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

NCT ID: NCT06756620

Last Updated: 2025-09-08

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 51 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2024-12-24
• Study Completion Date: 2025-08-12

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.

Conditions

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

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

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.

No interventions assigned to this group

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.

No interventions assigned to this group

Eligibility Criteria

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

• Minimum Eligible Age: 7 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

The Scientific and Technological Research Council of Turkey

OTHER

Sponsor Role: collaborator

Istanbul University

OTHER

Sponsor Role: collaborator

Ozge Bayrak Demirel

OTHER

Sponsor Role: lead

Responsible Party

Ozge Bayrak Demirel

MD

Responsibility Role: SPONSOR_INVESTIGATOR

Principal Investigators

Ozge Bayrak Demirel, MD

Role: STUDY_DIRECTOR

Istanbul University

Locations

Istanbul University

Istanbul, , Turkey (Türkiye)

Countries

Turkey (Türkiye)

Other Identifiers

324S091

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

PORENDO

Identifier Type: -

Identifier Source: org_study_id