Actively Recruiting
Electronic Registry of Male Patients With Congenital Adrenal Hyperplasia 21-hydroxylase Deficiency
Led by IRCCS Azienda Ospedaliero-Universitaria di Bologna · Updated on 2024-12-31
30
Participants Needed
1
Research Sites
27 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
This observational cohort study focuses on male patients with Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency. It includes both newly diagnosed patients and those previously diagnosed at other centers, covering all stages of the disease. The study aims to create an electronic registry to better understand the incidence and prevalence of this rare condition, particularly in the Emilia Romagna region. Participants will be monitored through laboratory tests and imaging studies that follow standard clinical care practices. The study includes a retrospective phase enrolling patients diagnosed from 1960 onward and a prospective phase for ongoing observation. Both phases together aim to enroll about 30 male patients, with some contributing to retrospective data only. Throughout the study, patients will undergo routine clinical evaluations as part of their care. Data collected will include medical history, laboratory results, and imaging findings. The primary outcome is the establishment of a comprehensive electronic registry, with observations extending until the end of 2032. Participation involves no additional interventions beyond standard care.
CONDITIONS
Brief Title
Electronic Registry of Male Patients With Congenital Adrenal Hyperplasia 21-hydroxylase Deficiency
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Male gender
- Age 18 years or older
- Newly or previously diagnosed with Congenital Adrenal Hyperplasia due to 21-hydroxylase enzyme deficiency
- CYP21A2 gene analysis showing pathological mutations and genotype already performed
- Able to provide informed consent
You will not qualify if you...
- Uncertain diagnosis of Congenital Adrenal Hyperplasia
- Congenital Adrenal Hyperplasia caused by or with molecular alterations other than CYP21A2 gene mutations
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to approximately 10 years until study completion
Participants who undergo routine care are observed to collect laboratory tests, imaging studies, and care procedures as part of normal clinical practice.
Visits as per routine clinical care
Trial Site Locations
Total: 1 location
1
IRCCS Azienda Ospedaliero Universitaria di Bologna
Bologna, Italy, 40138
Actively Recruiting
Research Team
A
Alessandra Gambineri, MD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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