Global contract research organization (CRO) Worldwide Clinical Trials has forged a strategic partnership with medical genetics specialist Invitae. As part of the collaboration, Worldwide will use Invitae’s Explorer tool, part of its real-world data (RWD) platform designed to empower users with access to aggregated genetic testing results.
According to Rare Disease Day organizers, an estimated 300m people around the globe have been diagnosed with a rare disease; of those, about 72% of those diseases have genetic origins. For that reason, Worldwide offers a specific focus on rare disease research, which is one of its five significant therapeutic focus areas.
Derek Ansel—senior director of therapeutic strategy for rare diseases at Worldwide—told Outsourcing-Pharma that rare disease patients, their families, and caregivers face a number of challenges, in research and treatment.
“There are 300m people globally with a rare disease, but a rare disease is generally considered to be one that affects less than 200,000 people in the US (or 5 in 10,000 people in the EU) at any given time; this means that our patient populations are small; they are also often geographically widespread,” he said. “These are unique challenges when it comes to garnering access to rare disease patients, including understanding the patient diagnostic odyssey and finding patients to enroll in ongoing clinical trials.”
In addition to placing a burden on the patient, participation in rare disease trials often has a significant impact on the rest of their family, and trial teams must take these burdens into account.
“As many rare diseases are genetic and pediatric in nature, one often enrolls the entire family into a clinical trial, where family dynamics such as childcare become a central tenet,” Ansel said. “The average time for a rare disease patient to receive an accurate diagnosis takes an average of six to eight years. This lengthy diagnostic journey exacerbates enrollment challenges.”
Thanks to the collaboration with Invitae, Worldwide will gain access to data insights based on prevalence, incidence, demographics, geography, and epidemiology for rare disease patients. The intention is to enable Worldwide to recruit patients faster and pinpoint optimal study locations to help its sponsors uncover new and potentially life-saving treatments for people suffering from rare diseases.
“We now have access to genetic testing data that enables us to bypass some of these complexities through quicker patient identification – in essence, connecting the right patients to the right clinical trials at the right time,” Ansel added.
Peter Benton, Worldwide president and co-CEO, said, “Our unique access to Invitae’s database provides us with superior visibility to an aggregate-level view of patients we otherwise wouldn’t be aware of and enables us to offer advanced clinical trial strategies to our sponsors. This also helps us boost much-needed patient recruitment efforts, expanding our reach and ability to connect the right patients with the right clinical trial opportunities.”
“Our strategic collaboration enables Worldwide to gain valuable insight into the genetic etiology of rare disease to help shape and improve the future of clinical trials,” said Sean George, co-founder and CEO of Invitae. “Our cutting-edge tools empower Worldwide with the opportunity to set clinical trial strategies based on specific disease and geographic prevalence to yield the data needed to treat genetic disorders globally.”
“Invitae’s Explorer tool provides us invaluable access to aggregated genetic testing results, and this access arms us with the needed information to make well-informed, quicker decisions; find patients faster; and conduct clinical trials in more strategic ways,” Ansel commented. “This partnership is a game-changer for our sponsors and patients alike. We now have visibility of patients, diseases, and locations we otherwise wouldn’t be aware of.”