Investigation of the Etiology of Hypertension and Endothelial Damage in Patients With Cytochrome P450 Oxidoreductase Deficiency

This study investigates the etiology of hypertension and endothelial damage in patients with Cytochrome P450 Oxidoreductase (POR) deficiency. The study involves comparing ambulatory blood pressure monitoring (ABPM), endothelial biomarkers (Prostaglandin E2, Thromboxane B2, and Nitric Oxide levels), and capillaroscopy findings between POR deficiency patients and healthy controls.

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Key information

Conditions

Cytochrome P450 Oxidoreductase Deficiency Adrenal Gland Diseases Adrenal Hyperplasia, Congenital Adrenogenital Syndrome Antley-Bixler Syndrome Phenotype Bone Diseases Bone Diseases, Developmental Cardiovascular Diseases Congenital Abnormalities Congenital Adrenal Hyperplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disorders of Sex Development Dysostoses Endocrine System Diseases Endothelial Dysfunction Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Gonadal Disorders Hypertension Male Urogenital Diseases Metabolic Diseases Metabolism, Inborn Errors Musculoskeletal Abnormalities Musculoskeletal Diseases Nutritional and Metabolic Diseases Steroid Metabolism, Inborn Errors Synostosis Urogenital Abnormalities Urogenital Diseases Vascular Diseases

Age range

7 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Istanbul University

Istanbul, 34093, Turkey (Türkiye)

About this study

Cytochrome P450 Oxidoreductase (POR) deficiency is a rare autosomal recessive condition associated with congenital adrenal hyperplasia and other systemic complications. This study aims to elucidate the role of endothelial dysfunction and hypertension in POR deficiency by comparing the biochemical, vascular, and clinical parameters of POR-deficient patients with age- and gender-matched healthy controls. The research could pave the way for targeted therapeutic interventions.

Who can participate

Healthy volunteers accepted: Yes

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

Inclusion criteria

Genetically confirmed diagnosis of Cytochrome P450 Oxidoreductase (POR) deficiency
Diagnosis of POR deficiency before the age of 18.
Written informed consent provided by the participant and/or their legal guardian.

Exclusion criteria

Presence of an acute illness or other pathology identified during the study. Nail-biting habit or manicure within the last 14 days (due to potential impact on capillaroscopy results)
Use of medications other than physiologic hydrocortisone
Kidney, endocrine, or vascular pathologies that may cause hypertension
History of smoking or hand trauma

Treatment and study plan

Primary outcomes

Serum Endothelial Biomarkers (Prostaglandin E2, Thromboxane B2, and Nitric Oxide) in POR Deficiency Patients Compared to Healthy Controls

Time frame: Up to 6 months from the start of participant enrollment

This measure evaluates the serum levels of endothelial biomarkers, including Prostaglandin E2, Thromboxane B2, and Nitric Oxide, to determine differences between patients with Cytochrome P450 Oxidoreductase (POR) deficiency and healthy controls. These biomarkers are critical for assessing endothelial dysfunction, which may contribute to hypertension in POR deficiency patients.

Secondary outcomes

Ambulatory Blood Pressure Monitoring (ABPM) Findings in POR Deficiency Patients Compared to Healthy Controls

Time frame: Up to 6 months from the start of participant enrollment

This measure assesses the 24-hour ambulatory blood pressure monitoring (ABPM) results, including systolic, diastolic, and mean arterial pressures, in Cytochrome P450 Oxidoreductase (POR) deficiency patients compared to healthy controls. It aims to identify hypertension prevalence and nocturnal blood pressure patterns in POR deficiency patients.

Sponsors and collaborators

Lead sponsor

Ozge Bayrak Demirel

Other

Collaborators

Istanbul University
The Scientific and Technological Research Council of Turkey

Registry information

Acronym: PORENDO

Important dates

Study start: 2024
Primary completion: 2025
Study completion: 2025
First posted: Jan 3, 2025
Registry last updated: Sep 8, 2025

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.

Published trials that share one or more normalized conditions with this study.

Completed