Registry for male patients with congenital adrenal hyperplasia

Electronic Registry of Male Patients With Congenital Adrenal Hyperplasia 21-hydroxylase Deficiency

This study is creating a registry for boys with congenital adrenal hyperplasia to better understand the condition and track how common it is in the Emilia Romagna region.

Quick facts

• Study type: Observational
• Enrollment: 30 (estimated)
• Ages: 18 Years and up
• Sex: Male
• Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna (Academic / other)
• Locations: 1 site (Bologna)
• Trial ID: NCT06754423 on ClinicalTrials.gov

What this trial studies

This observational study aims to create a registry for male patients diagnosed with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. It will include both newly diagnosed patients and those with prior diagnoses from other centers, allowing for a comprehensive understanding of the disease. The study will involve retrospective and prospective data collection, including laboratory tests and imaging studies, all conducted according to standard clinical practices. The registry will serve as a reference for calculating the incidence and prevalence of CAH in the Emilia Romagna region.

Who should consider this trial

Good fit: Ideal candidates for this study are male patients aged 18 years or older with a confirmed diagnosis of CAH due to 21-hydroxylase deficiency.

Not a fit: Patients with an uncertain diagnosis of CAH or those with CAH caused by other genetic mutations will not benefit from this study.

Why it matters

Potential benefit: If successful, this registry could enhance the understanding and management of congenital adrenal hyperplasia in male patients.

How similar studies have performed: While this approach is observational and builds on existing knowledge, similar registries have been successful in enhancing disease understanding and patient care.

Eligibility criteria

Inclusion Criteria:

* Male gender;
* Age 18 years or older;
* Newly or previously diagnosed patients with CAH from 21-hydroxylase enzyme deficiency, in whom CYP21A2 gene analysis for determination of pathological mutations and genotype has already been performed;
* Obtaining informed consent.

Exclusion Criteria:

* Patients with an unsure diagnosis of CAH;
* Patients with CAH caused by (or with the co-presence of) pathogenic molecular alterations other than mutations in the CYP21A2 gene.

Where this trial is running

Bologna

• IRCCS Azienda Ospedaliero Universitaria di Bologna — Bologna, Italy (Recruiting)

Study contacts

• Principal investigator: Alessandra Gambineri, MD — IRCCS Azienda Ospedaliero-Universitaria di Bologna
• Study coordinator: Alessandra Gambineri, MD

Conditions Congenital Adrenal Hyperplasia; Congenital adrenal hyperplasia