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Register for Patients With Thyroid Hormone Resistance.

Recruitingn/aAges any - anyAllCharite University, Berlin, Germany
NCT06566066 on ClinicalTrials.gov โ†—
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In plain words

What the trial is, and whether it could suit you

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 local thyroid hormone receptor (collectively referred to as thyroid hormone resistance) subsequently experience psychomotor disabilities. The "DEEPTYPE" registry has been established with the objective of intensifying the genotyping and, in particular, the neurological phenotyping of patients exhibiting deficiencies in either the thyroid hormone transporter (MCT8) or the thyroid hormone receptor alpha (THRฮฑ). The objective of this registry-based study is to enhance the diagnostic yield for MCT8 and THRฮฑ deficiencies by employing the serum fT3/fT4 ratio as a more sophisticated screening parameter. Furthermore, the investigators will study the genomic regulation of both genes and attempt to iden

Sign in to get the eligibility rules as simple questions to take to your doctor.

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๐Ÿ“‹ Eligibility rules (as published)
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
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What it tests

  • no intervention
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Where

1 site
Charite - Universitaetsmedizin Berlin
Berlin, Germany
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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