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

Ozge Bayrak Demirel

Status: Completed

Conditions: Hypertension; Endothelial Dysfunction; Cytochrome P450 Oxidoreductase Deficiency; Congenital Adrenal Hyperplasia

Study type: Observational

Funder types: Other

Identifiers

NCT06756620

324S091 (Other Grant/Funding Number)

PORENDO

Details and patient eligibility

About

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.

Full 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.

Enrollment: 51 patients

Sex: All

Ages: 7 to 18 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

51 participants in 2 patient groups

POR deficiency

Description:

This group includes 7 pediatric patients with genetically confirmed Cytochrome P450 Oxidoreductase (POR) deficiency under follow-up at Istanbul University, Istanbul Faculty of Medicine. The participants will undergo ambulatory blood pressure monitoring (ABPM), nailfold capillaroscopy, and blood sampling for analysis of endothelial damage biomarkers (Prostaglandin E2, Thromboxane B2, and Nitric Oxide). These patients are currently receiving physiologic doses of hydrocortisone as part of their standard care.

Healthy Control Group

Description:

This group consists of 30 healthy children and adolescents recruited from Istanbul University, Istanbul Faculty of Medicine. Participants are age- and gender-matched to the POR deficiency group. They will undergo ambulatory blood pressure monitoring (ABPM), nailfold capillaroscopy, and blood sampling for analysis of endothelial damage biomarkers (Prostaglandin E2, Thromboxane B2, and Nitric Oxide). These participants have no known medical conditions or history of chronic illness.