A Fledgling Rare Disease Nonprofit Finds Hope in a RARE-X Pilot Program

About six months after Christina Hartman’s daughter Charlotte was born, the infant began missing developmental milestones. Hartman and her husband were in denial at first but soon had testing performed by Montgomery County in Maryland where they lived, and in June 2017, the county revealed that Charlotte had a global developmental delay.

Hartman wanted to know why her daughter had the problem, but the county representatives told her it didn’t matter. She could now get the physical therapy, occupational therapy, and other services she needed. Hartman, who had worked in public health, began calling around for doctors and researchers to get an answer. She wanted to know if the underlying condition might lead to a progressive, degenerative disorder.

Her persistence eventually led to whole exome testing of her daughter, husband, and herself. In December 2018, that led to a diagnosis of Naa10-related syndrome. The condition, first described in 2011 by University of Utah scientist Gholson Lyon, causes psychomotor developmental delay, autism spectrum disorder, cardiac disease, dysmorphic features, post-natal growth failure, and low muscle tone.

At the time Charlotte received her diagnosis, there was no patient group, but there was a woman in the United Kingdom who had set up a private Facebook page for the handful of patients and families identified with Naa10 syndrome. The page served as a registry with each child’s name, age, location, and specific mutation to the Naa10 gene. In July 2019, Hartman and other parents of kids with Naa10 formed the Naa10 Foundation in the hopes of driving research.  It is now among the first set of patient groups participating in a pilot of the RARE-X data collection platform.

“Our hope is with RARE-X that we can become a real registry and have this data accessible for Gholson to do his research and for him to be able to access it whether or not he moves to other institutions,” said Hartman, co-founder. “But most critically, the patients want to have access to this. We want to be able to share it with additional researchers who hopefully are out there. We feel lucky to have even a single researcher, but we hope to generate even more interest in this disease area.”

Hartman said the organization had been trying to begin a registry but had been stymied in its efforts because of the cost. Even a nonprofit organization it had considered working with to create a registry wanted $10,000 upfront to initiate the effort. As a fledgling nonprofit, the organization didn’t have the financial resources to commit, and the researcher Lyon didn’t feel he could afford to divert scarce research funds.

When Hartman learned about RARE-X and its effort to create a federated data platform, free to rare disease patient groups, where patients own the data and decide if, and when they want to share it, she said it was “a dream come true.” “This is exactly the void we’ve been trying to fill in our disease community.”

One of Hartman’s hopes will come from the data collection platform is a better understanding of the manifestations and progressions of Naa10-related syndrome. Right now, parents will post random physical and behavioral activity to the Facebook page to find out if others with the condition experience the same thing. For instance, one woman posted about her daughter’s tendency to twirl her hair. The problem is that it is often hard to tease out what is related to the genetic condition from what might be unrelated, but it is helping to understand the range of manifestations and how potentially severe the condition can be.

For now, the Naa10 Foundation is in the early stages of working with RARE-X. It has begun filling out initial questionnaires and providing contact information for Naa10 families, but it is careful in working with its patient community, which can be distrustful of physicians and researchers, concerned about privacy, and want to make sure that any advances made from their data translate into benefits for patients.

“I’ve had a lot of conversations with Gholson, and I know he’s very committed to sharing information and making advances, but I know that you can’t predict what will happen as time goes on, which is why we want RARE-X, to make sure that sharing is going to happen no matter what,” said Hartman. “It’s going to be patient-owned, it’s going to be interoperable, and any researcher can make a request for this data from the patients in that community. The way that they are structuring this is so critical, and it’s much needed.”

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