PATIENTS' DATA POWERING PROGRESS

Because Money, Size, and Age Don’t Matter

In January 2021, a group of advocates and parents formed the Coalition to Cure CHD2, a nonprofit focused on raising research funds to find a cure for a rare neurodevelopmental disorder associated with changes in the CHD2 gene. The organization is so new that it is still awaiting its tax-exempt status from the Internal Revenue Service, but it’s not wasting any time on advancing efforts to help find treatments or a cure.

CCC, as the group is known, is one of the early organizations to sign on with RARE-X. The organization is working with RARE-X ​ to create the first CHD2 Data Collection Program of its kind. It is seeking to include every possible person affected by CHD2-related disorders from around the world to participate in the program.

“I was blown away by what these volunteer parents were able to accomplish in such a short time. Never underestimate the drive of a rare disease parent,” said Megan O’Boyle, patient engagement lead for RARE-X. “The fact that CCC is less than a year old but has already begun collecting data is evidence that what RARE-X is offering is needed. RARE-X will remove barriers for volunteer-run advocacy groups who may not have the resources to fund all the research efforts they know are needed.”

CHD2-related disorders, or CHD2 syndrome, is a rare genetic condition and is thought to be the cause of 1 percent of developmental and epileptic encephalopathies. The CHD2 gene provides instructions for making a protein called chromodomain DNA helicase protein 2. This protein is found in cells throughout the body and regulates gene expression through a process known as chromatin remodeling. Having a mutation in this gene can cause drug-resistant epilepsy, including photosensitivity epilepsy, developmental and intellectual delays, and autism.

When the organizers announced the formation of the group at the start of the year, it stated its first task would be to create a patient registry to help understand the full spectrum and clinical features of the condition, identify patients eligible for clinical trials, as well as retrospectively analyze the effectiveness of interventions.

Lauren Malko, co-president of CCC and the mother of a child with the condition, said researchers and scientific advisory board members all told her the first essential step for the organization would be to develop a patient registry. As she spoke to other rare disease organizations, RARE-X kept coming up.

“What stood out to us was the fact that collaboration was top of mind for RARE-X,” said Malko. “We kept seeing data silos with the other organizations, and that is not the way that we’re going to find a cure for CHD2. For us, or for any other organization, sharing the data is super important. We felt that that was one of their number one priorities.”

Though Malko admits she was a little hesitant being one of the first groups to work with RARE-X, she said that when she looked at the organization’s board of directors, the scientific advisory board, and its affiliation with the Broad Institute of MIT and Harvard, her concerns faded. “When you have that kind of collection of people with stellar track records, I thought, ‘How could they not pull this off?’”

The RARE-X platform allows CHD2 families to upload their medical information, ensure the information remains confidential, and enable researchers and other relevant third-party organizations to access de-identified information collected in a secure database.

Christine Salmi, the other co-president of CCC who also has a child with CHD2 syndrome, said she was drawn to the approach of RARE-X. Initially, she said her organization was thinking that it needed to focus its data collection effort on CHD2-specific issues, but RARE-X explained it would take a more generalized approach. It said groups could provide more specific information if researchers were seeking it.

“That’s the best way to do this—throw out a broad net and provide as much information as you can,” Salmi said. “You never know who is going to be interested in what particular data, and if you happen to catch the eye of one individual who might not have been focused on CHD2, but eventually starts looking at things that are associated with our condition and ultimately gets interested in looking specifically at our condition, that’s fantastic.”

For now, Salmi said CCC’s biggest concern will be convincing the CHD2 community that it’s worth the effort to respond to RARE-X surveys and to understand the value of providing this data to the program and what it will mean for them.

“Too many families, and this is true in any rare disease, are burdened and overwhelmed by the day-to-day care of their kids, and some don’t have hope,” she said. “This will instill hope, and it’s realistic. Here’s one critical way to reach that goal. And that’s to get your data into the RARE-X program.”

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