Metabolic test in vivo for malignant hyperthermia

Malignant hyperthermia (MH) is a potentially fatal reaction to certain anesthetics, caused by an inherited dysregulation of calcium inside muscle cells. MH can be prevented by using alternative anesthetics in patients who are susceptible to MH and in their relatives. At least half of the families who are susceptible to MH have no identifiable genetic marker. To assess their susceptibility to MH, a surgical muscle biopsy is required to evaluate their muscle response to drugs that may trigger MH by the so-called contracture tests. This test is performed only by a few specialized centers globally. Many persons at risk refuse testing because of its invasiveness, costs, distance to the testing centre, risk of complications, and a painful convalescence. In this project we seek to develop a minimally-invasive screening tool which may translate into a considerable improvement in the identification of patients at risk. Our consortium is a multidisciplinary team with a track record of successful collaboration and the expertise to develop such a device and to test its diagnostic accuracy in a multicenter clinical trial.