Mutations in thyroid hormone receptor alpha 2

• Conditions: 10043739; 10014699; thyroid hormone receptor mutation; mutation in the binder of thyroid hormone

• Registration Number: NL-OMON39713
• Lead Sponsor: Erasmus MC, Universitair Medisch Centrum Rotterdam

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 29 April 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 25

Inclusion Criteria

All familiy members of patient with the TRa2 mutation will be tested.

Exclusion Criteria

na

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The main parameters are (a) serum hormone and metabolite levels and (b) gene<br /><br>expression differences in skin fibroblasts and PBMCs from WT and mutant<br /><br>subjects. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>na</p><br>