ClinicalTrials.gov record NCT06754423
Electronic Registry of Male Patients With Congenital Adrenal Hyperplasia 21-hydroxylase Deficiency
Electronic Registry of Male Patients With Congenital Adrenal Hyperplasia 21-hydroxylase Deficiency
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This observational registry will gather past medical records and ongoing clinical data on adult men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. It combines retrospective and prospective follow-up in a single-center cohort and aims to create an electronic registry. Routine laboratory tests and imaging done for patient care will be used; retrospective data from diagnoses since 1960 may be included. The planned data-collection period runs through study completion around December 31, 2032.
What it is studying. The study is creating an electronic registry of adult men with 21-hydroxylase congenital adrenal hyperplasia and using those data to describe clinical and laboratory features, estimate prevalence, and characterize types of gonadal-function alterations in this group.
What the researchers hope to learn. To create an electronic registry and, from its data, describe clinical-laboratory features, estimate prevalence, and document types of gonadal-function alterations in adult men with 21-hydroxylase CAH.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
Observational, retrospective, prospective, single-center cohort study. Participation in the registry will be offered consecutively to any patient with the disease, newly diagnosed or with documented diagnosis made at another center, at any stage of the disease. Laboratory tests, imaging study for patient monitoring and care procedures all will be conducted in accordance with normal clinical practice.
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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.
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
Observational, retrospective, prospective, single-center cohort study conducted at the UOC of Endocrinology and Diabetes Prevention and Treatment of IRCCS AOU of Bologna. Participation in the Registry will be offered consecutively to any patient with the disease, newly diagnosed or with documented diagnosis made at another Center, at any stage of the disease. Laboratory tests, imaging study for patient monitoring, and care procedures all will be conducted in accordance with normal clinical practice. For the retrospective phase, patients whose diagnosis of CAH was made on or after 01/01/1960 will be enrolled, and observation related to this phase will be extended until this study is approved. The study population is partly from direct access at the U.O.C. of Endocrinology and Diabetes Prevention and Treatment, as the regional referral center for this rare disease (congenital adrenal hyperplasia). The potentially involved cohort is estimated to be about 30 patients at the time the registry was established. It is assumed that both retrospective and prospective phases can be completed in 15 subjects and retrospective alone in the remaining 15 subjects. The registry may become the reference for calculating incidence and prevalence in Emilia Romagna of the disease under study.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Participants' medical information will be entered into an electronic registry. For the retrospective phase, past medical records and data since the diagnosis date will be collected; for the prospective phase, routine clinical follow-up visits will be recorded. Laboratory tests, imaging studies and other care procedures will be those done as part of normal clinical practice and will be documented in the registry. The record does not specify additional experimental or invasive procedures beyond usual care.
How the study is structured. An observational registry (single-center cohort) that reviews past medical records and follows participants going forward. Data are taken from routine clinical care; participants are not assigned experimental treatments. Target duration is about 10 years, with retrospective records and prospective follow-up included.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in Italy. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on congenital adrenal hyperplasia
Important dates
- Study start
- Jun 24, 2022
- Primary completion
- Jun 24, 2032 (estimated)
- Study completion
- Dec 31, 2032 (estimated)
- Target enrollment
- 30 participants (estimated)
- Last updated on registry
- Dec 31, 2024
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Alessandra Gambineri, MD 📞 +390512144628 ✉ alessandra.gambineri@aosp.bo.it
Participating sites (1)
- IRCCS Azienda Ospedaliero Universitaria di BolognaRecruiting
Bologna, 40138 · Italy
- Alessandra Gambineri, MD · +390512144628 · alessandra.gambineri@aosp.bo.it
Terms used on this page · explanations by MedicalUpdates.ai
- cohort study
- A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.
- registry
- An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
- informed consent
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
← Back to clinical trials