An observational study in Congenital Hypothyroidism and Neurodevelopmental Disorders, sponsored by Istituto Giannina Gaslini. Recruiting at 3 sites in Italy. Open to participants aged 28 Days and older. Per ClinicalTrials.gov, last updated 2026-10-26.
Sponsored by Istituto Giannina Gaslini · Observational
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.
27 studies on the registry are indexed under Congenital Hypothyroidism; 10 are open to participants now.
This study's planned enrollment of 178 is below the median of 239 across 14 observational studies indexed under Congenital Hypothyroidism.
Browse Congenital Hypothyroidism studies →Istituto Giannina Gaslini is the lead sponsor of 51 studies on the registry; 34 are open to participants now.
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The study population will include adults and children with congenital hypothyroidism (CH), children with mild neonatal hyperthyrotropinemia (MNH), family members of patients with CH, and healthy control participants without thyroid-related conditions or other conditions that could interfere with study procedures.
The study will include 39 patients with CH and 39 age- and sex-matched controls, as well as 50 children with MNH and 50 control participants. Participants will undergo clinical and biochemical data collection and metabolomic analyses. Genetic and epigenetic analyses will be performed in patients with CH and MNH, while epigenetic and metabolomic analyses will be performed in the corresponding control groups.
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Exclusion Criteria:
Genetic mechanisms associated with neurological and cognitive outcomes in patients with congenital hypothyroidism
Genetic alterations identified through targeted next-generation sequencing (NGS) gene panel analysis or whole-exome sequencing (WES) in selected patients with congenital hypothyroidism (CH), and their association with neurological and cognitive outcomes.
Time frame: At baseline
Association of epigenetic and metabolomic profiles with neurological and cognitive outcomes
Association between DNA methylation patterns, circulating metabolic markers, and neurological and cognitive outcomes in patients with congenital hypothyroidism (CH) and mild neonatal hyperthyrotropinemia (MNH), compared with control groups.
Time frame: At baseline; additional biological samples may be collected during the study, if required for validation of epigenetic findings
Plan to share: No
No publications or documents are linked to this record.
Ran from Jun 2024 to primary completion in Dec 2025, 17 months.
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From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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Istituto Giannina Gaslini