Registry for patients with thyroid hormone resistance
Deep Geno- and Phenotyping of Patients With Thyroid Hormone Resistance, a Register Study.
This study is collecting information from patients with thyroid hormone resistance to see how their specific gene mutations affect their health and improve diagnosis and treatment.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Sex | All |
| Sponsor | Charite University, Berlin, Germany Academic / other |
| Locations | 1 site (Berlin) |
| Trial ID | NCT06566066 on ClinicalTrials.gov |
What this trial studies
This registry aims to enhance the understanding of thyroid hormone resistance by collecting data on patients with mutations in the SLC16A2 and THRA genes. It focuses on improving diagnostic methods through the analysis of serum fT3/fT4 ratios and exploring the genomic regulation of these genes. The study will also investigate the phenotypic spectrum of patients affected by these conditions, which can lead to severe developmental and intellectual disabilities. By gathering comprehensive genetic and clinical information, the registry seeks to facilitate better diagnosis and management of affected individuals.
Who should consider this trial
Good fit: Ideal candidates include individuals with identified mutations in SLC16A2 or THRA and abnormal serum fT3/fT4 ratios.
Not a fit: Patients who have corrected or changed their molecular diagnosis or who withdraw consent will not benefit from this study.
Why it matters
Potential benefit: If successful, this registry could lead to improved diagnostic accuracy and better management strategies for patients with thyroid hormone resistance.
How similar studies have performed: While there is ongoing research in the field of thyroid hormone resistance, this specific registry approach is novel and aims to fill gaps in understanding the full spectrum of these conditions.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Presence of a coding or non-coding mutation in SLC16A2 * Presence of a coding or non-coding mutation in THRA * Abnormal fT3/fT4 ratio in the serum * Written informed consent of the caregivers for participation in the register study Exclusion Criteria: * Withdrawal of consent * Correction/change of the molecular diagnosis
Where this trial is running
Berlin
- Charite - Universitaetsmedizin Berlin — Berlin, Germany (Recruiting)
Study contacts
- Principal investigator: Heiko Krude, MD — Charite University, Berlin, Germany
- Study coordinator: Nina-Maria Wilpert
- Email: nina-maria.wilpert@charite.de
- Phone: +49 30 450
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.