Clinical trial NCT05882136: Acute Intermittent Porphyria Related Abnormalities in Cardiovascular System
Official title: Assessment of the Structure and Function of Heart and Selected Cardiovascular Risk Factors in Patients With Acute Intermittent Porphyria
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Porphyrias, Hepatic
Keywords: acute intermittent porphyria
myocardial injury
heart failure
hypertension
cardiac arrhythmia
cardiovascular risk factors
lipid profile
quality of life
Lead sponsor: National Institute of Cardiology, Warsaw, Poland
Sponsor class: OTHER
Collaborators: name: Institute of Hematology and Transfusion Medicine, Warsaw
First posted: 2023-05-31
Enrollment: 180
Sex: ALL
Minimum age (years): 18
Maximum age (years): 65
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The patients with acute intermittent porphyria (AIP) meeting the eligibility criteria and people from the general population, matched by age, sex and body mass index.

Brief summary: This study aims to assess the changes in the cardiovascular system in patients with acute intermittent porphyria (AIP).

Detailed description: Porphyrias are heterogeneous group of the disorders of heme biosynthesis. Acute intermittent porphyria (AIP) is the most common acute hepatic porphyria, caused by the mutations in the gene encoding hydroxymethylbilane synthase. Clinical symptoms i.e. abdominal pain, nausea, vomiting, paresis or paralysis, coma and/or mental abnormalities may be induced by many porphyrinogenic factors, such as drugs, alcohol, starvation or stress. The symptoms are often accompanied by tachycardia and elevated blood pressure. Due to the non-specific clinical picture, AIP is often diagnosed too late and causes a threat to the patients' lives.

There is a scarcity of data regarding the changes in cardiovascular system in patients with AIP. The aim of this study is to assess the structure and function of heart in patients with this disease. The prevalence of hypertension, cardiac arrhythmias and selected cardiovascular risk factors in patients with AIP will also be evaluated.

This is a case-control study with prospective observation of the subgroup of patients examined during the exacerbations of AIP.

Specific goals:

* assessment of the cardiac morphology and function,
* assessment of the concentrations of markers of myocardial injury (troponin T) and heart failure (NT-proBNP),
* assessment of the prevalence of cardiac arrhythmias and electrocardiographic abnormalities,
* assessment of the blood pressure profiles,
* assessment of selected cardiovascular risk factors,
* assessment of quality of life,
* assessment of clinical and biochemical factors associated with the pathological findings in patients with AIP.

Eligibility criteria: Inclusion Criteria:

* acute intermittent porphyria (AIP),
* age 18-65 years,
* at least one hospitalization due to exacerbation of AIP.

Exclusion Criteria:

* previous myocardial infarction,
* heart failure of established (other than porphyria) etiology,
* severe heart valve disease,
* congenital heart defects,
* history of myocarditis,
* pacemaker,
* hyperthyroidism / hypothyroidism (except for adequate thyroid hormone replacement therapy),
* chronic advanced lung diseases,
* lack of consent to participate in the study.

Primary outcomes:
measure: Number of participants with heart failure and left ventricular dysfunction.
timeFrame: day 1 and up to 2 years in case of the exacerbation of AIP
measure: Number of participants with hypertension.
timeFrame: day 1 and up to 2 years in case of the exacerbation of AIP
measure: Rate of cardiac arrhythmias.
timeFrame: day 1 and up to 2 years in case of the exacerbation of AIP
Secondary outcomes:
measure: Number of participants with increased concentrations of markers of heart failure.
timeFrame: day 1 and up to 2 years in case of the exacerbation of AIP
measure: Number of participants with increased concentrations of markers of myocardial injury.
timeFrame: day 1 and up to 2 years in case of the exacerbation of AIP
measure: Number of participants with chronic kidney disease.
timeFrame: day 1 and up to 2 years in case of the exacerbation of AIP
measure: Number of participants with dyslipidemia.
timeFrame: day 1
measure: Number of participants with diabetes.
timeFrame: day 1
measure: Level of quality of life.
timeFrame: day 1
Other outcomes:
Locations:
city: Warsaw
country: Poland
facility: Institute of Hematology and Transfusion Medicine
city: Warsaw
country: Poland
facility: National Institute of Cardiology
Study officials:
affiliation: National Institute of Cardiology, Warsaw, Poland
name: Krzysztof Jaworski, MD
role: PRINCIPAL_INVESTIGATOR
References: