When Ron Garber’s daughter Yaya was diagnosed with 4H Leukodystrophy, he sought out some large, rare disease data collection organizations. Unfortunately, as he used their website pull-down menus he discovered his daughter’s condition didn’t exist in their data sets.
Garber founded the Yaya Foundation for 4H Leukodystrophy three years ago and early on recognized the importance data would play in advancing research into the condition. However, while the organization made early efforts to build a contact registry, it remained elementary. The organization had bigger ambitions and continued to spend a lot of time thinking about how it could achieve more sophisticated data collection.
“We heard lots and lots about serious challenges that other patient organizations faced with their own data collection efforts, including spending many years and lots of resources and money trying to figure out the right data collection platform, trying to stand up an IRB [institutional review board], trying to figure out the right questions to ask,” said Garber, whose daughter Yaya died from the condition when she was just 13 months old. “We heard some horror stories about huge investments in data collection that then led to data that wasn’t shareable, or the burden of standing up a real patient registry being so great that the organization wasn’t able to focus on other things.”
The Yaya Foundation has become one of the first rare disease advocacy organizations to initiate data collection programs on the RARE-X platform. Garber said RARE-X solved many of the foundation’s problems with existing data collection efforts because the patient retains control over their own data and can decide how their data is used.
“The RARE-X offering fundamentally changed the burden for us. We don’t have to stand up an IRB. We have a platform that not only already exists, but it’s the best-in-class Broad Institute platform,” Garber said. “It enables our data to get out into the world. It’s a federated model. It’s on this platform that many researchers, clinicians, therapy developers—the types of people who can help our patients—can access. It gets our data to them. It really just changed the equation for us.”
Walt Kowtoniuk, a venture partner at Third Rock Ventures who serves on the board of RARE-X and the scientific advisory board of the Yaya Foundation, knew that data collection was a priority for the foundation and introduced its leadership to RARE-X.
There are a number of leading researchers collecting data on 4H, and RARE-X would allow those researchers to share data with RARE-X and vice versa, which would increase the usefulness of the data they are collecting. As a result, the foundation said researchers may see a more complete picture of the patient population.
“These researchers are around the globe. We’ve got one in Montreal, one in Philadelphia, and one in Amsterdam,” said Christina Butterworth, executive director of the Yaya Foundation for 4H Leukodystrophy. “If one clinician is capturing a certain set of data that looks just a little different from another researcher’s set of data, it can be difficult to try to get a look at the entire effect and impact of the disease, unless you have a global set of data that is brought together in one place.”
There is no cost and no clinic visits necessary for patients and caregivers participating in the 4H Leukodystrophy Data Collection Program on RARE-X. Patients and caregivers retain control over who has access to a patient’s health information. Physicians, researchers, and drug development companies can access de-identified data to aid research with their consent.
Once a patient or caregivers sets up an account, they will be asked to answer a set of survey questions regarding the patient’s health history and treatment. Over time additional surveys will be added, and they will be notified of future surveys relevant to them.
Butterworth believes that not only will 4H Leukodystrophy patients benefit from having an accessible and centralized collection of data but that researchers will be able to leverage that by learning from similar RARE-X data collections of related conditions.
“The ultimate hope is that there are commonalities and patterns in the aggregate datasets that go beyond the 4H community. It’s important to us that we, as a rare community, don’t sit in silos,” said Butterworth. “What’s really compelling about RARE-X is that we get to combine, standardize, and make 4H data accessible on a platform for rare disease data sharing in the hopes of advancing, and even accelerating, discovery, diagnosis, and treatments for the 4H community and beyond.”