July 23, 2024 | A new web-based platform aims to standardize the care of rare disease patients in a wide range of settings and accelerate their diagnostic journey. The Rare Disease Clinical Activity Protocols (RareCAP) is effectively a collection of the latest research-based information and guidance about some of the more than 7,000 conditions affecting a small number of people, according to Mike Denne, vice president of U.S. medical affairs for rare disease and plasma derived therapies at Takeda.
Although RareCAP only launched last October, the protocols have already had over 2,000 views—an impressive number given these relate to uncommon conditions that often lack definitive treatments, he says. Takeda has committed $3.85 million to the project to help launch and sustain the first-of-its-kind initiative.
Work on the platform began in 2021, driven by the passion of rare disease experts from Children’s National Hospital (Washington, D.C.) and Vanderbilt University Medical Center (Nashville), says Denne. Up until then, individuals with a rare disease who needed medical help or wanted to understand what they were up against had to search for answers de novo.
Now more of them will have access to a “one-stop shop” for curated, dependable content anytime, anywhere. If they need to make a trip to the emergency room or to another facility outside of their normal pathway, they can download a QR code on their phone to make this treasure trove of information instantly available to those clinicians as guests on the platform, he continues.
“Over 50 published protocols are in the system and accessible to the outside world with another 25 in development,” reports Denne, who has worked in the rare disease space for more than a decade. “The ultimate goal is to profile thousands of rare diseases and lay out the implications for care while also... [providing an] opportunity for dynamic conversations among users who can offer updates and learn from one another’s real-world experience and for that to happen in the most equitable way possible for patients around the globe.”
Due to recent advances in diagnostic techniques, the number of well-documented rare diseases is by some accounts quickly approaching 9,000, says Denne. Some of them are so rare that only a few people in the world have them. Part of the rationale for RareCAP is to link together the limited number of experts in such a way that they learn from one another and “build some degree of consistency and improvement in the way we provide care to [people with] these ultra-rare diseases.”
Takeda’s reason for supporting RareCAP is primarily altruistic, he says, noting that the over 240-year-old company has a longstanding commitment to developing medicines for difficult-to-diagnose rare diseases. In a December 2021 landscape report, the company states that 40% of its marketed treatments are for rare diseases and more than half of its pipeline products have an orphan drug designation.
The platform adds value for rare disease patients, including those who have yet to be diagnosed, says Denne. If undiagnosed patients or their caregivers end up in an emergency department with a collection of symptoms suspected to be caused by a rare disease, doctors there might rule in or rule out that possibility using RareCAP as a reference tool. The protocols outline what to look for, what tests to consider, and where to refer them to continue longer-term care.
In the same scenario, but for people who already have a diagnosis, “the patients themselves can be advocates for RareCAP” using the QR code, he continues. RareCAP might similarly be used during visits with other providers unfamiliar with their rare disease, including primary care and specialty physicians. As imagined by its creators, the platform might also find utility in settings as varied as surgical suites, urgent care clinics, and schools.
Although there frequently is no recognized therapeutic to solve a patient’s core problem, RareCAP provides guidance on supportive care that can be “quite complex and involve a number of body systems,” says Denne. The protocols embody the experience of multiple experts in a particular rare disease.
Over time, the platform will continue to grow as a center for clinical dialogue, he says. Debra Regier, M.D., chief of genetics and metabolism at Children's National Hospital and director of the RareCAP medical advisory board, has indicated that as the database grows, she would like to start using generative AI and other digital technologies to further streamline the information retrieval process for protocol users, he adds.
Work on the RareCAP initiative was initially focused on building the platform and seating a medical advisory board to help with content curation, clinician engagement and outreach strategies, and setting priorities around protocol development efforts, says Denne. Launch of the platform happened in “shocking time,” a testament to the boundless enthusiasm of professionals in the tight-knit rare disease community.
Although curation of the protocols is initially falling to a core internal group of experts, it’s likely others will readily sign up to take on protocol development moving forward, he adds. The expectation is that “the passion catches fire, and [the platform] continues to grow, maybe exponentially in the coming years.”
Only registered users of RareCAP can contribute content to the platform and any comments or other additions they make to the existing protocols are reviewed by the medical advisory board or the full-time rare disease clinical protocol curator (Jennifer Micham, Ph.D., RN, with the Vanderbilt Institute for Clinical and Translational Research) prior to posting to be sure they are “justified or otherwise appropriate and added correctly,” notes Denne. For consumers of the information, who have no need to contribute to the protocols, the platform is designed so they can quickly fetch what they need to take care of the patient in front of them.
Currently, there are no plans to use the database to support clinical trials, Denne says. “However, a researcher could choose to come in and develop a treatment protocol that they may want to test in a clinical trial program using the collective expertise that has been captured here.”