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New study aims to unlock mysteries of rare thyroid condition

NCT ID NCT06307990

Knowledge-focused Sponsor: Istituto Auxologico Italiano 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 26, 2026 · Last updated Jun 26, 2026

Summary

This observational study will enroll 150 people to better understand thyroid hormone resistance syndromes, rare conditions where the body does not respond properly to thyroid hormone. Researchers will use genetic testing, blood analysis, and lab-grown cells to find better ways to diagnose and monitor these syndromes. The study does not test any new treatment.

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 study could improve early diagnosis and monitoring tools for rare thyroid hormone resistance syndromes.
What could go wrong
This is an observational study, not a treatment trial. It will not directly benefit participants and may not lead to new therapies.

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 150 people

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

Started

Jan 2023

Expected to finish

Jan 2026

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

Newborn patients (a) with normal TSH, but T3 and other TH metabolites suggestive of RTH syndromes, we will be submitted to genetic analysis Cohorts of patients (b) with unexplained: i) mental retardation and delayed development or epilepsy (ii) autism spectrum disorders (iii) growth maturation defects (iv) early onset cardiovascular diseases (v) with inappropriate tachycardia (vi) with ADHD or learning disorders (vii) early onset tachyarrhythmias, will be submitted to genetic analysis Patients with RTH syndromes already diagnosed and followed in the collaborating centers

Ages

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

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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: \- biochemical signature suggestive of RTHs syndromes at birth (a) or symptoms suggestive of RTHs syndromes (b) or known diagnosis of RTHs syndromes (c) Exclusion Criteria: * none

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Conditions

The condition(s) this trial relates to.

generalized resistance to thyroid hormone resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta thyroid hormone resistance syndrome thyroid hormone resistance, generalized, autosomal dominant

As listed by the trial registrant

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

Resistance, thyroid hormone

How to take part

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

  1. The places running it

    2 sites. 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

  • Department of Endocrine & Metabolic Diseases, San Luca Hospital

    RECRUITING

    Milan, Italy

  • Istituto Auxologico Italiano IRCCS

    RECRUITING

    Milan, 20145, Italy