Metabolic test in vivo for malignant hyperthermia

Call

EJP RD JTC 2022

Investigador principal

Oscar Diaz Cambronero

Role

Participant

Year

2023

Malignant hyperthermia (MH) is a dangerous reaction to certain anesthetics, heat or exercise that can be fatal if left untreated, caused by an inherited dysregulation of calcium inside muscle cells. MH can be prevented by using alternative anesthetics in patients with suspected MH predisposition and in their relatives. At least half of the families affected by MH predisposition have no identifiable genetic marker and cannot benefit from genetic testing. To assess their risk of MH, a surgical muscle biopsy is required to evaluate their muscle response to drugs that may trigger MH by the so-called contracture tests, performed only by a few specialized centers globally. Many persons at risk refuse testing because of its invasiveness, cost, distance to the testing centre,risk of complications, and a painful convalescence.

We envisage developing a test to diagnose MH using a harmless acupuncture needle applied into muscle. Needles for this ¨chemical biopsy¨ are coated with a sorbent designed to extract specific molecules (i.e., biomarkers) by a process called solid phase microextraction. A microinjection of caffeine into the muscle would trigger a local reaction only in patients predisposed to MH but not in others, producing biomarkers that can be extracted by the modified needle and analyzed for diagnosis. Our consortium is a multidisciplinary team with the expertise to develop such a device and to test its diagnostic accuracy in a multicenter clinical trial. Developing an innocuous tool to diagnose MH predisposition would be a major breakthrough for the better of patients at risk of MH.