INFORM ADVANCES RESEARCH AND TREATMENT OF FATTY ACID OXIDATION DISORDERS (FAODs)
Fatty acid oxidation disorders (FAODs) can threaten the lives of infants, children and adults. These inherited metabolic conditions prevent the body from generating cellular energy from fats during times of stress, illness or fasting, and can result in mild symptoms, chronic medical problems or sudden death.
Founded in 2013, the International Network for Fatty Acid Oxidation Research and Management (INFORM) is the only global scientific organization that focuses on FAODs and related enzymatic disorders involving the carnitine transport cycle. These include ACAD9 Deficiency, CACT Deficiency, CPT1a Deficiency, CPT2 Deficiency, CUD Deficiency, GA2/MADD Deficiency, MCAD Deficiency, MCHAD/SCHAD Deficiency, MCKAT Deficiency, MTP/LCHAD Deficiency, SCAD Deficiency and VLCAD Deficiency.
“We provide a forum for researchers, clinicians and families to discuss the causes, diagnosis and management of these serious genetic conditions,” said Jerry Vockley, M.D., Scientific Director of INFORM and Professor of Human Genetics and the Cleveland Family Endowed Chair in Pediatric Research at the University of Pittsburgh. He is also Chief of Medical Genetics and Director of the Center for Rare Disease Therapy at UPMC Children’s Hospital of Pittsburgh.
Approximately 70,000 people are affected by fatty acid oxidation disorders worldwide. About one in 10,000 individuals are impacted in the U.S., where approximately 400 babies each year are identified through newborn screening with FAODs, according to Dr. Vockley.
“With the introduction of expanded newborn screening, many of these conditions can be diagnosed and treated at birth, leading to better outcomes. While new types of nutritional and pharmacological therapies are being tested, treatment is only partially effective for some conditions. More research is needed as we still do not understand how these genetic disorders lead to heart, liver or kidney failure, and other life-threatening conditions.” said Dr. Vockley.
In the past five years, INFORM has built a worldwide community of physicians, nurses, nutritionists, researchers and patient families seeking information on FAODs, said Vockley. “We offer professional learning opportunities throughout the year, and our new website – informnetwork.org – provides a central informational resource for families, physicians and researchers,” he added.
The non-profit organization’s key initiatives include:
• Online Information and Networking – INFORM offers a comprehensive resource for families affected by FAODs, including the latest developments in genetic research and clinical trials, as well as important information on screening, diagnosis and treatment.
• INFORM Virtual Tissue Bank – This initiative grew out of the desire to share research sample information and testing results to help advance the diagnosis and treatment of disorders of fatty acid oxidation and the carnitine cycle to increase knowledge and help patients worldwide.
• INFORM Network’s Annual Symposium – “At INFORM’s first symposium in Innsbruck, Austria, there were only a handful of countries represented and three sponsoring organizations. On our sixth anniversary in 2019, we drew more than 135 participants from 24 countries represented with 16 sponsoring organizations,” said Keith McIntire, INFORM Coordinator.
INFORM’s 2020 Symposium will be held August 30-31, 2020 in Freiburg, Germany. Researchers and clinicians will discuss the proper diagnostic interpretation of laboratory testing, development of new therapeutic strategies and the role of newborn screening in preventing complications. It will also serve as the annual meeting of INFORM. The International Network for Fatty Acid Oxidation Research and Management (INFORM) promotes research, education and discussion into the cause, diagnosis, and management of disorders of fatty acid oxidation and the carnitine cycle. For more information, visit informnetwork.org.