Mitochondrial Disease Diagnosis and Treatment Research Pilot Study Frequently Asked Questions

What is Mitochondrial Disease? Mitochondrial diseases result from failures of the mitochondria, which are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. Diseases of the mitochondria primarily damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems. Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection. Mitochondrial diseases are either inherited or spontaneous mutations in mtDNA or nDNA which lead to altered functions of the proteins or RNA molecules that normally reside in mitochondria. What is the Mitochondrial Disease Diagnosis and Treatment Research Pilot Study? Currently there are no known treatments for mitochondrial disease. Through the Mitochondrial Disease Diagnosis and Treatment Research Pilot Program we hope to change that. TGens Center for Rare Childhood Disorders will lease a Seahorse Bioscience XFe24 Cell Metabolism Analyzer to study the physiologic traits of cells to advance our efforts to find answers and treatments for children with mitochondrial disease. Instead multiple tests that include painful muscle biopsies and anesthesia, this process will allow us to use a simple blood sample to measure mitochondrial activity and test potential targeted treatments for children. What is the scope of the study? The pilot study will have two focuses. The first focus will be on children that have an identified DNA mutation causing their mitochondrial disease. The second focus of the study will be to quickly diagnose suspected mitochondrial disease patients. The current process for diagnosis of mitochondrial disease requires a family to leave Arizona and have their child go through a painful muscle biopsy. The Seahorse XFe24 will allow TGen to reach diagnosis of mitochondrial disease within 24 hours with a simple blood test. How much will the study cost? The total amount required for the pilot study is $150,000. Of that TGen has worked with Seahorse Bioscience to receive a substantial discount on the equipment and supplies. TGen will use internal resources to cover the approximately $75,000 in scientific, clinical, and physician personnel expenses, genetic counseling and CLIA testing, regulatory compliance, data analysis, data storage, lab, clinic rent, and utilities. How much money do we need to raise? There are approximately $25,000 in costs that must be covered before the pilot can be launched. For more information contact Robyn Nebrich at rnebrich@tgen.org or (602) 343-8638.