Single ventricle heart disease is a rare congenital heart defect caused when one of the heart's lower chambers doesn't fully develop. According to the U.S. Centers for Disease Control and Prevention, about 1 in 15,000 babies born in the U.S. have single ventricle heart disease. While it can often be diagnosed before birth, there is no cure and treatment requires extensive intervention, including multiple surgeries beginning right after birth. To add to the body of scientific knowledge about this complex syndrome, a new $13 million innovative research initiative focused on single ventricle disease is being launched by the American Heart Association, celebrating 100 years of lifesaving service in 2024 as the world's leading nonprofit organization focused on heart and brain health for all, and the Additional Ventures, a purpose-driven nonprofit that aims to accelerate research progress and improve clinical care for people with single ventricle heart disease.
The American Heart Association/Additional Ventures Collaborative Sciences Awards in Single Ventricle Heart Disease will bring together teams of scientists from Nationwide Children's Hospital in Columbus, Ohio; The Ohio State University in Columbus; Stanford University in Stanford, California; and the University of Colorado in Aurora, to work collaboratively on research projects to expand the understanding of underlying biological mechanisms and science related to clinical complications and concurring medical conditions in people with single ventricle heart disease. The projects are funded for their forward-thinking approaches to research using innovative and progressive methods to challenge current knowledge and theories in search of cures for single ventricle disease.
"Single ventricle disease is one of the most complex forms of congenital heart defects and is often diagnosed prenatally or very soon after birth. Children with single ventricle heart disease face a range of complications and comorbidities throughout their lifetime, significantly reducing both quality and duration of life," said Keith Churchwell, M.D., FAHA, volunteer president of the Association. "We are excited to see what cutting-edge research these scientists may uncover to help us learn more about the biomechanisms of the disease with the hope to reduce the many complications and associated conditions that often accompany it."
"We are proud of this collaborative effort to build momentum and enthusiasm within the research community to address these gaps in knowledge and identify clinical targets that could make a meaningful difference in patients' lives," said Erin Hoffmann, executive chairman and founder of Additional Ventures. "It is incredibly heartening to see the response this program has garnered within the single ventricle research and clinical communities. We are thrilled to see so many minds dedicated to this important problem. This program has inspired new projects and the creative, collaborative thinking that's required to tackle the unknowns in this space."
The five research projects, which began July 1, 2024, and will continue through three years, include:
- Elucidation of the Mechanisms Underlying the Development and Progression of Fontan Associated Liver Disease (FALD) – Led by Christopher Breuer, M.D., director of the Center for Regenerative Medicine at Nationwide Children's Hospital, this team will study a complication of single ventricle disease called Fontan associated liver disease (FALD). There is no known cause for FALD, and the only treatment for it is liver transplantation which also causes additional serious health issues. The team will study the basic mechanisms of FALD using animal models to determine how blood flow impacts the development and progression of the condition.
- PULSE-SVA Network: Personalized Understanding from Linked Simulations & Electrophysiology in Single Ventricle Arrhythmia – Led by Isabelle Deschênes, Ph.D., professor and chair of physiology and cell biology at The Ohio State University College of Medicine, this team's research will focus on arrhythmias in people living with single ventricle disease. They hope to better understand the electrical properties of the hearts of these patients and explore the potential of cardiac radiotherapy. This is a new treatment for improving heart failure and heart rhythm defects in single ventricle patients.
- Correcting Latent Mechanisms that Underlie Neurodevelopmental Disorders Associated with Congenital Heart Disease – Led by Casey Gifford, Ph.D., assistant professor of pediatrics cardiology and genetics at the Stanford University School of Medicine, this team will identify genetic factors that may cause or protect against neurodevelopmental disorders in people with single ventricle disease. They plan to study how endothelial cells that line blood vessels interact with other cells in the brain and heart during a baby's development to help those organs develop properly, testing whether heart and brain endothelial cells are affected by changes in DNA. The team will use this information to improve genetic counseling and identify avenues for therapeutic intervention.
- The DEFEND Trial: Dapagliflozin or Empagliflozin for Fontan Exercise, QOL and MitochoNDrial function – Led by Shelley Miyamoto, M.D., FAHA, a professor of pediatrics (cardiology) at the University of Colorado School of Medicine, this team will study the use of two sodium-glucose co-transporter 2 (SGLT2) inhibitors used to treat diabetes and heart failure in adults to determine if they may also help teenagers and young adults with single ventricle disease. They hope to determine if the medications improve quality of life and the ability to exercise. People with single ventricle disease are often left out of studies of new medicines, so the DEFEND study will help address this disparity.
- Consequences of Impaired T Cell Homeostasis in Single Ventricle Congenital Heart Disease – Led by Stephanie Nakano, M.D., a pediatric cardiologist at Children's Hospital Colorado, this team plans to learn more about the immune system of people with single ventricle disease. They theorize that children with single ventricle disease are born with abnormal immune cells, so they plan to study immune cells in patients and in animal models to learn if cell abnormalities contribute to heart failure in single ventricle patients. They hope to determine if it is possible to predict which single ventricle patients are at risk for complications and which medications may be most helpful to improve patient outcomes.
This multidisciplinary network of five collaborating teams will each address high-priority single ventricle-related research questions – creating a team of teams that shares related, yet unique, scientific goals to move the needle in this underserved field.
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