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

NCT ID: NCT06754423

Last Updated: 2024-12-31

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

30 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-06-24

Study Completion Date

2032-12-31

Brief Summary

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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

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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

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Congenital Adrenal Hyperplasia

Keywords

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Congenital adrenal hyperplasia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Eligibility Criteria

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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.
Minimum Eligible Age

18 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

No

Sponsors

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IRCCS Azienda Ospedaliero-Universitaria di Bologna

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Alessandra Gambineri, MD

Role: PRINCIPAL_INVESTIGATOR

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Locations

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IRCCS Azienda Ospedaliero Universitaria di Bologna

Bologna, , Italy

Site Status RECRUITING

Countries

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Italy

Central Contacts

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Alessandra Gambineri, MD

Role: CONTACT

Phone: +390512144628

Email: [email protected]

Facility Contacts

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Alessandra Gambineri, MD

Role: primary

Other Identifiers

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AndroCAH

Identifier Type: -

Identifier Source: org_study_id