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

NCT06756620 | Completed DMC

• 2 other identifiers: PORENDO324S091
• Study Type: observational
• Target: 51
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

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

Outcome Measures

Primary Outcomes (1)

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

  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.

  Up to 6 months from the start of participant enrollment

Secondary Outcomes (1)

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

  Up to 6 months from the start of participant enrollment

Study Arms (2)

POR deficiency

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

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.

Eligibility Criteria

• Age: 7 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study population consists of two groups: (1) 7 pediatric patients with genetically confirmed Cytochrome P450 Oxidoreductase (POR) deficiency under follow-up at Istanbul University and (2) 30 healthy children and adolescents matched by age and gender, without any known medical conditions. The population aims to evaluate the impact of POR deficiency on hypertension and endothelial damage.

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Ozge Bayrak Demirel: lead
• The Scientific and Technological Research Council of Turkey: collaborator
• Istanbul University: collaborator

Study Sites (1)

Istanbul University

Istanbul, 34093, Turkey (Türkiye)

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Venous blood samples will be retained to analyze endothelial damage biomarkers, including Prostaglandin E2, Thromboxane B2, and Nitric Oxide. Serum samples will be centrifuged and stored at -80°C for future biochemical analysis.

MeSH Terms

Conditions

Antley-Bixler Syndrome Phenotype; Hypertension; Adrenal Hyperplasia, Congenital

Condition Hierarchy (Ancestors)

Synostosis; Dysostoses; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Musculoskeletal Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Steroid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Nutritional and Metabolic Diseases; Vascular Diseases; Cardiovascular Diseases; Adrenogenital Syndrome; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Adrenal Gland Diseases; Endocrine System Diseases; Gonadal Disorders

Study Officials

• Ozge Bayrak Demirel, MD

  Istanbul University

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: MD

Study Record Dates

• First Submitted: December 26, 2024
• First Posted: January 3, 2025
• Study Start: December 24, 2024
• Primary Completion: August 12, 2025
• Study Completion: August 12, 2025
• Last Updated: September 8, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

TU (1)