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Completed

NCT Number: NCT06728748

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

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

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Key information

Conditions

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

Age range

Up to 18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. 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

  2. Sensibility of Neonatal Screening for classic Congenital Adrenal Hyperplasia

    Time frame: at baseline

    Sensibility of Neonatal Screening

  3. Positive predictive rate

    Time frame: at baseline

    TP / (TP + FP)

Secondary outcomes

  1. Neonatal clinical features at diagnosis of Congenital Adrenal Hyperplasia

    Time frame: at baseline

    gestational age (weeks)

  2. Neonatal clinical features at diagnosis of Congenital Adrenal Hyperplasia

    Time frame: at baseline

    neonatal weight (g)

  3. Neonatal biochemical features at diagnosis of Congenital Adrenal Hyperplasia

    Time frame: at baseline

    serum electrolytes

  4. Neonatal hormonal features at diagnosis of Congenital Adrenal Hyperplasia

    Time frame: at baseline

    blood renin value (microU/mL)

  5. Neonatal hormonal features at diagnosis of Congenital Adrenal Hyperplasia

    Time frame: at baseline

    blood plasma values of 17α-hydroxyprogesterone (ng/dL)

  6. Time required for diagnosis of Congenital Adrenal Hyperplasia

    Time frame: at baseline

    Time required for diagnosis

  7. False positive rate

    Time frame: at baseline

    TP / (TP + FP)

  8. Diagnostic impact of neonatal screening for Congenital Adrenal Hyperplasia

    Time frame: at baseline

    ratio between the number of subjects with a suspected diagnosis and the number of subjects in whom the diagnosis was not suspected

Sponsors and collaborators

Lead sponsor

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Other

Registry information

Important dates

Study start
2020
Primary completion
2024
Study completion
2025
First posted
Dec 11, 2024
Registry last updated
Mar 12, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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