.

Nester noted this approach not only identifies patients who have already been diagnosed with a particular condition, but it connects biotech companies to physicians who have patients that look like they may have a particular condition.

“Maybe they don’t realize that’s the disease they are caring for. There are over 7000 rare diseases. It is absurd to think every physician is going to recognize every one of those rare diseases, so sometimes it allows us to just go in and do education and make the connection that they are caring for a patient that fits the description for a particular rare disease,” Nester said.

In the end, this shortens the time it takes for a patient to get the diagnosis, she concluded.


Shortening the rare disease diagnostic odyssey with real world data. Presented at: World Orphan Drug Congress USA 2023: May 24, 2023; National Harbor, MD