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Understanding, Diagnosis and Monitoring of Thyroid Hormone Action Defects

NCT06307990 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 150

Last updated 2025-09-02

No results posted yet for this study

Summary

The goal of this observational study is to learn about the neurological and cardiological phenotype of patients with resistance to thyroid hormone (RTH) syndromes beta and alpha (RTHß and RTHa) due to dominant negative variants in the genes encoding the thyroid hormone receptors alpha (THRA) and beta (THRB).

The main question\[s\] it aims to answer are:

* Define frequency and improve early diagnosis for RTH syndromes
* Developing tools to accelerate diagnosis of RTH syndromes
* Development and validation of monitoring tools

Participants, recruited at neonatal screening or from cohorts of patients with unexplained specific neuro-cognitive or cardiovascular phenotypes will be submitted to biochemical and genetic investigations. In addition pluripotent stem cells will be generated from peripheral blood cells of RTHs patients and studied in vitro to understand the molecular mechanisms underlying neurological and cardiovascular consequences. In vitro and clinical data, will be correlated to identify biomarkers for monitoring treatment.

Conditions

  • Resistance, Thyroid Hormone

Interventions

GENETIC

NGS sequencing

analysis of candidate genes for RTHs syndromes, transporters defects or gene involved in thyroid hormone metabolism. Whole exome sequencing (WES) in a minority of cases

DIAGNOSTIC_TEST

serological tests

assessment of T4, T3 and other TH metabolites (LC-MS) in serum and dried blood spots

Sponsors & Collaborators

  • ASST Fatebenefratelli Sacco

    collaborator OTHER

  • Federico II University

    collaborator OTHER

  • Istituto Auxologico Italiano

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2023-01-01
Primary Completion
2025-10-31
Completion
2026-01-31

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06307990 on ClinicalTrials.gov