RARE-X Launching Xcelerate RARE: An Open Science Data Challenge to Address Rare Neurodevelopment Diseases

This spring, RARE-X will bring together researchers and data scientists to use patient-provided data to address questions focused on rare pediatric neurodevelopmental diseases in the inaugural Xcelerate RARE: An Open Science Data Challenge.

The Open Science Data Challenge is intended to generate new insights into these conditions and allow participants to test hypotheses to fuel therapeutic development by leveraging the growing amount of patient data on the RARE-X platform and federated external data sets. The event will be built around three challenge questions intended to attract different researchers and data scientists. RARE-X is working with Dream Challenge through the nonprofit Sage Bionetworks to craft the challenge questions and create a dedicated workspace.

The challenge questions will include one aimed at identifying previously unrecognized symptoms, another focused on creating machine learning algorithms to predict disease diagnoses based on the diagnostic journey that is documented by these families providing data, and a third one aimed at using data to further a therapeutic hypothesis. The RTW Charitable Foundation, one of the Xcelerate RARE sponsors, has set aside grant funding for up to three submissions that provide a compelling therapeutic hypothesis and a clear proposal for testing that hypothesis.

“The Open Science Data Challenge is like a long-form hackathon,” said Karmen Trzupek, Senior Director of Scientific Programs for Rare-X. “With the Open Science Data Challenge, we’re bringing together people who wouldn’t normally see, use, and work on this data into the rare disease space to encourage deep thought, collaboration, and communication with teams to vet research ideas and develop them, not over a weekend, but over two months.”

More than 25 rare disease communities represented by approximately 40 patient advocacy groups are participating in the challenge. Patients and their families affected by these conditions are actively loading their health data to the RARE-X data platform to enable researchers to make discoveries.

There are many ways for people to get involved in Xcelerate RARE. Families battling rare pediatric neurodevelopmental diseases can complete surveys on the RARE-X platform, including patient-reported symptoms and validated patient-reported outcome measures (PROMs). Participants with genetic test reports should upload them to the RARE-X platform for expert curation by the RARE-X team.

Academic researchers, data scientist, and their research teams are encouraged to join the open science challenge to work on significant problems facing rare disease families and compete for grant prizes. It’s also an opportunity for researchers working for biopharmaceutical companies to get access to rare disease patient data in a pre-competitive, open environment. This data can help their team better understand the underlying biological mechanisms of neurodevelopmental diseases to develop insights into potential therapeutic approaches and advance their research pipeline.

RARE-X is seeking judges with clinical expertise in neurodevelopmental diseases, rare disease research, and machine learning models of predictive diagnosis. The organization also welcomes sponsors who can provide prizes or external data for harmonization efforts. In addition to RTW Charitable Foundation, RARE-X will also be partnering with Roche, the Alliance for Artificial Intelligence in Healthcare, NetraMark, and Ciitizen, plus receiving expert advice from the U.S. Food and Drug Administration to deliver Xcelerate RARE.

“Ultimately, our goal is to advance rare disease understanding and meaningful therapeutic research for rare diseases. That’s what we’re hoping for,” said RARE-X’s Trzupek. “We have reasonable expectations. We don’t expect the patient-reported data we’ve collected in just over a year to generate a blockbuster therapeutic idea overnight, but we do believe that patient-reported data is powerful and can be used to fuel and test therapeutic hypotheses.”

Listen to the Podcast about Xcelerate RARE