Congenital Adrenal HyperplasiaNCT06754423
Electronic Registry of Male Patients With Congenital Adrenal Hyperplasia 21-hydroxylase Deficiency
An observational study of Congenital Adrenal Hyperplasia, run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 1 site in Italy.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and older, men only
- Conditions the study is for
- Congenital Adrenal Hyperplasia
- How many people
- 30 participants
- Where
- 1 siteItaly
- Study dates
- 24 Jun 2022to 31 Dec 2032
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- Men only
- No healthy volunteers
- Adult, Older adult
Study population: The study population partly comes from direct access at the O.U. of Endocrinology and Diabetes Prevention and Treatment, as a regional referral center for this rare disease (congenital adrenal hyperplasia). A second part afferents instead from the O.U. of Pediatrics of the Polyclinic through the "interdepartmental procedure for the management of the transition of patients with endocrine-metabolic diseases from pediatric endocrinology to adult endocrinology."
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
IRCCS Azienda Ospedaliero Universitaria di Bologna
Bologna, 40138
Alessandra Gambineri, MD, +390512144628, alessandra.gambineri@aosp.bo.it
About this study
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.
Read the detailed description
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.
- Conditions
- Congenital Adrenal Hyperplasia
- Keywords
- Congenital adrenal hyperplasia
- Medical subject headings
- Adrenal Hyperplasia, Congenital
What is being measured
The primary outcome is the main question the study is designed to answer.
Creation of an electronic registry
The primary objective of the study is to create an electronic registry and, through the data contained therein, to describe the clinical-laboratory aspects, prevalence, and type of alterations in gonadal function of a cohort of male patients, aged 18 years or older, with congenital adrenal hyperplasia from 21-hydroxylase deficiency regardless of the time of diagnosis.
Measured: through study completion, an average on 31 December 2032
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Dec 2024
- Study start24 Jun 2022
- Primary completion24 Jun 2032 (estimated)
- Study completion31 Dec 2032 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Adrenal HyperplasiaStudies of the same condition, open and under way.
- More trials run by IRCCS Azienda Ospedaliero-Universitaria di BolognaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 30 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Alessandra Gambineri, MD, Principal investigator, IRCCS Azienda Ospedaliero-Universitaria di Bologna
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06754423
- Sponsor's protocol ID
- AndroCAH
- Status last verified
- Dec 2024
- First submitted
- 1 Dec 2024
- Last updated
- 31 Dec 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 31 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Electronic Registry of Male Patients With Congenital Adrenal Hyperplasia 21-hydroxylase Deficiency
- ClinicalTrials.gov ID
- NCT06754423
- Acronym / sponsor ID
- AndroCAH
- Conditions
- Congenital Adrenal Hyperplasia
- Keywords
- Congenital adrenal hyperplasia
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- IRCCS Azienda Ospedaliero-Universitaria di BolognaUniversity, hospital or other
- Study start
- 24 Jun 2022 (actual)
- Primary completion
- 24 Jun 2032 (estimated)
- Study completion
- 31 Dec 2032 (estimated)
- First posted
- 31 Dec 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 10 Years
Who may qualify
- Ages
- 18 years and older
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- The study population partly comes from direct access at the O.U. of Endocrinology and Diabetes Prevention and Treatment, as a regional referral center for this rare disease (congenital adrenal hyperplasia). A second part afferents instead from the O.U. of Pediatrics of the Polyclinic through the "interdepartmental procedure for the management of the transition of patients with endocrine-metabolic diseases from pediatric endocrinology to adult endocrinology."
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Creation of an electronic registry
Time frame: through study completion, an average on 31 December 2032
The primary objective of the study is to create an electronic registry and, through the data contained therein, to describe the clinical-laboratory aspects, prevalence, and type of alterations in gonadal function of a cohort of male patients, aged 18 years or older, with congenital adrenal hyperplasia from 21-hydroxylase deficiency regardless of the time of diagnosis.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Dec 2024.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Alessandra Gambineri, MD principal investigator
IRCCS Azienda Ospedaliero-Universitaria di Bologna
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Adrenal Hyperplasia, run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 31 Dec 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Alessandra Gambineri, MD (+390512144628, alessandra.gambineri@aosp.bo.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Creation of an electronic registry (time frame: through study completion, an average on 31 December 2032). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 31 Dec 2024.