Malignant Hyperthermia Registry and Genetic Testing

September 1, 2020 updated by: Children's Hospital Medical Center, Cincinnati

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.

Study Overview

Status

Terminated

Conditions

Intervention / Treatment

Detailed Description

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 (Actual)

64

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Ohio
      • Cincinnati, Ohio, United States, 45229
        • Cincinnati Children's Hospital Medical Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients with documented MH clinical presentation and CHCT negative controls from NAMHR

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Malignant Hyperthermia Phenotype cases
Samples from persons who identify as having the malignant hyperthermia phenotype by the North American MH Registry (NAMHR)
Genetic: Whole exome sequencing
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)
Genetic: Whole exome sequencing
DNA sequencing of protein coding sections of all genes

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Genetic comparison of MH phenotype subjects to that of the CHCT negative control subjects.
Time Frame: Within data collection period (5 years total).
MHS subjects and CHCT negative controls recruited from the North American MH Registry will have whole genome sequencing
Within data collection period (5 years total).

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Genomic factors that influence Malignant Hyperthermia.
Time Frame: Within data collection period (5 years total).
A Batesian inference algorithm based on multiple genetic risk factors assessed from DNA data collected
Within data collection period (5 years total).
Induced pluripotent stem cells will be used for functional testing and gene editing
Time Frame: Indefinite - dependent on funding
Induced pluripotent stem cells will be made for future in-vitro analysis
Indefinite - dependent on funding

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Children's Hospital Medical Center, Cincinnati

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 18, 2015

Primary Completion (Actual)

February 28, 2017

Study Completion (Actual)

February 28, 2017

Study Registration Dates

First Submitted

June 29, 2016

First Submitted That Met QC Criteria

November 11, 2016

First Posted (Estimate)

November 16, 2016

Study Record Updates

Last Update Posted (Actual)

September 3, 2020

Last Update Submitted That Met QC Criteria

September 1, 2020

Last Verified

August 1, 2020

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2015-1749

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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