Understanding the Subnormal Rescue ofNeurological Development in Congenital Hypothyroidism (2022E5SZEM)
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- Who runs it
- Istituto Giannina Gaslini
- Trial code
- NCT07893522
- Record updated
- 26 October 2026
- Original description
Congenital hypothyroidism (CH) is a condition present at birth in which the thyroid gland does not produce enough thyroid hormones. These hormones are essential for normal brain development. Although early diagnosis through newborn screening and treatment with thyroid hormone help prevent serious learning difficulties, some children with CH may still experience difficulties with thinking, learning, or development.Read full original descriptionShow less
Understanding the Subnormal Rescue ofNeurological Development in Congenital Hypothyroidism (Comprendere le Ragioni Dell'Incompleta Correzione Dei Difetti Dello Sviluppo Neurologico Nell'Ipotiroidismo Congenito)
Congenital hypothyroidism (CH) is a condition present at birth in which the thyroid gland does not produce enough thyroid hormones. These hormones are essential for normal brain development. Although early diagnosis through newborn screening and treatment with thyroid hormone help prevent serious learning difficulties, some children with CH may still experience difficulties with thinking, learning, or development.
This study aims to understand why some children with CH do not achieve the expected level of neurological and cognitive development despite early treatment. The researchers will study 39 patients with CH and compare them with 39 similar individuals without the condition. They will also study 50 children with mild neonatal hyperthyrotropinemia (MNH), a condition involving mildly elevated thyroid-stimulating hormone levels, and compare them with 50 children without the condition.
The study will assess medical information, growth measurements, and cognitive test results. Genetic testing will be used to identify changes in genes that may affect thyroid function or brain development. The researchers will also examine chemical changes that regulate how genes work, known as epigenetic changes, and analyze blood samples to identify differences in substances involved in the body's metabolism.
By combining these findings, the study aims to identify factors associated with less favorable developmental outcomes and potential markers that may help identify children at risk. The results may improve understanding of congenital thyroid disorders and support earlier recognition of children who may need additional assessment or individualized care.
Inclusion: Adults and minors with congenital hypothyroidism (CH); Family members of patients with CH; Healthy controls without thyroid-related conditions or other conditions that could interfere with the study.
Exclusion: Intercurrent conditions or severe comorbidities that could interfere with study procedures; Refusal to provide informed consent to participate in the study.