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Register for Patients With Thyroid Hormone Resistance.

NCT06566066 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2024-08-22

No results posted yet for this study

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 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.

Conditions

  • Hypothyroidism
  • Global Developmental Delay
  • Intellectual Disability
  • Dystonia
  • Muscle Hypotonia
  • Seizures
  • Allan-Herndon-Dudley Syndrome
  • Microcephalus

Interventions

OTHER

no intervention

register study without intervention

Sponsors & Collaborators

  • Charite University, Berlin, Germany

    lead OTHER

Principal Investigators

  • Heiko Krude, MD · Charite University, Berlin, Germany

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-07-01
Primary Completion
2029-07-14
Completion
2029-07-31

Countries

  • Germany

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06566066 on ClinicalTrials.gov