CompletedNot Applicable

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

Turkey (Türkiye)51 participantsStarted 2024-12-24

Plain-language 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.

Who can participate

Age range7 Years

SexALL

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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

What they're measuring

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

Trial details

NCT IDNCT06756620

SponsorOzge Bayrak Demirel

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2025-08-12

View on ClinicalTrials.gov More Cytochrome P450 Oxidoreductase Deficiency trials