Clinical trial NCT06756620: Investigation of the Etiology of Hypertension and Endothelial Damage in Patients With Cytochrome P450 Oxidoreductase Deficiency
Official title: Investigation of the Etiology of Hypertension and Endothelial Damage in Patients With Cytochrome P450 Oxidoreductase Deficiency
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Cytochrome P450 Oxidoreductase Deficiency
Hypertension
Endothelial Dysfunction
Congenital Adrenal Hyperplasia
Keywords: Cytochrome P450 Oxidoreductase Deficiency
POR Deficiency
Hypertension
Endothelial Dysfunction
Congenital Adrenal Hyperplasia
Lead sponsor: Istanbul University
Sponsor class: OTHER
Collaborators: name: The Scientific and Technological Research Council of Turkey
name: Istanbul University
First posted: 2025-01-03
Enrollment: 37
Sex: ALL
Minimum age (years): 7
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: CROSS_SECTIONAL
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.

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.

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

Primary outcomes:
measure: Serum Endothelial Biomarkers (Prostaglandin E2, Thromboxane B2, and Nitric Oxide) in POR Deficiency Patients Compared to Healthy Controls
timeFrame: Up to 6 months from the start of participant enrollment
Secondary outcomes:
measure: Ambulatory Blood Pressure Monitoring (ABPM) Findings in POR Deficiency Patients Compared to Healthy Controls
timeFrame: Up to 6 months from the start of participant enrollment
Other outcomes:
Locations:
city: Istanbul
country: Turkey
facility: Istanbul University
Study officials:
affiliation: Istanbul University
name: Ozge Bayrak Demirel, MD
role: STUDY_DIRECTOR
References: