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Gene hunt aims to unlock mysteries of thyroid disorder in newborns

NCT ID NCT01916018

Knowledge-focused Sponsor: Assistance Publique - Hôpitaux de Paris 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 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.

Study facts

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

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

558 people

The number who actually took part.

Started

Sep 2013

Finished

Mar 2017

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.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

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: \- Patient: newborn (0-27 days) or infant (28 days 23 months), or child or adult with congenital hypothyroidism (that is to say with a TSH \> 15 mU / ml at screening on filter paper and / or plasma TSH\> 10 mU / ml) diagnosed in the first months of life, whatever their age, sex, weight and size. Subjects with blood levels of free thyroid hormones (FT3 and FT4) in the standards will be described as having subclinical hypothyroidism. If treatment with L-thyroxine could be stopped without relapse (that is to say, always with a TSH \<5 mU / ml with different controls), hypothyroidism is said to be transient, whatever the age of discontinuation of treatment. * No pre or neonatal goitre by palpation or ultrasound thyroid * negative perchlorate test (ie decreased rate of iodine captation \<10% at 2h injection of perchlorate) when the thyroid gland in place * No self-immunity known to thyroid in children with and / or his mother (defined by a antithyroperoxidase antibodies and / or antithyroglobulin) * Signature of free and informed consent by the patient or his legal representative * Affiliation or enjoying a social security system Exclusion Criteria: * Presence of markers antithyroid autoimmunity in children and / or mother (antithyroperoxidase antibodies and / or antithyroglobulin) * Pre or neonatal goiter on palpation or ultrasound thyroid * Test positive perchlorate (ie salting rate of iodine\> 10% at 2 injection perchlorate) * Patients of foreign origin returned to their country will be excluded from the study.

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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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