Register for Patients With Thyroid Hormone Resistance.
Recruiting now
Conditions studied: Hypothyroidism, Global Developmental Delay, Intellectual Disability, Dystonia, Muscle Hypotonia, Seizures, Allan-Herndon-Dudley Syndrome, Microcephalus
In brief
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 (THRα). The objective of this registry-based study is to enhance the diagnostic yield for MCT8 and THRα 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 identify further coding and non-coding mutations that result in TH resistance. The patient registry "DEEPTYPE" will document the retrospective and prospective clinical data of identified children in a comprehensive manner. This will enable the identification of three key groups: (i) patients with non-coding mutations, (ii) patients with milder phenotypes presenting only with a subset of symptoms seen in both "classic" conditions, and (iii) patients who are ready for clinical trials.
Key facts
- Study ID
- NCT06566066
- Run by
- Charite University, Berlin, Germany
- People needed
- 200
- Starts
- 2021-07-01
- Expected to finish
- 2029-07-31
- Last updated by the study team
- 2024-08-22
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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
You may not qualify if…
- Withdrawal of consent
- Correction/change of the molecular diagnosis
Where it is running
- Charite - Universitaetsmedizin Berlin — Berlin, Germany (enrolling)
Full record on ClinicalTrials.gov
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