DNA detective work: why some babies have lifelong thyroid problems

NCT ID NCT06728735

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.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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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.

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • IRCCS Azienda Ospedaliero-Universitaria di Bologna

    RECRUITING

    Bologna, Bologna, 40138, Italy

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••