Effect of treatment with levothyroxine in a patient with thyroid hormone receptor *1 deficiency

Completed

• Conditions: Thyroid hormone receptor alpha 1 deficiency; 10014699; 10043739

• Registration Number: NL-OMON42720
• Lead Sponsor: Academisch Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 23 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 12

Inclusion Criteria

For patient:
- Known carrier of inactivating thyroid hormone receptor alpha1 mutation
- Aged *18
- Willing and able to provide signed informed consent prior to study-related procedures.;For healthy controls:
- Aged *18
- Willing and able to provide signed informed consent prior to study-related procedures.

Exclusion Criteria

Healthy controls:
- Fever or other symptoms of infection during the past 7 days.
- Use of medication that could affect haematological parameters or leukocyte function as specified by the Farmacotherapeutisch Kompas (http://www.fk.cvz.nl)

Study & Design

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

Primary Outcome Measures

Name	Time	Method
<p>Main study parameters/endpoints:<br /><br>* Neutrophil and macrophage function prior to and following levothyroxine<br /><br>treatment<br /><br>* Erythropoiesis function<br /><br>* Thyroid hormone target gene expression levels prior to and following<br /><br>levothyroxine treatment<br /><br>* Plasma metabolome prior to and following levothyroxine treatment</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>n.a.</p><br>