Volv Global Blog

Deploying AI in the real world to find rare disease patients: challenges and opportunities

Presentation - Tuesday 12th July 2022 at 16:15 to 16:35

• Recap on what inTrigue is and what it has delivered to date.
• An introduction to the challenges of deploying AI methodologies in real-world settings.
• In order to help clinicians diagnose earlier, we need to factor many things into our deployment planning.
• Earlier diagnosis means working in primary care or identifying the relevant treating physicians.
• Using two rare diseases we will discuss some of the challenges that inTrigue overcomes.
• Anyone interested in preparing their US or EU markets for an increase in the successful diagnosis of rare disease patients will be interested in this session.

Credit Photo by Pietro Jeng Selfors on Pexels

Rare disease drug developers face significant challenges during clinical development, from finding patients to conduct their trials to addressing heterogeneity in the target patient population. To help rare disease innovators establish a better clinical development strategy, Volv is co-conducting an in-depth Workshop at the World Orphan Drug Congress (WODC) Boston, USA, which is being held between the 11th to 13th July 2022. Come and meet us at Booth #318.

Join us at our Workshop on Monday 11th July 15:00 to discuss:

Putting AI to work for rare diseases: How can AI inform better Clinical Development strategy, design, and patient stratification?

The Workshop will consider AI’s potential with inClude, for revolutionising how companies operate in the rare disease space. Areas that will be explored include:

• novel approaches to obtaining new insights,
• uncovering new information from claims data,
• ways to better define target patient populations and novel endpoints, and
• gaining new insights into the disease earlier in its progression.

Download the Workshop Agenda here:

Credit Photo by Caroline Selfors on Unsplash

Over the past year, many of you have joined us on a voyage of rare disease discovery. We have shared the huge challenges facing the rare disease community – from patients and their carers, clinicians and the companies developing life-saving treatments for patients in need.

How those challenges are framed varies depending on the stakeholder, but they boil down to the same issue: searching for, accurately identifying, diagnosing, and treating patients with rare and ultra-rare diseases. The difficulty is compounded by the fact that there are as many as 9,332 unique rare diseases and 21,582 synonyms, according to data from Orphanet.

We have described the ability to pick out patterns to identify patients with rare diseases as being a bit like identifying thousands of constellations of stars: Neither is within the scope of the human eye and both require extremely advanced technologies to even begin to decipher and separate patterns.

Yet to research and develop innovative products for rare diseases, companies must find ways to identify populations of patients for study purposes. And as the millions of patients with rare diseases and their families know all-too-well, the wait for a diagnosis, much less treatment, can be painfully slow, with symptoms often missed or not well-understood by the doctors that they see. Over the summer, we have shared real-world stories with you from patients with rare diseases and conditions or from the parents of children with debilitating rare diseases.

We shared Paul’s battle to get his narcolepsy recognised, diagnosed, and treated and the huge battle he faced professionally and medically. Tamsyn shared her difficult journey with getting the recognition, treatment and support she needed for her rare condition, Poland Syndrome, and how the poor understanding of her condition by healthcare professionals led her to studying biological sciences at university and to her passion for work in the rare disease space. And Bernd shared his story as a parent of a child with Alström syndrome and his battle to get his son, Ben, the support he needs.

Painting called 'The Rain' by Ben Rosenbichler

Rare disease patients and the journey to diagnosis, treatment, and support

For patients with rare diseases and their families, the journey from dealing with symptoms to diagnosis and eventually – where possible – to treatment is often a painfully slow one. Most find their conditions are unknown or poorly understood, that the effect on their lives is not properly recognised or sometimes even dismissed, and that the support they receive is woefully inadequate.

Better patient care, diagnosis and treatment depends on improving knowledge about the more than 9,000 rare diseases and conditions that have been catalogued (at last count on Orphanet, the number was 9,332 unique rare diseases and 21,582 synonyms). Since the human brain cannot keep track of that many conditions and heterogenous symptoms, Volv Global SA believes its inTrigue methodology using AI is another way to profoundly change the patient experience for the better. Alongside this highly scientific approach, it is also vital to understand and record the patient voice.

Over the next three months leading up to the World Orphan Drug Congress Europe 15 - 18 November 2021, Volv Global SA will share the personal journey of some individual patients to specifically highlight the profound knowledge that they have about their rare disease and the wide-ranging impacts such a disease can have on them and their families. These patients and thousands of others like them are the people best placed to help us to make our organisations truly patient-centric.

Rare disease patients and the journey to diagnosis, treatment, and support

For patients with rare diseases, the journey from dealing with symptoms to diagnosis and eventually – where possible – to treatment is a painfully slow one. Most find their conditions are unknown or poorly understood, that the effect on their lives is not properly recognised or sometimes even dismissed and that the support they receive is woefully inadequate.

Better patient care, diagnosis and treatment depends on improving knowledge about the more than 9,000 rare diseases and conditions that have been catalogued (at last count on Orphanet, the number was 9,332 unique rare diseases and 21,582 synonyms). Since the human brain cannot keep track of that many conditions and heterogenous symptoms, Volv Global SA believes its inTrigue methodology using AI is another way to profoundly change the patient experience for the better. Alongside this highly scientific approach, it is also vital to understand and record the patient voice.

Over the next three months leading up to the World Orphan Drug Congress Europe 15 - 18 November 2021, Volv Global SA will share the personal journey of some individual patients to specifically highlight the profound knowledge that they have about their rare disease and the wide-ranging impacts such a disease can have on them and their families. These patients and thousands of others like them are the people best placed to help us to make our organisations truly patient-centric.

How we find the 50% of undiagnosed patients

An AI-based approach to drive earlier disease diagnosis and a case study

1. Understand the burden of diagnosis for rare and heterogenous diseases from the clinician’s point of view.
2. How we can make a difference with AI, to help ease the burden of misdiagnosis for all stakeholders, clinicians, and patients alike.
3. Case study summary: presented at The International Society for Pharmacoepidemiology (ISPE), for Fabry disease in the Netherlands

Download the Presentation here:

Photo by Dan Asaki on Unsplash

Rare disease patients and the journey to diagnosis, treatment, and support

For patients with rare diseases, the journey from dealing with symptoms to diagnosis and eventually – where possible – to treatment is a painfully slow one. Most find their conditions are unknown or poorly understood, that the effect on their lives is not properly recognised or sometimes even dismissed and that the support they receive is woefully inadequate.

Better patient care, diagnosis and treatment depends on improving knowledge about the more than 9,000 rare diseases and conditions that have been catalogued (at last count on Orphanet, the number was 9,332 unique rare diseases and 21,582 synonyms). Since the human brain cannot keep track of that many conditions and heterogenous symptoms, Volv Global SA believes its inTrigue methodology using AI is another way to profoundly change the patient experience for the better. Alongside this highly scientific approach, it is also vital to understand and record the patient voice.

Over the next three months leading up to the World Orphan Drug Congress Europe 15 - 18 November 2021, Volv Global SA will share the personal journey of some individual patients to specifically highlight the profound knowledge that they have about their rare disease and the wide-ranging impacts such a disease can have on them and their families. These patients and thousands of others like them are the people best placed to help us to make our organisations truly patient-centric.

When Florence Nightingale returned from the Crimea to London in 1856, she set about publicising her statistical findings as well as her proposed medical reforms. But she was aware of the limited effect one person could have on practices within the armed forces and the nursing profession.

The first year (shown on the right of the diagram) was 1854–5, following her arrival in the region. The second (on the left) was 1855–6, after she had implemented a series of reforms to the hospital and nursing practices.

In her diagram, each wedge represented a month, and the area of the wedge showed the number of soldiers who had died that month. The blue area showed deaths from preventable diseases picked up in the terrible conditions at the Crimea. Red sections showed deaths from battlefield wounds. Black areas were deaths from other causes.

Readers could see two things. The first was that the reforms Nightingale implemented and campaigned for had made a huge positive difference to mortality. The second, and more shocking result, was that more soldiers died from preventable diseases during the war than from injuries.

Today, we are used to seeing statistics presented in graphical form. Infographics are common in newspapers, magazines and online. However, in 1850s Britain, the approach was revolutionary.

Credit: Thanks to the Science Museum, London for the inspiring image above and content. 

Executive Summary

To acknowledge Rare Disease Day and the struggles facing patients with rare diseases, the World Orphan Drug Congress hosted a webinar titled, “How can AI impact industry?” The session, which explores the role of real-world evidence (RWE) to improve orphan drug development and access, brought together leaders in their field with deep knowledge of rare diseases and the importance of RWE in helping to identify the right solutions for the right patient.

During the discussion, several important and often overlooked themes were brought to the fore. The purpose of this paper is to explore these in greater depth and share the unique insights from the panel. These include the integral role of the patient in owning, managing, and deciding when, how and where to share their data. Certainly, a patient-focused approach that safeguards the individual’s privacy and ensures consent, is paramount if researchers and drug developers are to make full use of RWE to find therapeutic approaches and cures for rare diseases. In addition, the industry will need to address data sharing issues and legislative barriers and ensure they fully engage the regulators to bring therapies to patients in need. The paper provides a thoughtful and balanced discussion of these topics and aims to seed further insights as drug developers, clinical research experts, regulators, artificial intelligence specialists and, crucially, patients and their carers, seek to leverage tools such as RWE to help the millions of rare disease patients in need worldwide.

 

The journey from first symptoms to diagnosis is a long one for most patients with rare diseases. According to a survey from EURODIS, 25 per cent of patients with among the most common rare diseases waited between 5 and 30 years for a diagnosis and 40 per cent were misdiagnosed during that time.

There are many reasons why diagnosis is so challenging. One is that most physicians have limited knowledge about rare or ultra-rare diseases. Another is that as many as 60% of rare diseases present with significant heterogeneity of symptoms, making it extremely difficult to diagnose patients early enough in their disease progression.

A third barrier to diagnosis can often be attributed to the complexity of the diagnostic test currently available. For some rare conditions, deep muscle biopsies are still used for diagnosis and for some rare heart conditions, stents are often the only commercial diagnostic tool available to accurately identify a condition.