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DNA detective work: why some babies have lifelong thyroid problems

NCT ID NCT06728735

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 study
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
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 study is looking at the genes of 350 children born with permanent congenital hypothyroidism, even though their thyroid gland is in the right place. Researchers will use advanced genetic sequencing to find DNA changes that might explain the condition. The goal is to better understand the underlying causes, which could improve diagnosis and care in the future.

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 doctors better understand the genetic causes of congenital hypothyroidism, potentially leading to earlier diagnosis or personalized treatment in the future.
What could go wrong
This is an early, observational study that does not test any treatment. It only looks at genetic data, so it may not directly change patient care.

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

About 350 people

The number the study aims to enrol. It can still change while the study runs.

Started

Mar 2021

Expected to finish

Dec 2027

An estimate. End dates often move.

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

Patients born in Emilia-Romagna, Italy, between January 2003 and December 2023, recalled by the Regional Centre for Neonatal Screening for Endrocrine-Metabolic Diseases, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy, for suspected congenital hypothyroidism and diagnosed with congenital hypothyroidism and in situ thyroid.

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: * Patients born in Emilia-Romagna region, Italy, between January 2003 and December 2023; * Patients screened at the Regional Neonatal Screening Centre for Endrocrine-Metabolic Diseases, IRCCS Azienda Ospedaliero-Universitaria of Bologna, Italy, and recalled for suspected congenital hypothyroidism; * Confirmed diagnosis of congenital hypothyroidism and in situ thyroid; * Hormonal and clinical follow-up of at least 36 months at Centre for Endrocrine-Metabolic Diseases, IRCCS Azienda Ospedaliero-Universitaria of Bologna, Italy; * Obtaining informed consent from parents/legal guardians of paediatric patients. Exclusion Criteria: • Patients with hypothyroidism associated with chromosomal syndromes.

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Conditions

The condition(s) this trial relates to.

congenital hypothyroidism permanent congenital hypothyroidism

As listed by the trial registrant

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

Congenital hypothyroidism

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • IRCCS Azienda Ospedaliero-Universitaria di Bologna

    RECRUITING

    Bologna, Bologna, 40138, Italy

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