Malignant Hyperthermia Registry and Genetic Testing

Stopped early

Conditions studied: Malignant Hyperthermia

In brief

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.

Key facts

Study ID

NCT02964481

Run by

Children's Hospital Medical Center, Cincinnati

People needed

64

Starts

2015-08-18

Expected to finish

2017-02-28

Last updated by the study team

2020-09-03

Who can join

Age: any. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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.

Where it is running

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

Full record on ClinicalTrials.gov

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