RARE-X Convenes RARE-X Exchange, Organization’s Inaugural User Conference

Ryan Colburn has a penchant for things that go fast. He’s worked as an engineer on racecars, airplanes, and rockets. Like many rare disease patients, though, he’s frustrated by the slow pace at which advances on the understanding and treatment of rare diseases are being made.

“In rare disease, we’re often told ‘Oh, there’s not enough data,’ or ‘There’s not enough people,’ or ‘There’s not enough, there’s not enough, there’s not enough,’ said Colburn, who has late-onset Pompe disease, a lysosomal storage disease that causes muscle weakness. “When we talk about Big Data and rare disease, it’s just trying to figure out how we can take these real-world problems and translate them into questions and things that we can study and multiply those data sets by orders of magnitude so that we can have a more powered study and not just accept these answers about our diseases that are based on underpowered studies.”

For instance, Colburn realized that the incidence rates for Pompe disease were outdated. The current incidence rates were based on 3,000 newborn screening tests performed 20 years ago. Today, though, there is routine newborn screening for Pompe disease. Colburn gathered 11.6 million newborn screening test results from around the world to establish a current incidence rate in Pompe and, along the way, created a path to unlock publicly available genetic data sets to allow researchers in other rare diseases to determine incident rates in conditions of interest to them.

Colburn spoke as part of a panel at the RARE-X Exchange Forum that considered the transformation of rare disease into a Big Data opportunity. The inaugural user conference for patient innovators on the RARE-X platform was held in San Diego on September 14 and 15. It provided an update on progress made at RARE-X, as well as insights into how innovators in the rare disease community are leveraging data to gain a new understanding of rare conditions, improve the speed at which a diagnosis is made, and accelerate the development of treatments.

“Those of you in the room have made a decision to be active participants in driving research. You’ve recognized your role and the importance of patient-level data in supporting the critical research that we know is so important to provide what biopharma researchers need to help accelerate future therapies,” said Nicole Boice, founder of RARE-X, during introductory remarks at the event. “Our hope and intention for the next day is that we create a dynamic interchange or exchange of ideas, innovations, and insights that you can take forward.”

Over the two days, about 150 patient advocates, researchers, and drug developers shared their experiences and discussed various collaborations centered on data sharing. After a series of panel discussions, the event culminated in a pair of small roundtables that allowed participants to meet with experts, potential mentors, and collaborators.

“What we’re trying to do here is enable research readiness for every rare disease so that we can accelerate the discovery and development of meaningful therapeutics,” said Rachel Growth, vice president and head of neuroscience research for BridgeBio.

Across the panels, one common theme was the need to find ways to unsilo data. Julia Vitarello, whose daughter Mila was the first person to receive a customized antisense oligonucleotide (ASO) therapy, participated on a panel about the future of patient-driven research. Vitarello, founder of Mila’s Miracle Foundation and founder of the N=1 Collaborative, is now working on going “from Mila to millions” to scale up the ability to design and produce customized N-of-1 therapies for patients with rare diseases.

“I’d love if every company would dump at least all of their bad ASO designs into some transparent place where everyone could learn from that. Even more, would be better,” she said. “Clinical data seems harder to get your hands on. Its patients holding on to it. Its academics holding on to it. Patients don’t really know what to do. They don’t know how to stand up for themselves and say that’s my daughter or my sons or my own data, and I want that shared. Not only because they are afraid but because they literally don’t know how to do it. I didn’t know how to do it—I still don’t exactly know how to do it—except I raised my hand and said, ‘Hey, all of Mila’s data, all of it, has to be in this database.”

The ability to use the RARE-X data platform may help shift the mindset of reluctant researchers to share data by freeing them of the need to develop the data infrastructure and serve as managers and guardians of the data.

Scott Demarest, a pediatric neurologist at Children’s Hospital Colorado who operates a multidisciplinary clinic for neurogenetic disorders, is working with the patient-driven collaborative the Commission for Neurodevelopmental Copy Number Variants. The clinic has become the center of research efforts for a number of disorders. The collaboration is using RARE-X for its data collection.

“If I spend three years of my life trying to build infrastructure to get data, my sense of ownership over that is different than if RARE-X takes that burden for us,” he said. “I don’t have that responsibility of maintaining that data, only sharing it appropriately and protecting it. That burden has been taken off of me.”

RARE-X plans to continue the Exchange Forum next year. Videos of the panel discussions from this year’s event are available on the RARE-X website.