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NCT06307990: ADAM-THAD
Understanding, Diagnosis and Monitoring of Thyroid Hormone Action Defects
trial testing NGS sequencing in Resistance, Thyroid Hormone in 150 participants. Currently enrolling.
31 October 2025
Quick facts
| Lead sponsor | Istituto Auxologico Italiano |
|---|---|
| Status | Recruiting now |
| Study type | OBSERVATIONAL |
| Enrollment | 150 |
| Start date | 1 January 2023 |
| Primary completion | 31 October 2025 |
| Estimated completion | 31 January 2026 |
| Sites | 2 locations across Italy |
Drugs / interventions tested
- NGS sequencing
- serological tests
Conditions studied
- Resistance, Thyroid Hormone — all drugs for Resistance, Thyroid Hormone →
Sponsor
Istituto Auxologico Italiano — full company profile →
Who can join
Eligibility, any sex, with Resistance, Thyroid Hormone. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
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.
Publications & conference data
No peer-reviewed publications indexed yet for this trial.
Verify or expand the search:
- PubMed search for NCT06307990
- Europe PMC full search
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- ESMO Meeting Library
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Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT06307990 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by Istituto Auxologico Italiano
- Last refreshed: 2 September 2025
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT06307990.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing