When Dorothy Poppe began to learn about Chiari malformation and syringomyelia after her son George was diagnosed in 1991, she was surprised at the lack of high-quality evidence in the medical literature.
Chiari malformation is a rare disease in which the brain tissue extends into the spinal canal. Increased and improved imaging technology has uncovered a higher number of diagnoses in the past several years, though, making it less rare than it was once believed.
Lack of Chiari malformation research motivates advocate’s beginnings
Unfortunately, the dearth of research for Chiari malformation and syringomyelia is only marginally better today. A recent literature search identified over 5,000 publications on the topics—none of which included Level I evidence. “Chiari malformation was identified in the late 1800s and the very first randomized control trial in its study was completed just last year,” Poppe said.
Poppe, the executive director of the Bobby Jones Chiari & Syringomyelia Foundation (Bobby Jones CSF), is dedicated to raising awareness and finding treatments for Chiari malformation, syringomyelia, and related disorders.
Creating collaborative, community-led research
Working with prominent researchers and physicians at the time, Poppe aimed to collect information about the type and severity of symptoms patients with Chiari malformation and syringomyelia were experiencing. They sent out a mailed survey to all the patients in their database.
“The nonprofit organization I was working with at the time had a mailing list of about 1,000 patients,” she said. “We received an unprecedented 397 responses.”
That was the first major sign that a collaborative, community-led research project was needed for this rare disease community. “Ever since then, we knew it was possible to focus research in a patient-centric way, and it’s become a driving ambition in our work,” Poppe said. “We knew a community-led research initiative would work, but it was just a matter of finding a way to make it happen.
The organization entered the Genetic Alliance’s PEER system (People for Engaging Everyone Responsibly) through a Robert Wood Johnson grant. Poppe said that the Genetic Alliance has been a true partner, walking them through the Institutional Review Board (IRB) processes, survey building, and long-term planning.
The organization’s medical advisory board has also been helpful in combating the feeling of ‘imposter syndrome,’ keeping them on track and validating certain decisions.
Luna provides platform to advance research in Chiari malformation
By partnering with Luna, the organization feels secure that their members’ data is safe and being used responsibly for their research, a promise that Luna co-founder Dawn Barry extended to Poppe.
“I remember meeting Dawn Barry at Genetic Alliance’s 30-year anniversary conference, and knowing from that moment that the partnership would be mutually beneficial and forward-thinking.”
“Luna harmonizes genomic data, medical data, and very importantly, the lived experience, especially for communities like Bobby Jones CSF,” said Barry. “Good science includes representative information for people-centered discovery. That’s why we created Luna.”
The Bobby Jones CSF registry community is focused on developing hypothesis-generating studies in Chiari, syringomyelia and related disorders, specifically in areas that matter most to patients, Poppe said. “Our goal is to develop research that sparks future study that yields high-quality Level I evidence. Ideally, the registry will also actively participate in and contribute to those future studies in a meaningful way.”
Part of their research includes questions important to patients with Chiari malformation, but highly controversial in the neurosurgical world.
One of those studies focuses on the so-called “5-mm rule” in Chiari malformation treatment. The 5-mm rule has come into question because it does not accurately predict symptom severity or treatment success. Current practice determines a patient to have a Chiari malformation if their cerebellar tonsils are located at 5 mm or greater below the foramen magnum, or the opening at the top of the spinal canal. Researchers hope this study can help them determine whether or not this rule has impacted the likelihood of accessing neurosurgical Chiari care over the years.
Poppe offers advice to other communities interested in conducting advocacy-led research.
- Build a solid base of support from patients, caregivers, clinicians, and researchers with whom you’re going to work before beginning. They will be a large portion of your support base. Your other base of support will grow from your work in the PEER system.
- Genetic Alliance and Luna will be there when things get technically difficult, but your fellow communities are there to support you in a meaningful way when you need that extra boost.
“We’re still trying to find our ‘place’ among Chiari, syringomyelia and related disorder research. For now, we’re focusing on the areas in which we can make the most impact: giving special reverence to topics that greatly affect patients and caregivers on the day-to-day.”
Luna’s suite of tools and services connects communities with researchers to accelerate health discoveries. With participation from more than 180 countries and communities advancing causes including disease-specific, public health, environmental, and emerging interests, Luna empowers these collectives to gather a wide range of data—health records, lived experience, disease history, genomics, and more—for research.
Luna gives academia and industry everything they need from engagement with study participants to data analysis across multiple modalities using a common data model. The platform is compliant with clinical regulatory requirements and international consumer data privacy laws.
By providing privacy-protected individuals a way to continually engage, Luna transforms the traditional patient-disconnected database into a dynamic, longitudinal discovery environment where researchers, industry, and community leaders can leverage a range of tools to surface insights and trends, study disease natural history and biomarkers, and enroll in clinical studies and trials.