Xplore RARE-X

Recognizing the Value of Data

Lisa Manaster learned the value of data at Columbia University while earning a master’s degree in special education, an area she became interested in when her daughter, who has a rare neurodevelopmental disorder, started school.

Data drives special education. Special educators use data to monitor the effectiveness of interventions and teaching strategies, which is especially critical when measuring a student’s progress toward IEP goals and objectives.

“You just want your students to keep climbing that ladder, and hopefully, you close the gap between where they are and where they need to be, but it’s all about the data,” she said. “As that is what is used to identify needs and gauge the efficacy of targeted supports.”

It would take until 2018 for Manaster to get a diagnosis for her daughter, who by then had reached her 20s. Genetic testing indicated a mutation on her CACNA1A gene, which plays a critical role in the communication between neurons in the brain. In 2020, Manaster teamed up with another parent of a child with a CACNA1A variant to launch the CACNA1A Foundation. An early priority for Manaster was to gather the data researchers would need to advance the understanding of CACNA1A and begin the development of therapies.

The CACNA1A Foundation began working with researchers at Columbia University on a natural history study. Then, this year, the opportunity came for CACNA1A to become one of the RARE-X data collection pilot programs. At first, there was some hesitation because of fears of creating confusion among the community with the natural history study already underway. However, those fears were put to rest as Manaster saw the potential for RARE-X to help researchers become aware of CACNA1A, find new patients, and also draw connections with related disorders. She sees RARE-X not in competition with their natural history study but as providing an additional opportunity to get their data in front of researchers.

Although there are only a few hundred people known to have a CACNA1A mutation, some believe it could be involved in as much as 1 percent of all epilepsies. There are currently 1,600 identified variants on the CACNA1A gene, so understanding the functional impact of each one is essential.

The newly launched CACNA1A Data Collection Program on RARE-X will help inform researchers how CACNA1A-related disorders change over time, enable better data to design and use in clinical trials, and provide patients with an opportunity to participate in clinical trials. It also has the potential to accelerate the study and development of new treatments for the condition.

Manaster said she believes the RARE-X approach will make it easy for patients and their families to participate because of its approach to engage participants in a series of short surveys and the use of a consent process that is clear, easy to complete, and written in plain language.

“They’ve set it up in such a way where they explain what each question is. It says you can say yes to this or no to this. And if you say yes to it, this is what that means for you,” she said.

She’s also hopeful for the potential for related conditions to shed new light on CACNA1A and point to possible treatments. She sees that as one of the most significant benefits of having the CACNA1A Data Collection Program on RARE-X because many commonalities exist between CACNA1A-related disorders and other rare conditions. For instance, children with CACNA1A who have seizures are already being treated with therapies approved for other rare epilepsies.

“Our goal is to build awareness of our disease, and we hope that by working with RARE-X we’re able to find new treatments and a cure because there are none,” she said. “Right now, it’s just trial and error.”

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