Baptist Health of Northeast Florida has recruited the first patients for its research study funded by the State of Florida to assess the hereditary probability of brain aneurysms. Theresa Coppa of Jacksonville, Florida and her three children are the first people to sign up to participate in the study which aims to recruit patients and first-degree family members.
The Familial Brain Aneurysm Study is intended to help researchers determine to what extent a family's history of brain aneurysms can play in determining the likelihood of their occurrence in later generations as well as genetic markers of it. The findings may be used to advance the use of screening during routine medical exams, and finding alternatives for screening options in patients who may be at risk.
"Today, we know that if you have two first-degree relatives (mother, father, siblings) with a brain aneurysm, your risk of having an aneurysm increases from four to eight percent," said Ricardo Hanel, MD, PhD, neurosurgeon and co-medical director of Baptist Stroke & Cerebrovascular Center, and the principal investigator of the study. "With this study, we aim to understand better the epidemiology of familial aneurysms in Florida and, at the same time, understand the genetic markers for intracranial aneurysms that may provide new targets for future screening processes and therapies and potentially help us save lives."
According to the Brain Aneurysm Foundation, an estimated 6.5 million people in the United States have an unruptured brain aneurysm---or 1 in 50 people. A brain aneurysm is a weak spot on a blood vessel in the brain that bulges and fills with blood, like a bubble. Unruptured brain aneurysms often have no symptoms. Finding the aneurysm, and when appropriate, treating it before it bursts, is a good stroke prevention measure.
Coppa was diagnosed with an unruptured aneurysm about a year ago and underwent successful treatment. She is participating in the study to help protect her kids. "I want to find out if there is a genetic component to this. We have breast cancer and diabetes in the family and can watch for those. If we find out there's a genetic trait to aneurysms, they'll know to watch out for it," she said.
Coppa's son, Zachary, said, "It's just that peace of mind to know if you have it or not, and if there is a genetic link, there are things you can do."
Her other son, Connor, added, "I'm grateful to have a chance to possibly help others in the future. I hope the study provides a better understanding of aneurysms as a whole, how they may affect a bloodline, and whether genetics plays a part or if it truly is random."
A patient who has been diagnosed with an intracranial aneurysm and at least one first-degree family member (mother, father, sibling, children) must agree to participate in the study to be enrolled (e.g., it cannot be only the patient or only the family member). There is no limit to the number of first-degree relatives who can be enrolled and screened. It's an easy process: every participant will fill out a survey and give a blood sample. Family members also will undergo vessel imaging (MRA)---the patient will have already undergone this process during their initial diagnosis. There is no cost to the participants.
Baptist Health first announced the study in September 2021 upon receiving a $250,000 grant from the State of Florida.
Olivia and Phil Hoblit, founders of the Trinity Love Hoblit Foundation for brain aneurysm awareness, helped significantly in advocating for the study's funding. The foundation annually donates funding for neurological research, training and treatment for brain aneurysms, strokes and other cerebrovascular conditions to the Sty Neuroscience Institute at Wolfson Children's Hospital and Baptist Neurological Institute.
Working closely with the Trinity Love Hoblit Foundation, Senator Aaron Bean, Representative Wyman Duggan and Representative Clay Yarborough supported and secured the original state funding of the study, and led the effort in securing additional funding during the 2022 Legislative Session. The current state appropriations are awaiting Florida Governor Ron DeSantis' signature.
"We are thankful to Governor DeSantis and the entire Northeast Florida Legislative Delegation for recognizing the importance of this research, which will improve our ability to help patients before aneurysms impact their lives," said Dane Bennett, director of Government Relations, Baptist Health.
Further study funding will come from a new partnership between the Trinity Love Hoblit Foundation and Amelia Island's Luna Fine Art Gallery. The gallery, located in the Courtyard & Springhill Suites by Marriott Amelia Island, is part of The Hive, the social responsibility program started by Kim and Julian MacQueen, owners and founders of Innisfree Hotels. The gallery will feature local artists and host exhibits with all gallery commissions being donated to the Trinity Love Hoblit Foundation.
If you or a first degree family member (mother, father, sibling) been diagnosed with a brain aneurysm, you may be a good candidate for this study. Contact (904) 388-6518, Ext: 58762 for more information.