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Understanding, Diagnosis and Monitoring of Thyroid Hormone Action Defects
Sponsor: Istituto Auxologico Italiano
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.
Official title: Advancing Understanding, Diagnosis and Monitoring of Thyroid Hormone Action Defects (ADAM-THAD)
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
150
Start Date
2023-01-01
Completion Date
2026-01-31
Last Updated
2025-09-02
Healthy Volunteers
Yes
Conditions
Interventions
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
serological tests
assessment of T4, T3 and other TH metabolites (LC-MS) in serum and dried blood spots
Locations (2)
Istituto Auxologico Italiano IRCCS
Milan, Italy
Department of Endocrine & Metabolic Diseases, San Luca Hospital
Milan, Italy