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Italian study checks how well newborn screening detects rare hormone disorder

NCT ID NCT06728748

Knowledge-focused Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This completed study looked at newborn screening for congenital adrenal hyperplasia (CAH) in Italy. Researchers reviewed medical records of 29 infants diagnosed with classic CAH between 2006 and 2019 to see how accurate the screening was. The goal was to measure the screening's sensitivity and positive predictive value, and to describe the babies' health at diagnosis.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this could help improve newborn screening programs for congenital adrenal hyperplasia, leading to earlier diagnosis and better outcomes.
What could go wrong
This is a small, retrospective study with only 29 participants, so results may not apply to larger or different populations. It does not test a new treatment.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

29 people

The number who actually took part.

Started

Oct 2020

Finished

Sep 2025

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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.

Ages

Up to 18 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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Conditions

The condition(s) this trial relates to.

congenital adrenal hyperplasia

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Congenital adrenal hyperplasia

Contacts and locations

Locations

  • Azienda Ospedaliera Città della Salute e della Scienza di Torino

    Torino, Torino, 10123, Italy

  • Azienda Ospedaliera Universitaria Integrata Verona:

    Verona, Verona, 37126, Italy

  • IRCCS Azienda Ospedaliero-Universitaria di Bologna

    Bologna, Bologna, 40138, Italy

  • IRCCS Ospedale San Raffaele

    Milan, Milano, 20132, Italy

More trials for these conditions

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