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

NCT06728748 | Completed

• 1 other identifier: ISCREEN
• Study Type: observational
• Target: 29
• Locations: 1 country
• Sites: 4

Brief Summary

Oservational, retrospective, multicenter study focused on neonatal screening for Congenital Adreanl Hyperplasia.

Conditions

Congenital Adrenal Hyperplasia

Keywords

Congenital Adrenal Hyperplasia

Outcome Measures

Primary Outcomes (3)

• 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

  at baseline

• Sensibility of Neonatal Screening for classic Congenital Adrenal Hyperplasia

  Sensibility of Neonatal Screening

  at baseline

• Positive predictive rate

  TP / (TP + FP)

  at baseline

Secondary Outcomes (8)

• Neonatal clinical features at diagnosis of Congenital Adrenal Hyperplasia

  at baseline

• Neonatal clinical features at diagnosis of Congenital Adrenal Hyperplasia

  at baseline

• Neonatal biochemical features at diagnosis of Congenital Adrenal Hyperplasia

  at baseline

• Neonatal hormonal features at diagnosis of Congenital Adrenal Hyperplasia

  at baseline

• Neonatal hormonal features at diagnosis of Congenital Adrenal Hyperplasia

  at baseline

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• None.

Sponsors & Collaborators

• IRCCS Azienda Ospedaliero-Universitaria di Bologna: lead

Study Sites (4)

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, Bologna, 40138, Italy

Location

IRCCS Ospedale San Raffaele

Milan, Milano, 20132, Italy

Location

Azienda Ospedaliera Città della Salute e della Scienza di Torino

Torino, Torino, 10123, Italy

Location

Azienda Ospedaliera Universitaria Integrata Verona:

Verona, Verona, 37126, Italy

Location

MeSH Terms

Conditions

Adrenal Hyperplasia, Congenital

Condition Hierarchy (Ancestors)

Adrenogenital Syndrome; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Steroid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Adrenal Gland Diseases; Endocrine System Diseases; Gonadal Disorders

Study Officials

• Federico Baronio, MD

  IRCCS Azienda Ospedaliero-Universitaria di Bologna

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD

Study Record Dates

• First Submitted: December 3, 2024
• First Posted: December 11, 2024
• Study Start: October 23, 2020
• Primary Completion: December 31, 2024
• Study Completion: September 15, 2025
• Last Updated: March 12, 2026

Record last verified: 2025-11

Locations

IT (4)