Actively Recruiting
Understanding, Diagnosis and Monitoring of Thyroid Hormone Action Defects
Led by Istituto Auxologico Italiano · Updated on 2025-09-02
150
Participants Needed
2
Research Sites
160 weeks
Total Duration
On this page
Sponsors
I
Istituto Auxologico Italiano
Lead Sponsor
A
ASST Fatebenefratelli Sacco
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
Official Title
Understanding, Diagnosis and Monitoring of Thyroid Hormone Action Defects
Who Can Participate
Eligibility Criteria
You may qualify if you...
- biochemical signature suggestive of RTHs syndromes at birth (a) or symptoms suggestive of RTHs syndromes (b) or known diagnosis of RTHs syndromes (c)
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
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Trial Site Locations
Total: 2 locations
1
Istituto Auxologico Italiano IRCCS
Milan, Italy, 20145
Actively Recruiting
2
Department of Endocrine & Metabolic Diseases, San Luca Hospital
Milan, Italy
Actively Recruiting
Research Team
L
Luca Persani, Prof
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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