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

Launched by OZGE BAYRAK DEMIREL · Dec 26, 2024

Keywords

ClinConnect Summary

This clinical trial is looking at how a specific genetic condition called Cytochrome P450 Oxidoreductase (POR) deficiency affects blood pressure and blood vessel health. Researchers want to understand the reasons behind high blood pressure and damage to the blood vessels in people with this condition. They will compare the blood pressure, certain biological markers, and small blood vessel details between patients with POR deficiency and healthy individuals.

To participate in this study, you need to have a confirmed diagnosis of POR deficiency that was made before you turned 18 years old. You and your legal guardian must also agree to take part in the study. Participants will undergo tests to monitor their blood pressure and collect samples to check for specific markers related to blood vessel health. It’s important to note that if you have any recent illnesses or specific habits that could affect the test results, you may not be eligible. This study is currently looking for participants aged between 25 and 65, regardless of gender.

Gender

ALL

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