Deep Geno- and Phenotyping of Patients With Thyroid Hormone Resistance, a Register Study

What this Trial Is About

Researchers are investigating thyroid hormone resistance caused by mutations in the thyroid hormone transporter (MCT8) or the thyroid hormone receptor alpha (THRα), conditions that affect brain development and function. These mutations can lead to severe intellectual disabilities, developmental delays, and movement disorders despite normal thyroid hormone production. The study aims to improve diagnosis by using the serum free T3/free T4 ratio as a screening tool and to explore genetic regulation and mutations contributing to thyroid hormone resistance. This observational registry study, called "DEEPTYPE," collects detailed retrospective and prospective clinical data from patients with coding or non-coding mutations in the SLC16A2 or THRA genes. The registry identifies patients with milder symptoms or non-coding mutations and groups patients based on their genetic profiles. There is no intervention or treatment involved; the study focuses on documenting and understanding the full spectrum of these conditions. Participants will have their neurological development, motor skills, and body measurements tracked over a period of five years. Researchers will assess various clinical and biochemical markers, including thyroid hormone levels, response to therapies, cerebrospinal fluid components, and movement disorder evaluations. This comprehensive monitoring aims to characterize the clinical features and progression of thyroid hormone resistance, supporting future clinical trial readiness and improved patient care.

Register for Patients With Thyroid Hormone Resistance.