Status:
RECRUITING
Register for Patients With Thyroid Hormone Resistance.
Lead Sponsor:
Charite University, Berlin, Germany
Conditions:
Hypothyroidism
Global Developmental Delay
Eligibility:
All Genders
Brief Summary
Thyroid hormones (TH) play a pivotal role in the development and function of the mammalian brain. Patients with impaired thyroid hormone transport into the brain tissue or in the case of defective loc...
Detailed Description
Thyroid hormones (TH) are of vital importance in the development and functioning of the brain. A deficiency in fetal thyroid hormone (TH) supply has been linked to significant psychomotor retardation ...
Eligibility Criteria
Inclusion
- 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
- Withdrawal of consent
- Correction/change of the molecular diagnosis
Key Trial Info
Start Date :
July 1 2021
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
July 31 2029
Estimated Enrollment :
200 Patients enrolled
Trial Details
Trial ID
NCT06566066
Start Date
July 1 2021
End Date
July 31 2029
Last Update
August 22 2024
Active Locations (1)
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1
Charite - Universitaetsmedizin Berlin
Berlin, Germany, 13353