Volv Global Blog

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Executive Summary

For decades, the pharmaceutical industry has faced the same recurring problems with clinical development: the struggle to fully recruit and retain enough patients, meet target timelines, and have trials conclude on time.

Certainly, the industry does overestimate its ability to recruit, but a bigger issue is that study designs and protocol development seemingly fail to truly reflect patients’ lives, or account for the reality in the clinic. In fact, data shows the probability of success for any clinical development effort is 6.2% for orphan drug trials, compared with 13.8% overall, which translates to a 93.8% failure rate for orphan drug development efforts.

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Enlightened breakthroughs...

More than 350 million people live with rare disorders, that is, a condition with which fewer than 200,000 have been diagnosed. About 80 percent of these rare disorders are genetic in origin, and 95 percent have no treatment approved by the FDA.

Our ability to better understand, diagnose and potentially find treatments for these conditions was significantly advanced by the Human Genome Project (HGP). From October 1990 until its completion in April 2003, the HGP brought together a team of international researchers who collectively defined over 90% of the human genome [i].

However, it would be fair to argue that the journey to understanding the human genome began with Gregor Johann Mendel, who is now recognised as the father of genetics. Born 200 years ago, in 1822, Mendel put his interest in plant genetics into practice with pea plant experiments conducted between 1856 and 1863, which established many of the rules of heredity, now referred to as the laws of Mendelian inheritance [ii].

His work was published in 1866 but was then forgotten about until 1900, when three researchers, Hugo de Vries, Carl Correns, and Erich Tschermak, independently realised the meaning and importance of Mendel`s groundbreaking work.

Mendel’s theories were finally associated with human disease by Sir Archibald Edward Garrod, who published the first findings from a study on recessive inheritance in human beings in 1902 [iii]. In 1909, the term “gene” was introduced for Mendel’s “traits” [iv].

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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 Marc Zimmer on Unsplash

It’s time to rethink...

Throughout my career in the pharmaceutical industry managing clinical trials and study programs, I have been confronted with the same recurring problems. Trials struggle to recruit and retain enough patients, they fail to meet target timelines and the vast majority don’t conclude on time.

There are some staggering statistics in the industry, for example, 86% of clinical trials don’t reach recruitment targets in the specified time and 90% of clinical drug development fails.

One obvious reason for these shocking figures is that the pharmaceutical industry overestimates its ability to recruit. But, more troublingly, study design and protocol development seemingly fail to truly reflect patients’ lives or account for the reality in the clinic.

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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

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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.