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Completed

NCT Number: NCT05882136

Acute Intermittent Porphyria Related Abnormalities in Cardiovascular System

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

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Key information

Conditions

Porphyrias, Hepatic Arrhythmias, Cardiac Cardiovascular Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases Genetic Diseases, Inborn Heart Diseases Heart Failure Hypertension Liver Diseases Metabolic Diseases Nutritional and Metabolic Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Porphyria, Acute Intermittent Porphyrias Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases Vascular Diseases

Age range

18 year–65 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Institute of Hematology and Transfusion Medicine, Warsaw, Poland

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About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Number of participants with heart failure and left ventricular dysfunction.

    Time frame: day 1 and up to 2 years in case of the exacerbation of AIP

    Heart failure and left ventricular dysfunction assessed by symptoms and echocardiography.

  2. Number of participants with hypertension.

    Time frame: day 1 and up to 2 years in case of the exacerbation of AIP

    Arterial hypertension diagnosed by ambulatory 24-hour blood pressure monitoring.

  3. Rate of cardiac arrhythmias.

    Time frame: day 1 and up to 2 years in case of the exacerbation of AIP

    Cardiac arrhythmias observed in 24-hour ECG monitoring.

Secondary outcomes

  1. Number of participants with increased concentrations of markers of heart failure.

    Time frame: day 1 and up to 2 years in case of the exacerbation of AIP

    Concentration of N-terminal pro-B-type natriuretic peptide (NT-proBNP) > 125 pg/mL in serum.

  2. Number of participants with increased concentrations of markers of myocardial injury.

    Time frame: day 1 and up to 2 years in case of the exacerbation of AIP

    Concentration of high sensitivity troponin T > 14 ng/L in serum.

  3. Number of participants with chronic kidney disease.

    Time frame: day 1 and up to 2 years in case of the exacerbation of AIP

    Renal function defined by estimated glomerular filtration rate based on the concentrations of creatinine in serum.

  4. Number of participants with dyslipidemia.

    Time frame: day 1

    Dyslipidemia defined as the concentrations of total cholesterol > 190 mg/dL, low density lipoprotein (LDL) cholesterol > 115 mg/dL, high density lipoprotein (HDL) cholesterol < 48 mg/dL (female), < 40 mg/dL (male), triglycerides > 150 mg/dL.

  5. Number of participants with diabetes.

    Time frame: day 1

    Diabetes in anamnesis or the concentration of glycated hemoglobin > 6.5%.

  6. Level of quality of life.

    Time frame: day 1

    Physical and mental components defined by the Short Form 36 survey (SF36). Answers are weighted and transformed into scores in a scale ranging from 0 (the lowest possible level of functioning) to 100 (no restrictions).

Sponsors and collaborators

Lead sponsor

National Institute of Cardiology, Warsaw, Poland

Other

Collaborators

  • Institute of Hematology and Transfusion Medicine, Warsaw

Registry information

Official study title

Assessment of the Structure and Function of Heart and Selected Cardiovascular Risk Factors in Patients With Acute Intermittent Porphyria

Acronym: AIPRACUS

Important dates

Study start
2019
Primary completion
2024
Study completion
2024
First posted
May 31, 2023
Registry last updated
Apr 2, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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