Malignant Hyperthermia Registry and Genetic Testing
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT02964481|
Recruitment Status : Recruiting
First Posted : November 16, 2016
Last Update Posted : February 1, 2019
|Condition or disease|
|Study Type :||Observational|
|Estimated Enrollment :||130 participants|
|Official Title:||Donation of Blood for Genetic Testing With Clinical Data From the North American Malignant Hyperthermia Registry|
|Study Start Date :||August 2015|
|Estimated Primary Completion Date :||August 2020|
|Estimated Study Completion Date :||August 2020|
Malignant Hyperthermia Phenotype cases
Samples from persons who identify as having the malignant hyperthermia phenotype by the North American MH Registry (NAMHR)
Caffeine Halothane Contracture Test negative controls
Controls who had negative Caffeine Halothane Contracture Test (CHCT) from North American MH Registry (NAMHR)
- 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
- Genomic and demographic factors that influence Malignant Hyperthermia. [ Time Frame: Within data collection period (5 years total). ]A diagnostic predictive algorithm based on multiple genetic and other risk factors assessed from DNA data collected on NAMHR subjects and CCHMC subjects will be used to differentiate MH influences.
- Isolate DNA from blood samples to obtain information [ Time Frame: Within data collection period (5 years total). ]Blood samples will be used to obtain DNA methylation information by measuring CpG sites in important genes (RYR1, CACNA1S, STAC3 and other MH relevant genes) and/or use of the MethylationEPIC array.
- Induced pluripotent stem cells will be used for functional testing and gene editing [ Time Frame: Within data collection period (5 years total). ]Induced pluripotent stem cells will be differentiated into skeletal muscle cells and functional testing of the ryanodine receptor will be performed. In addition, gene editing using CRISPR technology will be performed to edit/delete variants of uncertain significance.
- Differences in expression of MH related genes will be assessed by RNA sequencing [ Time Frame: Within data collection period (5 years total). ]RYR1 (and other MH related genes) in MH phenotype cases and controls will be assessed by RNA sequencing.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02964481
|Contact: John McAuliffe, MD||(513)636-8535||John.McAuliffe@cchmc.org|
|Contact: Kristi Barnett||(513) 636-5983||Kristi.email@example.com|
|United States, Ohio|
|Cincinnati Children's Hospital Medical Center||Recruiting|
|Cincinnati, Ohio, United States, 45229|
|Contact: John McAuliffe, MD 513-636-8535 John.Mcauliffe@cchmc.org|
|Contact: Kristi Barnett 5136365983 firstname.lastname@example.org|
|Principal Investigator: John McAuliffe, MD|