Understanding, Diagnosis and Monitoring of Thyroid Hormone Action Defects
Recruiting
Observational Study
Resistance, Thyroid Hormone
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
Healthy Volunteers Welcome
You do not need to have the condition being studied to take part.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 150 (estimated)
- Sponsor
- Istituto Auxologico Italiano · Other
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About This Trial
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 diagn…
Trial Locations
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Eligibility Criteria
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
Contacts