Malignant Hyperthermia Registry and Genetic Testing
| Status: | Recruiting |
|---|---|
| Conditions: | Infectious Disease |
| Therapuetic Areas: | Immunology / Infectious Diseases |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 2/3/2019 |
| Start Date: | August 2015 |
| End Date: | August 2020 |
| Contact: | John McAuliffe, MD |
| Email: | John.McAuliffe@cchmc.org |
| Phone: | (513)636-8535 |
Donation of Blood for Genetic Testing With Clinical Data From the North American Malignant Hyperthermia Registry
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.
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.
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.
Inclusion Criteria:
- Any English speaking person registered at NAHMR who has had a positive clinical
manifestation of Malignant Hyperthermia
- Any person with a positive Caffeine Halothane Contracture probTest (CHCT) or a close
relative of a person that had these.
Exclusion Criteria:
- Any person who has NOT had a positive clinical manifestation of Malignant Hyperthermia
- Any person with a positive Caffeine Halothane Contracture Test (CHCT) or NOT a close
relative of a person that had these. Non-English speaking registrants will be
excluded.
We found this trial at
1
site
3333 Burnet Avenue # Mlc3008
Cincinnati, Ohio 45229
Cincinnati, Ohio 45229
1-513-636-4200
Principal Investigator: John McAuliffe, MD
Phone: 513-636-8535
Cincinnati Children's Hospital Medical Center Patients and families from across the region and around the...
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