Understanding thyroid hormone action defects
Advancing Understanding, Diagnosis and Monitoring of Thyroid Hormone Action Defects (ADAM-THAD)
Istituto Auxologico Italiano · NCT06307990
This study is trying to learn more about how thyroid hormone problems affect the brain and heart in newborns and patients with unexplained symptoms, to help with early diagnosis and better monitoring.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 150 (estimated) |
| Sex | All |
| Sponsor | Istituto Auxologico Italiano (other) |
| Locations | 2 sites (Milan and 1 other locations) |
| Trial ID | NCT06307990 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include newborns with biochemical signatures suggestive of thyroid hormone resistance or individuals with known diagnoses of these syndromes.
Not a fit: Patients without biochemical or symptomatic evidence of thyroid hormone resistance will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to earlier diagnosis and better management of thyroid hormone resistance syndromes, potentially reducing adverse health outcomes.
How similar studies have performed: While there have been studies on thyroid hormone action defects, this approach focusing on early diagnosis and monitoring tools is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Milan and 1 other locations
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Resistance, Thyroid Hormone