Last October 28th, Barcelona Health Hub organized the #BHHSummit 2021 about the centric topic of the Patient of the Future. During the event, partner Alexion organized a successfull virtual roundtable session titled “The Potential of Artificial Intelligence in the Diagnosis of Rare Diseases”.  

We have the pleasure to look back at the event with Leticia Beleta, General Manager Iberia of Alexion, AstraZeneca Rare Disease. 

Tell us who you are and what is your relationship to digital health?

As the Managing Director for Portugal and Spain of Alexion, AstraZeneca’s Rare Disease Business, I lead a team of about 60 people here in Barcelona and Lisbon dedicated to serving patients living with a rare disease in Spain and Portugal.

Alexion is a specialist in rare diseases and besides developing innovative treatments, we are also passionate about helping to raise awareness about rare conditions and trying to address, together with the collaboration with many different partners and stakeholder’s, unmet needs of those living with rare diseases. 

Why did you decide to join the #BHHSummit 2021 about the Patient Journey?

We believe the #BHHSummit 2021 was a good platform to share information about Alexion’s commitment to supporting digital innovation through partnership like the one we have with BD Care, developing an Artificial Intelligence-based system to help improve diagnosis in rare disease like Lysosomal acid lipase deficiency  (LALD)  in hospitals.

Why is rare disease education so important? What are the main challenges?

Rare diseases are the great forgotten ones, as they may not affect a large part of the population, however, the impact on patients, their families and society is profound.

In my view there are three main challenges:

• First, rare diseases are difficult to diagnose, since they do not have specific symptoms that make them easy to detect and are often confused with other diseases, not reaching a real and concrete diagnosis in time to allow appropriate treatment that can ensure the patient’s improvement and therefore, their quality of life. 
• Second, there is a lack of awareness in public and also in research, since, due to their low incidence, geographic dispersion, limited therapeutic options and access barriers, they are poorly represented in basic and clinical research, making their diagnosis, which is often late, even more difficult. 
• Third, therapies for people living with a rare disease are only available for 5% of more than 7.000 rare diseases and this situation needs to change.

How do you believe Artificial Intelligence can be applied in the healthcare sector? How does Digital Health factor into your solutions? 

The application of AI can be found in fields such as diagnosis, treatment, prediction of each disease up to administrative practices. The capability of the AI algorithm can be used to overcome some of the major challenges of rare diseases and help identify more patients, earlier, and ultimately also drive the development of therapies, as there is an urgent unmet need; we know that there are more than 7,000 rare diseases known worldwide, but only 112 drugs exist to palliate the symptoms, according to the EMA. 

It is in the interest of pharmaceutical companies like Alexion for hospitals to have this technology because they can reach a larger number of patients in order to develop clinical trials for each disease. It can also serve to encourage the development of new drugs and treatments with the incorporation of new data and knowledge.

In your session you looked at the challenges for patients living with a specific rare disease, called Lysosomal acid lipase deficiency (LALD). Could AI-based systems, like the one from BD Care, help to identify LAL-D patients earlier and if so, how?

Francesc Cayuela, CEO and Founder of BD Care would be the better person to answer this question, but what I can say is that at Alexion, we are trying to support solutions, like with this application, that help address the diagnostic issue. On average, a patient in Spain waits up to 4 years to obtain a diagnosis, in 20% of cases it takes 10 or more years to achieve an accurate diagnosis. Those affected see a doctor on average seven times before they are diagnosed. Since rare diseases do not have specific symptoms that make them easy to detect, they are often confused with other diseases, not reaching a real and concrete diagnosis in time to allow appropriate treatment that can ensure the patient’s improvement and therefore, their quality of life.

Interested to see more of the session of Alexion? You can watch the full session here: