Clinical trial NCT06728748: Retrospective Multicentre Study on the Impact of Neonatal Screening for Congenital Adrenal Hyperplasia in Italy
Official title: Retrospective Multicentre Study on the Impact of Neonatal Screening for Congenital Adrenal Hyperplasia in Italy
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Congenital Adrenal Hyperplasia
Keywords: Congenital Adrenal Hyperplasia
Lead sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna
Sponsor class: OTHER
First posted: 2024-12-11
Enrollment: 160
Sex: ALL
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Incidence of classic Congenital Adrenal Hyperplasia in neonates who underwent neonatal screening in the reporting period
timeFrame: at baseline
measure: Sensibility of Neonatal Screening for classic Congenital Adrenal Hyperplasia
timeFrame: at baseline
measure: Positive predictive rate
timeFrame: at baseline
Secondary outcomes:
measure: Neonatal clinical features at diagnosis of Congenital Adrenal Hyperplasia
timeFrame: at baseline
measure: Neonatal clinical features at diagnosis of Congenital Adrenal Hyperplasia
timeFrame: at baseline
measure: Neonatal biochemical features at diagnosis of Congenital Adrenal Hyperplasia
timeFrame: at baseline
measure: Neonatal hormonal features at diagnosis of Congenital Adrenal Hyperplasia
timeFrame: at baseline
measure: Neonatal hormonal features at diagnosis of Congenital Adrenal Hyperplasia
timeFrame: at baseline
measure: Time required for diagnosis of Congenital Adrenal Hyperplasia
timeFrame: at baseline
measure: False positive rate
timeFrame: at baseline
measure: Diagnostic impact of neonatal screening for Congenital Adrenal Hyperplasia
timeFrame: at baseline
Other outcomes:
Locations:
city: Bologna
country: Italy
facility: IRCCS Azienda Ospedaliero-Universitaria di Bologna
city: Milano
country: Italy
facility: IRCCS Ospedale San Raffaele
city: Torino
country: Italy
facility: Azienda Ospedaliera Città della Salute e della Scienza di Torino
city: Verona
country: Italy
facility: Azienda Ospedaliera Universitaria Integrata Verona:
Study officials:
affiliation: IRCCS Azienda Ospedaliero-Universitaria di Bologna
name: Federico Baronio, MD
role: PRINCIPAL_INVESTIGATOR
References: