Few people realize that there are thousands of rare diseases impacting hundreds of millions of patients around the world, so, in fact, rare diseases are not so rare after all. As many rare disease patient-advocates call out the challenges in treating loved ones, organizations have formed to press government and research and development organizations to focus more attention on finding treatments and cures. As TrialSite has showcased on the Podcast with Cristian Rubio from Global Genes, over 300 million people worldwide are impacted with rare diseases, totaling over 30 million people in America alone. More studies are now underway thanks in part to a number of factors including various incentive programs. As highlighted in TrialSite, now about 33% of all drugs in active R&D pipelines fall into the rare disease category. But sponsors and those pushing for breakthroughs face a number of challenges with these studies, including scientific and operational challenges to sponsors as well as numerous hurdles experienced by clinical trial ecosystem participants. A recent partnership bringing together a virtual clinical trials platform with a rare disease patient program may support more rare disease clinical trials.
Definition of Rare Disease
A rare disease qualifies as an “orphan disease” and represents a medical condition that affects 200,000 or fewer people in the United States, or fewer than five per 10,000 in the European Union. The U.S. organization Global Genes estimated that over 300 million people worldwide are living with one of the approximately 7,000 diseases defined as rare in the United States.
Rare Disease Clinical Trial Challenges
Clinical studies for rare diseases present numerous challenges. From investigator training to data collection, researching rare disease is mired with condition-specific obstacles that slow development and place an enormous burden on patients waiting to participate in a potentially life-saving clinical trial, reports Science37 in its recent press release.
Recent Move by Virtual Trial Company
In a bid to strengthen the capability to support rare disease research, recently Science37, which positions itself as a leader in decentralized clinical trials, inked a deal with a global rare disease healthtech company called Xperiome. Moving forward, Science37 will leverage Xperiome’s insights from Raremark, a data-driven knowledge bank powered by patients, including a specialized matching engine to connect research-ready members to clinical trials and real-world study opportunities.
Now the hope here is that by combining the Science37 virtual clinical trial platform in combination with Xperiome’s in-depth rare disease patient communities can support more of these important studies.Science37 supports greater study participation via use of telehealth and other enabling technologies and supporting processes, making it easier for a patient to sign up and stay in a clinical trial.
Most studies struggle with patient retention, and this problem is magnified in rare diseases where patient burden is even greater. Jeremy Edwards, CEO of Xperiome, stated, “Current site-based models can cause unnecessary burdens to patients, and these burdens could potentially stop them from taking part in clinical research. He continued, “Science 37’s unique technology-based Operating System, along with its mobile nurses and telemedicine investigators’ networks, enables in-home data collection and exams while maintaining interaction with clinicians, giving rare disease patients the option to participate in trials regardless of where they live in the world.”
What is Xperiome’s Raremark?
Raremark is a rare disease patient platform where patients, parents, caregivers and experts come together in a sort of crowdsourced platform to develop and disseminate information about rare disease that helps everyone better understand and manage, not to mention talk about the rare condition that’s a part of their life.
Raremark has been designed to help elicit information from members that can help inform the medical and research community, as well as patient and caregiver interests, in a myriad of ways. Members are invited to answer many questions, in many cases ones that are quite personal, about their life, how they get by, daily plans and tasks, and more. The more questions a patient (or parent) answers, the more they contribute to a free, one-of-a-kind growing library of rare disease insights. Xperiome is the supporting platform.
There are many sponsors competing for patients across America and beyond as ever more numbers of clinical trials are set up, yet the number of obstacles to efficient and effective operation of such trials continue to mount as, despite technology breakthrough and regulatory incentives, new innovative ways must be established to bring together the right trial with the right patient.
Call to Action: For more information, see Raremark.