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Rare enzyme Disorder's blood pressure mystery probed

NCT ID NCT06756620

Knowledge-focused Sponsor: Ozge Bayrak Demirel Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 26, 2026 · Last updated Jun 26, 2026

Summary

This completed study investigated why patients with Cytochrome P450 Oxidoreductase (POR) deficiency, a rare genetic condition, often develop high blood pressure and blood vessel damage. Researchers compared 51 participants (patients and healthy controls) using 24-hour blood pressure monitors, blood tests for vessel-related markers, and nail-fold microscopy. The goal was to uncover the underlying causes, not to test a new treatment.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this research could clarify the causes of high blood pressure in POR deficiency, pointing toward better monitoring or future treatments.
What could go wrong
This is a small, completed observational study (51 participants) that measures biomarkers, not a treatment trial. Findings may not lead directly to new therapies or apply to all patients.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

51 people

The number who actually took part.

Started

Dec 2024

Finished

Aug 2025

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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.

Ages

7 years and older

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

Antley-Bixler Syndrome Phenotype congenital adrenal hyperplasia congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency hypertensive disorder

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Congenital adrenal hyperplasia Cytochrome P450 oxidoreductase deficiency Endothelial dysfunction Hypertension

Contacts and locations

Locations

  • Istanbul University

    Istanbul, 34093, Turkey (Türkiye)

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