Principle Investigator: Dr John Counsell, Associate Professor, University College London Researchers at UCL are working on two promising gene therapy treatments for MSUD. The first method uses an optimised gene delivery technology to treat the liver, with the aim of permanently restoring functional metabolism in liver cells for the rest of the patient’s life. The […]

Princ. Investigator: Lital Alfonta of Ben Gurion University of the Negev, Israel Orna Staretz-Chacham, Metabolic Physician The goal of this project is to develop an electrochemical biosensor that can be used for non-invasive BCAA monitoring to provide quick and accessible results for timely treatment decisions. This biosensor will utilize amino acid-specific enzymes to ensure specificity […]

Princip. Investigator: Kevin A. Strauss; Medical Director, Clinic For Special Children Senior Investigator: Gaungping Gao, University of Massachusetts School of Medicine’s Horae Gene Therapy and Li Wiebo Institute for Rare Diseases Research and the Clinic for Special Children     The goal of this project is to test an adeno-associated viral vector (AAV) gene therapy […]

Dr. Rebecca Ahrens-Nicklas Children’s Hospital of Philadelphia       The team has developed a mouse model of MSUD to examine psychiatric and learning differences commonly observed in those with MSUD. They have observed significant metabolic differences in the brain of a mouse model of MSUD where the biochemical defect is limited to the brain. […]

Neurocognitive Outcomes and Quality of Life in Adults with MSUD Dr. Jessica Gold Children’s Hospital of Philadelphia Successful transition to independent adulthood requires intact executive and adaptive function. These neurocognitive domains are frequently impaired in inherited metabolic disorders (IMD), despite optimal management. For many IMDs, the impact of executive and adaptive dysfunction on long-term out […]

Using a Yeast Model of MSUD to Understand Pathology Dr. Ehud Gazit Tel Aviv University   MSUD affects metabolism in many ways. Improved understanding of the mechanisms by which MSUD affects physical and mental health is an essential step in developing improved treatments. To this end, Dr. Ehud Gazit has developed a model of MSUD […]

Muscle Directed Gene Therapy Application for Maple Syrup Urine Disease (MSUD) Dr. Jenny Greig Perelman School of Medicine at the University of Pennsylvania   This project sought to develop a muscle directed gene therapy application for MSUD using a mouse model for MSUD.  In humans, skeletal muscle is responsible for approximately 60% of the oxidative […]

Young Adults with MSUD and Their Transition to Adulthood: Psychosocial Issues Dr. Wendy Packman and Dr. Indira Mehta California   Dr. Wendy Packman and Dr. Indira Mehta from California examined psychosocial issues affecting those with MSUD. The organization assisted financially with the project and the results were published in the Journal of Genetic Counseling.

NBS Connect Dr. Rani Singh Associate Professor and Director, Division of Medical Genetics, Nutrition Section, Emory School of Medicine   This project led to the development of NBS Connect, an internet-based registry and support network for parents and individuals with inborn errors of metabolism. The site was managed by staff from Emory University Department of […]

Mouse Model Dr. Susan Hutson Wake Forest University   Dr. Hutson and colleagues developed a mouse model of Classic MSUD with the aim of understanding the molecular basis for the effects of MSUD on the central nervous system and body metabolism. They previously generated a mouse containing a knockout (KO) of the mitochondrial branched chain […]