Retrospective Multicentre Study on the Impact of Neonatal Screening for Congenital Adrenal Hyperplasia in Italy

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06728748

Enrollment

Registered

2024-12-11

Start date

2020-10-23

Completion date

2025-09-15

Last updated

2026-03-12

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Congenital Adrenal Hyperplasia

Keywords

Congenital Adrenal Hyperplasia

Brief summary

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

No minimum to 18 Years

Healthy volunteers

Inclusion criteria

* 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.

Exclusion criteria

• None.

Design outcomes

Primary

Measure	Time frame	Description
Incidence of classic Congenital Adrenal Hyperplasia in neonates who underwent neonatal screening in the reporting period	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	at baseline	Sensibility of Neonatal Screening
Positive predictive rate	at baseline	TP / (TP + FP)

Secondary

Measure	Time frame	Description
Neonatal clinical features at diagnosis of Congenital Adrenal Hyperplasia	at baseline	gestational age (weeks)
Neonatal biochemical features at diagnosis of Congenital Adrenal Hyperplasia	at baseline	serum electrolytes
Neonatal hormonal features at diagnosis of Congenital Adrenal Hyperplasia	at baseline	blood renin value (microU/mL)
Time required for diagnosis of Congenital Adrenal Hyperplasia	at baseline	Time required for diagnosis
False positive rate	at baseline	TP / (TP + FP)
Diagnostic impact of neonatal screening for Congenital Adrenal Hyperplasia	at baseline	ratio between the number of subjects with a suspected diagnosis and the number of subjects in whom the diagnosis was not suspected

Countries

Italy

Contacts

PRINCIPAL_INVESTIGATORFederico Baronio, MD

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Outcome results