Congenital Adrenal HyperplasiaNCT06728748
Retrospective Multicentre Study on the Impact of Neonatal Screening for Congenital Adrenal Hyperplasia in Italy
An observational study of Congenital Adrenal Hyperplasia, run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 4 sites in Italy.
Trial summary
Oservational, retrospective, multicenter study focused on neonatal screening for Congenital Adreanl Hyperplasia. Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- Congenital Adrenal Hyperplasia
- How many people
- 29 participants
- Where
- 4 sitesItaly
- Study dates
- 23 Oct 2020to 15 Sep 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
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 Up to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: The study refers to neonates who underwent neonatal screening for Congenital Adreanl Hyperplasia between January 2006 and December 2019 at participating centres, but only patients diagnosed with Congenital Adreanl Hyperplasia are enrolled in the study.
Who may be able to join
- Neonatal who underwent neonatal screening for congenital adrenal hyperplasia between January 2006 and December 2019 at participating centres;
- Patients diagnosed with Congenital Adrenal Hyperplasia;
- Obtaining informed consent.
Who cannot join
- None.
Trial locations and contacts
4 sites in 1 country.
Italy4 sites
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, 40138
IRCCS Ospedale San Raffaele
Milan, Milano, 20132
Azienda Ospedaliera Città della Salute e della Scienza di Torino
Torino, Torino, 10123
Azienda Ospedaliera Universitaria Integrata Verona:
Verona, Verona, 37126
About this study
Oservational, retrospective, multicenter study focused on neonatal screening for Congenital Adreanl Hyperplasia.
Read the detailed description
The study refers to neonates who underwent neonatal screening for Congenital Adreanl Hyperplasia between January 2006 and December 2019 at participating centres, but only patients diagnosed with Congenital Adreanl Hyperplasia are enrolled in the study.
The primary aims are: to assess the incidence of classic Congenital Adrenal Hyperplasia in neonates who underwent neonatal screening in the reporting period; to calculate the sensibility of Neonatal Screening for classic Congenital Adrenal Hyperplasia; to calculate the positive predictive rate. The secondary aims are: to describe the biochemical, hormonal, and clinical features of neonates at diagnosis of Congenital Adrenal Hyperplasia; to assess the time required for diagnosis; to calculate the false positive rate; to calculate the diagnostic impact of neonatal screening for Congenital Adrenal Hyperplasia.
- 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.
Incidence of classic Congenital Adrenal Hyperplasia in neonates who underwent neonatal screening in the reporting period
number of patients diagnosed with classic Congenital Adrenal Hyperplasia between January 2006 and December 2019
Measured: at baseline
Sensibility of Neonatal Screening for classic Congenital Adrenal Hyperplasia
Sensibility of Neonatal Screening
Measured: at baseline
Positive predictive rate
TP / (TP + FP)
Measured: at baseline
Secondary outcomes (8)
Neonatal clinical features at diagnosis of Congenital Adrenal Hyperplasia
gestational age (weeks)
Measured: at baseline
Neonatal clinical features at diagnosis of Congenital Adrenal Hyperplasia
neonatal weight (g)
Measured: at baseline
Neonatal biochemical features at diagnosis of Congenital Adrenal Hyperplasia
serum electrolytes
Measured: at baseline
Neonatal hormonal features at diagnosis of Congenital Adrenal Hyperplasia
blood renin value (microU/mL)
Measured: at baseline
Neonatal hormonal features at diagnosis of Congenital Adrenal Hyperplasia
blood plasma values of 17α-hydroxyprogesterone (ng/dL)
Measured: at baseline
Time required for diagnosis of Congenital Adrenal Hyperplasia
Time required for diagnosis
Measured: at baseline
False positive rate
TP / (TP + FP)
Measured: at baseline
Diagnostic impact of neonatal screening for Congenital Adrenal Hyperplasia
ratio between the number of subjects with a suspected diagnosis and the number of subjects in whom the diagnosis was not suspected
Measured: at baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Dec 2024
- Study start23 Oct 2020
- Primary completion31 Dec 2024
- Study completion15 Sep 2025
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
- Retrospective
- Enrolment
- 29 participants (actual)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Federico Baronio, IRCCS Azienda Ospedaliero-Universitaria di Bologna
- Investigators
- Federico Baronio, MD, Principal investigator, IRCCS Azienda Ospedaliero-Universitaria di Bologna
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06728748
- Sponsor's protocol ID
- ISCREEN
- Status last verified
- Nov 2025
- First submitted
- 3 Dec 2024
- Last updated
- 12 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Retrospective Multicentre Study on the Impact of Neonatal Screening for Congenital Adrenal Hyperplasia in Italy
- ClinicalTrials.gov ID
- NCT06728748
- Acronym / sponsor ID
- ISCREEN
- Conditions
- Congenital Adrenal Hyperplasia
- Keywords
- Congenital Adrenal Hyperplasia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 29 participants (actual)
- Lead sponsor
- IRCCS Azienda Ospedaliero-Universitaria di BolognaUniversity, hospital or other
- Study start
- 23 Oct 2020 (actual)
- Primary completion
- 31 Dec 2024 (actual)
- Study completion
- 15 Sep 2025 (actual)
- First posted
- 11 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.
Oservational, retrospective, multicenter study focused on neonatal screening for Congenital Adreanl Hyperplasia.
Detailed description
The study refers to neonates who underwent neonatal screening for Congenital Adreanl Hyperplasia between January 2006 and December 2019 at participating centres, but only patients diagnosed with Congenital Adreanl Hyperplasia are enrolled in the study.
The primary aims are: to assess the incidence of classic Congenital Adrenal Hyperplasia in neonates who underwent neonatal screening in the reporting period; to calculate the sensibility of Neonatal Screening for classic Congenital Adrenal Hyperplasia; to calculate the positive predictive rate. The secondary aims are: to describe the biochemical, hormonal, and clinical features of neonates at diagnosis of Congenital Adrenal Hyperplasia; to assess the time required for diagnosis; to calculate the false positive rate; to calculate the diagnostic impact of neonatal screening for Congenital Adrenal Hyperplasia.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- The study refers to neonates who underwent neonatal screening for Congenital Adreanl Hyperplasia between January 2006 and December 2019 at participating centres, but only patients diagnosed with Congenital Adreanl Hyperplasia are enrolled in the study.
Key inclusion criteria (3 listed)
- Neonatal who underwent neonatal screening for congenital adrenal hyperplasia between January 2006 and December 2019 at participating centres;
- Patients diagnosed with Congenital Adrenal Hyperplasia;
- Obtaining informed consent.
Key exclusion criteria (1 listed)
- None.
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
Incidence of classic Congenital Adrenal Hyperplasia in neonates who underwent neonatal screening in the reporting period
Time frame: at baseline
number of patients diagnosed with classic Congenital Adrenal Hyperplasia between January 2006 and December 2019
Sensibility of Neonatal Screening for classic Congenital Adrenal Hyperplasia
Time frame: at baseline
Sensibility of Neonatal Screening
Positive predictive rate
Time frame: at baseline
TP / (TP + FP)
8 secondary outcomes
Neonatal clinical features at diagnosis of Congenital Adrenal Hyperplasia
Time frame: at baseline
Neonatal clinical features at diagnosis of Congenital Adrenal Hyperplasia
Time frame: at baseline
Neonatal biochemical features at diagnosis of Congenital Adrenal Hyperplasia
Time frame: at baseline
Neonatal hormonal features at diagnosis of Congenital Adrenal Hyperplasia
Time frame: at baseline
Neonatal hormonal features at diagnosis of Congenital Adrenal Hyperplasia
Time frame: at baseline
Time required for diagnosis of Congenital Adrenal Hyperplasia
Time frame: at baseline
False positive rate
Time frame: at baseline
Diagnostic impact of neonatal screening for Congenital Adrenal Hyperplasia
Time frame: at baseline
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Mar 2026.
Related trials for Congenital Adrenal Hyperplasia
RecruitingPhase 2/3
A Study in Pediatric Participants With Congenital Adrenal Hyperplasia (Balance-CAH)
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RecruitingObservational study
Natural History Study of Patients With Excess Androgen
Congenital Adrenal Hyperplasia (CAH), Familial Male-Limited Precocious Puberty (FMPP)
RecruitingPhase 3
A Study to Evaluate Atumelnant in Adults With Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia, Classic Congenital Adrenal Hyperplasia
RecruitingObservational study
Adrenal Diseases in the Population of Modena: A Clinical-Epidemiological Database of Patients Referred to the Adrenal Disorders Outpatient Clinic of the Clinical Unit of Endocrinology at the Modena University Hospital (AOU Modena)
Cushing s Syndrome, Cushing Disease
RecruitingPhase 4
Isturisa Treatment in Mild Autonomous Cortisol Secretion( MACS)
Mild Autonomous Cortisol Secretion (MACS)
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. This study is not recruiting at the moment.
Federico Baronio, MD principal investigator
IRCCS Azienda Ospedaliero-Universitaria di Bologna
4 sites 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 4 sites 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 3 inclusion and 1 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: finished, as of the sponsor's last update on 12 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of classic Congenital Adrenal Hyperplasia in neonates who underwent neonatal screening in the reporting period (time frame: at baseline). The study lists 3 primary outcomes in all. 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 12 Mar 2026.