View clinical trials related to Malignant Hyperthermia.
Filter by:This study intends to target patients who underwent surgery under general anesthesia during the study period and developed malignant hyperthermia during or after surgery. Therefore, the total sample size was estimated to be about 50 people based on the past incidence of this rare disease. Every year, about 20 patients and their families who developed malignant hyperthermia during or after surgery will participate in this nationwide study (estimated by the current incidence of malignant hyperthermia), and about 1-5 patients will be admitted to Peking University Third Hospital participate in this research. Relevant specimens were collected from malignant hyperthermia (MH) patients and their family members for genetic analysis to determine the mutation of MH-related pathogenic gene loci.
Rationale: Malignant hyperthermia and rhabdomyolysis are phenotypes that have long been considered to occur only in response to external stimuli (trigger anaesthesia and physical exhaustion) show several features of a continuous disease manifestation. Previous studies showed prolonged bleeding time after injury, selective immunological advantages, axial muscle weakness and several social difficulties. A detailed study of the neuromuscular and multisystem features of patients with RYR1-related malignant hyperthermia or rhabdomyolysis is needed to provide clarification about the continuous and multisystem disease manifestations in these patients. Objective: Primary Objective: There are three primary objectives in this study. 1. To investigate the neuromuscular involvement of RYR1 related MH and rhabdomyolysis. 2. To investigate the immunological changes in subjects with RYR1 related MH and rhabdomyolysis. 3. To identify multisystem features of RYR1 related MH and rhabdomyolysis. There are no secondary objectives. Study design: The design of the study will be a clinical, open, observational study. The study consists of three parts; a clinical, imaging and immunological part. Study population: Patients with a history of malignant hyperthermia susceptibility (MHS), and/or a history of rhabdomyolysis related to a variant in RYR1. Intervention (if applicable): Not applicable. Main study parameters/endpoints: The study consists of three parts. Each part has it's own main study parameters 1. Clinical part: the results of the questionnaire study compared to standardizes normal values and the results of the comprehensive clinical assessment. 2. Imaging part: fatty infiltration and hypertrophy of proximal and axial muscles. 3. Immunological part: circulating and leukocyte released anti- and pro-inflammatory cytokine levels compared to healthy age and sex matched controls.
In this study, case information and specimens of patients with malignant hyperthermia(MH) will be collected from all over China, and gene fragment analysis, sanger sequencing method and/or high-throughput whole-genome sequencing will be performed. The MH bioinformatics database will be established to find the pathogenic gene and mutation site of MH in Chinese. Based on the bioinformatics database, the genetic law of MH family will be studied. According to the results of the study, the guideline for the diagnosis and treatment of MH that is in line with Chinese population biology characteristics will be formulated.
Malignant hyperthermia (MH) is a pharmacogenetic disease that manifests itself as a hypermetabolic response of skeletal musculature, in genetically susceptible patients, with the inhalation of volatile halogenated anesthetics, depolarizing neuromuscular relaxants such and, rarely, physical stressors such as intense exercise and heat stroke. HM diagnosis is based on the performance of two tests: - In vitro muscle contraction test (IVCT): it is the gold standard of the diagnosis of HM in Europe. - Pharmacogenetic study: about 50 genetic variants associated with HM have been described. It also has been described that B lymphocytes of patients with MH have metabolic alterations. The main objective is to evaluate the association of disorders that occur with hypermetabolic response of skeletal musculature and susceptibility to malignant hyperthermia (MH).