Gene hunt aims to unlock mysteries of thyroid disorder in newborns

NCT ID NCT01916018

Completed Knowledge-focused Sponsor: Assistance Publique - Hôpitaux de Paris Source: ClinicalTrials.gov ↗

First seen Jun 24, 2026 · Last updated Jun 26, 2026 · Updated 1 time

Summary

This study looked at 558 people with congenital hypothyroidism, a rare thyroid condition found in newborns. Researchers examined their genes, medical images, and health records to find links between genetic changes and the type or severity of the disease. The goal is to improve early care and help families understand the risk of recurrence.

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 research could help doctors better predict the cause of congenital hypothyroidism and identify related health issues early.
What could go wrong: This is an observational study, not a treatment trial. It may not directly change care, and genetic findings may not apply to all patients.

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

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Conditions

The condition(s) this trial relates to.

congenital hypothyroidism intellectual disability learning disability Thyroid Dysgenesis

As listed by the trial registrant

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

CONGENITAL HYPOTHYROIDISM

Contacts and locations

Locations

Pediatric endocrinology gynecology and diabetology, Hôpital Necker Enfants Malades, Assistance Publique - Hôpitaux de Paris , Université Paris Descartes, INSERM unit U 845

Paris, 75015, France

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