Population at Risk of Malignant Hyperthermia: Ambispective Cohort.
-
- STATUS
- Recruiting
-
- days left to enroll
- 68
-
- participants needed
- 90
-
- sponsor
- Instituto de Investigación Hospital Universitario La Paz
Summary
Malignant hyperthermia (MH) is a pharmacogenetic disease that manifests itself as a hypermetabolic response of skeletal musculature, in genetically susceptible patients, with the inhalation of volatile halogenated anesthetics, depolarizing neuromuscular relaxants such and, rarely, physical stressors such as intense exercise and heat stroke.
HM diagnosis is based on the performance of two tests:
- In vitro muscle contraction test (IVCT): it is the gold standard of the diagnosis of HM in Europe.
- Pharmacogenetic study: about 50 genetic variants associated with HM have been described.
It also has been described that B lymphocytes of patients with MH have metabolic alterations.
The main objective is to evaluate the association of disorders that occur with hypermetabolic response of skeletal musculature and susceptibility to malignant hyperthermia (MH).
Description
Malignant hyperthermia (MH) is a pharmacogenetic disease that manifests itself as a hypermetabolic response of skeletal musculature, in genetically susceptible patients, with the inhalation of volatile halogenated anesthetics, depolarizing neuromuscular relaxants such and, rarely, physical stressors such as intense exercise and heat stroke.
Risk factors to present this disease are:
- An adverse reaction to general anesthesia manifested as an unexplained increase in carbon, dioxide production, tachycardia, temperature rise, muscle. stiffness, rhabdomyolysis, disseminated intravascular coagulation or death, or both. During anesthesia or within 60 minutes of treatment discontinuation.
- Family history of unexplained perioperative death.
- Postoperative rhabdomyolysis after clinical exclusion of other myopathies.
- Stress rhabdomyolysis, recurrent or persistent rhabdomyolysis increased serum creatine kinase concentration where no cause has been identified after neurological study (idiopathic hyperCKemia).
- Heat stroke by effort that requires hospital admission, where known predisposing factors have been excluded.
- Other myopaties Extreme physical activity, as well as environments with high temperatures favor the appearance of ischemia, anoxia and release of calcium from the sarcoplasmic reticulum, thus increasing the risk of developing MH.
There are also other infrequent diseases in which there is a ryanodine canalopathy by a mechanism similar to that seen in MH, but in cells of tissues other than skeletal striated muscle; as well as some drugs and other rare diseases that may be related to MH.
Despite the rarity of MH and given the severity of the disease clinic, it is mandatory to explore possible risks in patients with hypermetabolic response of skeletal musculature due to rare or trigger diseases (medications, drugs of abuse, exercise, extreme heat, others) whose MH risk is not defined.
Although the standard method for the diagnosis of MH is the in vitro test for halothane caffeine contraction (IVCT), it has been described that B lymphocytes of patients with MH have metabolic alterations. Alto, there are about 50 genetic variants associated with MH that have been described.
Details
Condition | Malignant Hyperthermia |
---|---|
Age | 100years or below |
Treatment | In vitro contracture test (IVCT), In vitro test of hypermetabolism in B lymphocytes, Genetic test |
Clinical Study Identifier | NCT04287556 |
Sponsor | Instituto de Investigación Hospital Universitario La Paz |
Last Modified on | 19 February 2024 |
How to participate?
,
You have contacted , on
Your message has been sent to the study team at ,
What happens next?
- You can expect the study team to contact you via email or phone in the next few days.
- Sign up as volunteer to help accelerate the development of new treatments and to get notified about similar trials.
You are contacting
Primary Contact
Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.
Learn moreIf you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.
Learn moreComplete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.
Learn moreSimilar trials to consider
Not finding what you're looking for?
Sign up as a volunteer to stay informed
Every year hundreds of thousands of volunteers step forward to participate in research. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.
Sign up as volunteerStudy AnnotationsStudy Notes
Notes added here are public and can be viewed by anyone. Notes added here are only available to you and those who you share with.
Lorem ipsum dolor sit amet consectetur, adipisicing elit. Ipsa vel nobis alias. Quae eveniet velit voluptate quo doloribus maxime et dicta in sequi, corporis quod. Ea, dolor eius? Dolore, vel!
No annotations made yet
Add a private note
- Select a piece of text from the left.
- Add notes visible only to you.
- Send it to people through a passcode protected link.
Study Definition
WikipediaAdd a private note
- Select a piece of text.
- Add notes visible only to you.
- Send it to people through a passcode protected link.