Understanding thyroid hormone action defects

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to investigate the neurological and cardiological features of patients with resistance to thyroid hormone syndromes, specifically focusing on the genetic variants affecting thyroid hormone receptors. It seeks to define the frequency of these syndromes, improve early diagnosis, and develop monitoring tools through biochemical and genetic investigations. Participants will include newborns and patients with unexplained neuro-cognitive or cardiovascular symptoms, and pluripotent stem cells will be generated for in vitro studies to explore the underlying molecular mechanisms. The study will correlate clinical data with laboratory findings to enhance understanding of these rare conditions.

Why it matters

Who can join: the full rules

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

Where it's running

• Istituto Auxologico Italiano IRCCS
  Milan, Italy Recruiting
• Department of Endocrine & Metabolic Diseases, San Luca Hospital
  Milan, Italy Recruiting

Study contacts

• Study coordinator: Luca Persani, Prof
• Email: luca.persani@unimi.it
• Phone: 02619112738

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.