Registry for patients with thyroid hormone resistance

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 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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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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.