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

Recruiting

• Conditions: Congenital Adrenal Hyperplasia

• Registration Number: NCT06728748
• Lead Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna

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.

Study Timeline

• Study Start: 2020-10-23
• Status Verified: 2024-10
• Study First Submitted: 2024-12-03
• Study First Submitted QC: 2024-12-06
• Last Update Submitted: 2024-12-06
• Study First Posted: 2024-12-11
• Last Update Posted: 2024-12-11
• Primary Completion: 2024-12-31
• Study Completion: 2024-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 160

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
Neonatal clinical features at diagnosis of Congenital Adrenal Hyperplasia	at baseline	neonatal weight (g)
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 plasma values of 17α-hydroxyprogesterone (ng/dL)
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

Trial Locations

Locations (4)

IRCCS Azienda Ospedaliero-Universitaria di Bologna; 🇮🇹 Bologna, Italy

IRCCS Ospedale San Raffaele; 🇮🇹 Milano, Italy

Azienda Ospedaliera Città della Salute e della Scienza di Torino; 🇮🇹 Torino, Italy

Azienda Ospedaliera Universitaria Integrata Verona: 🇮🇹 Verona, Italy