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.
The purpose of the study is to determine how genetic mutations and variants in combination with non-genetic factors influence risk for MH in children who had general anesthesia with triggering agents and develop reliable predictive MH risk algorithms. Rationale: Once the factors responsible for MH risk are determined, it will be possible to better predict risk and develop better individualization of anesthetics such as tailored selection of intravenous anesthetics, regional anesthesia and avoidance of all triggering agents. The long-term goal is to tailor and improve safety of anesthetic and clinical care and to reduce mortality, morbidity and cost of care due to MH with right anesthetics and muscle relaxants for endotracheal intubations for an individual child.
Study Type
OBSERVATIONAL
Enrollment
64
DNA sequencing of protein coding sections of all genes
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States
Genetic comparison of MH phenotype subjects to that of the CHCT negative control subjects.
MHS subjects and CHCT negative controls recruited from the North American MH Registry will have whole genome sequencing
Time frame: Within data collection period (5 years total).
Genomic factors that influence Malignant Hyperthermia.
A Batesian inference algorithm based on multiple genetic risk factors assessed from DNA data collected
Time frame: Within data collection period (5 years total).
Induced pluripotent stem cells will be used for functional testing and gene editing
Induced pluripotent stem cells will be made for future in-vitro analysis
Time frame: Indefinite - dependent on funding
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.