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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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:

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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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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.

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.