Investigating hypertension and endothelial damage in patients with a specific genetic deficiency
Investigation of the Etiology of Hypertension and Endothelial Damage in Patients with Cytochrome P450 Oxidoreductase Deficiency
This study is trying to understand how high blood pressure and blood vessel damage happen in people with a specific genetic deficiency to find better treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 37 (estimated) |
| Ages | 7 Years to 18 Years |
| Sex | All |
| Sponsor | Istanbul University Academic / other |
| Locations | 1 site (Istanbul) |
| Trial ID | NCT06756620 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on understanding the causes of hypertension and endothelial damage in patients with Cytochrome P450 Oxidoreductase (POR) deficiency. It compares various clinical parameters, including ambulatory blood pressure monitoring and endothelial biomarkers, between POR-deficient patients and healthy controls. The goal is to identify the role of endothelial dysfunction in this rare condition, which could lead to targeted therapeutic interventions. The study involves detailed biochemical and vascular assessments to elucidate the underlying mechanisms of the disease.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals with a genetically confirmed diagnosis of Cytochrome P450 Oxidoreductase deficiency diagnosed before the age of 18.
Not a fit: Patients with acute illnesses, other significant pathologies, or those who have recently undergone certain cosmetic procedures may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to improved management strategies for patients with Cytochrome P450 Oxidoreductase deficiency and related conditions.
How similar studies have performed: While this study addresses a rare condition, similar investigations into the role of endothelial dysfunction in other diseases have shown promising results, suggesting potential for success.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Istanbul
- Istanbul University — Istanbul, Turkey (Recruiting)
Study contacts
- Study coordinator: Ozge Bayrak Demirel, MD
- Email: ozge.bayrakdemirel@istanbul.edu.tr
- Phone: +905364834048
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.