Registry for male patients with congenital adrenal hyperplasia

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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
• Email: alessandra.gambineri@aosp.bo.it
• Phone: +390512144628

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Atumelnant for adults with classic congenital adrenal hyperplasia

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• Long-term evaluation of atumelnant for congenital adrenal hyperplasia

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• Evaluating Lu AG13909 for treating congenital adrenal hyperplasia

  This study is testing different doses of a new medication called Lu AG13909 to see if it can safely help adults with congenital adrenal hyperplasia manage their hormone levels better.

  Recruiting at 17 sites Phase 1/2 H. Lundbeck A/S · Ann Arbor, Michigan and 16 other locations · NCT05669950

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.