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Population at Risk of Malignant Hyperthermia: Ambispective Cohort.

NCT04287556 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 90

Last updated 2022-01-13

No results posted yet for this study

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).

Conditions

  • Hyperthermia, Malignant

Interventions

DIAGNOSTIC_TEST

In vitro contracture test (IVCT)

In vitro study of muscle contraction after exposure to different substances (caffeine and halothane).

DIAGNOSTIC_TEST

In vitro test of hypermetabolism in B lymphocytes

In vitro study of the activation of lymphocytes B after being incubated with a cocktail of primary antibodies and measuring the acidification in response to the RyR1, 4-CmC agonist, using ryanodine as a positive control.

DIAGNOSTIC_TEST

Genetic test

Analysis of genes related to MH (CACNA1S and RYR1).

Sponsors & Collaborators

  • Universidad Autonoma de Madrid

    collaborator OTHER

  • Instituto de Investigación Hospital Universitario La Paz

    lead OTHER

Principal Investigators

  • Elena Ramírez García · Clinical Pharmacology Department, La Paz University Hospital

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-02-26
Primary Completion
2025-02-28
Completion
2025-02-28

Countries

  • Spain

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04287556 on ClinicalTrials.gov