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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06756620

Acronym

PORENDO

Enrollment

Registered

2025-01-03

Start date

2024-12-24

Completion date

2025-08-12

Last updated

2025-09-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Congenital Adrenal Hyperplasia, Cytochrome P450 Oxidoreductase Deficiency, Endothelial Dysfunction, Hypertension

Keywords

Cytochrome P450 Oxidoreductase Deficiency, POR Deficiency, Hypertension, Endothelial Dysfunction, Congenital Adrenal Hyperplasia

Brief summary

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.

Detailed description

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.

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

7 Years to No maximum

Healthy volunteers

Yes

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

Design outcomes

Primary

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

Measure	Time frame	Description
Ambulatory Blood Pressure Monitoring (ABPM) Findings in POR Deficiency Patients Compared to Healthy Controls	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.

Countries

Turkey (Türkiye)

Outcome results