(Pittsburgh, PA) In an effort to move fast toward treatments and potential therapies, five of the world’s leading mitochondrial disease patient advocacy groups have joined together to form and fund an international Leigh Syndrome Research Network. Two U.S. based organizations, the United Mitochondrial Disease Foundation (UMDF) and People Against Leigh Syndrome (PALS), along with Australian based Mito Foundation, The Lily Foundation of the U.K., and Mitocon of Italy, have pledged $1 million USD to support this innovative, multi-year project to fund research with a focus on improving diagnosis, therapeutic development and optimized patient care for Leigh’s patients.
Leigh Syndrome, first described by Dr. Archibald Denis Leigh in 1951, is an inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years. Leigh’s can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Symptoms of Leigh’s usually progress rapidly. The earliest signs may be poor sucking ability and the loss of head control and motor skills. These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function. The prognosis for those with the disease is poor.
“By working together on this Leigh’s-focused project, we are fast-tracking potential treatments and cures for patients who have significant unmet medical needs,” said Philip Yeske, PhD, UMDF Science and Alliance Officer. “Even more importantly, what we learn from this global research network will serve as a model for the creation of additional networks for other specific mitochondrial diseases.”
An international scientific steering committee for the Leigh Syndrome Research Network is led by Bruce M. Cohen, MD, FAAN, Pediatric Neurologist and Director of the NeuroDevelopmental Science Center at Akron Children’s Hospital. “Initially, the network will focus on natural history data collection, outcome measure development and validation as well as pre-clinical data coordination,” Dr. Yeske explained. “Later this year, the steering committee plans to develop a “Request for Proposals” to support Leigh syndrome-focused grants,” Dr. Yeske said.
“No single organization can take on a project of this scale alone. This collaboration between mitochondrial disease patient advocacy partners will help us leverage our existing connections to the patient community as well as elite international researchers, many of whom already engage with one or more patient groups but not as a cohesive international network,” said Brian T. Harman, President & CEO of UMDF. “The success of this network drives future collaborative efforts that we hope will bring effective treatments and potential cures for the patient families we serve.”
For more information about the Leigh Syndrome Research Network, visit leighsyndrome.org.
ABOUT MITOCHONDRIAL DISEASE
Mitochondrial disease results from the failure of the mitochondria, which are located in the cells of our bodies. Mitochondria are responsible for creating more than 90% of the energy needed to sustain life and support growth. When mitochondria fail, less energy is produced causing cell injury or cell death. On a larger scale, organ systems begin to fail. The disease is often debilitating. In some cases, it may result in death. There are no approved therapies for mitochondrial disease in the United States.
ABOUT THE FOUNDING ADVOCACY GROUPS
The United Mitochondrial Disease Foundation (UMDF) promotes research and education for the diagnosis, treatment and cure of mitochondrial diseases and to provide support for affected individuals and families. Since its inception, the UMDF has funded more than $12 million in research, making it the leading non-governmental contributor of grants focused solely on mitochondrial disease. People Against Leigh Syndrome (PALS) was formed in 2013 after William Martin, son of Neil and Lori Martin, was diagnosed with Leigh syndrome. PALS has built awareness of this unknown disease and raised funds to support the medical community in their quest to develop viable treatments and ultimately a cure. Mito Foundation supports people affected by mitochondrial disease, funds essential research into the prevention, diagnosis, treatment, and cures of mitochondrial disorders, and increases awareness and education.
The Lily Foundation is committed to finding a cure for mitochondrial disease through funding research, raising awareness and family support. Mitocon was formed in 2007 by a group of parents of children suffering from mitochondrial disease. Over the years, Mitocon has expanded and has become the leading association in Italy for all mitochondrial patients, adults and children, and for their families and the entire scientific community.