Malignant Hyperthermia Registry and Genetic Testing

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

64 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-08-18

Study Completion Date

2017-02-28

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Malignant Hyperthermia

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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Malignant Hyperthermia Phenotype cases

Samples from persons who identify as having the malignant hyperthermia phenotype by the North American MH Registry (NAMHR)

Whole exome sequencing

Intervention Type GENETIC

DNA sequencing of protein coding sections of all genes

Caffeine Halothane Contracture Test negative controls

Controls who had negative Caffeine Halothane Contracture Test (CHCT) from North American MH Registry (NAMHR)

Whole exome sequencing

Intervention Type GENETIC

DNA sequencing of protein coding sections of all genes

Interventions

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Whole exome sequencing

DNA sequencing of protein coding sections of all genes

Intervention Type GENETIC

Eligibility Criteria

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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.

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes