Active clinical trials for "Malignant Hyperthermia"

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).

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.

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 is a potentially fatal inherited disorder triggered by exposure to volatile anesthetic gases, most commonly recognized in children during anesthesia. Carbon filters have been used to scavenge various gases. A new carbon filter (Vapor Clean, Dynasthetics, LLC, Salt Lake City, Utah) with a 510(k) clearance specifically for scavenging anesthetic gases is being marketed, though the filter itself has never been studied in vivo. Bench studies conducted by the manufacturer of the product demonstrate it is extremely effective in reducing the volatile gas output from an anesthesia machine within 2 minutes. This pilot study will measure the effect on volatile gas concentration in non-malignant hyperthermia susceptible patients. Twelve (12) patients will undergo standard anesthetic induction using inhalational anesthetic (Sevoflurane®) and maintained on 3% for 30 minutes to attain steady state concentrations.1 At that time, a total intravenous anesthetic technique will be started and maintained throughout the case. Simultaneously a Vapor Clean filterset will be placed in the breathing circuit (inspiratory and expiratory limbs). Volatile gas concentration will be measured and recorded. This research will determine the feasibility of using this carbon filter to quickly reduce the breathing circuit gas concentration of volatile anesthetic in the clinical setting. This is fundamental in establishing this as a key life saving measure in eliminating the stimulus in a malignant hyperthermia event.

The purpose of this study is to to determine the penetrance of known and probable pathogenic variants in genes and the factors that contribute to penetrance in a population of children and adults in the United States exposed to Malignant Hyperthermia (MH) trigger agents.

In prospective, observational cohort study, changes in body temperature will be investigated before the procedure and during recovery in Radiotherapy patients aged 0-18 years who need sedation due to childhood malignancies. The aims of this study were to measure the incidence and magnitude of changes in body temperature in children undergoing sedation or general anesthesia for Radiotherapy, and to determine their effects on the recovery process.

The Academic centre for Malignant Hyperthermia of Masaryk University (ACMHMU) was established in 2021 in Brno, Czech Republic and consists of four academic departments of Medical Faculty of Masaryk University in two tertiary university hospitals, University Hospital Brno and St. Anne Faculty Hospital. These departments collaborated and operated since 2002 and since 2019 is Brno one of the of centre of EMHG (www.emhg.org). Aim of this study was to describe the Czech and Slovak (CZ-SK) cohort of MHS patients, the biggest Slavonic MHS cohort known by now, and to fill the knowledge gap about the Slavonic population in perspective of MH.

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. To investigate the neuromuscular involvement of RYR1 related MH and rhabdomyolysis. To investigate the immunological changes in subjects with RYR1 related MH and rhabdomyolysis. 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 Clinical part: the results of the questionnaire study compared to standardizes normal values and the results of the comprehensive clinical assessment. Imaging part: fatty infiltration and hypertrophy of proximal and axial muscles. Immunological part: circulating and leukocyte released anti- and pro-inflammatory cytokine levels compared to healthy age and sex matched controls.

The purpose of the study is to develop methods to identify predictors of Malignant Hyperthermia.

Study design: The Spanish registry of RYR1 and CACNA1S polymorphisms (RYCA) is an anonymous descriptive observational multicentre study that aims to identify and catalogue the variants or polymorphisms in the RYR1 and CACNA1S genes in the Spanish population. Secondarily, its correlation with the binding mutations described in both genes at European level by the EMHG will be evaluated to assess the incidence of malignant hyperthermia in Spain. The RYCA registry complies with the highest standards of European and international homologation, both with regard to computer security and the protection of personal data (Data Protection Law 15/1999). Hypothesis: Performing a Spanish registry of RYR1 and CACNA1S polymorphisms will contribute to describe the variants present in our environment and determine their relationship with MH susceptibility. Objectives: Describe the national polymorphisms of the RYR1 and CACNA1S genes To evaluate the incidence of genetic MH susceptibility according to the recommendations of the EMHG. The presence of polymorphisms in a population that has not been studied before may have a difficult correlation with the mutations described in the EMHG webpage. Eligibility Criteria: The sample contained in the registry will originate from the genetic data of patients unrelated to HM who have been sequenced the RYR1 and CACNA1S gene by another pathology. The data related to the genetic analysis will be provided without identifying data of the patient or the clinical history. There will be no possibility of identification of the patient by the team responsible for the RYCA registry, so the request for informed consent is not viable. There will be no selection of participants or patient follow-up. Methodology: A preliminary pilot study will be conducted in an unselected anonymous cohort of the sequenced exome database of the RYR1 and CACNA1S gene at the La Fe Health Research Institute (IISlaFe). The population contained in this database is random and unrelated to HM and the patients are anonymous, so we do not have access to personal data or medical history. If the analysis is feasible, a request for collaboration will be transferred to the Genetics Services / Research Units with experience in the exome sequencing of the RYR1 and CACNA1S genes. Anonymous readings will be requested to carry out the registration and description of the variants existing in the Spanish population and their relationship with the variants described by the EMHG. Variables: The registry will include the chromosomal coordinates, number of total patients included, number of patients whose variant is in heterozygosis, number of patients whose variant is in homozygosis and allelic frequency. Thus, for each of the genes of interest, and making use of their respective chromosomal coordinates, information regarding the variants that these might include will be extracted. Sample size. Sample size calculation is not considered since it is a descriptive record.