Study of the Thyroid Function and Echostructural Morphology in Patients Affected With Rasopathies (ECORAS2023)
Study of the Thyroid Function and Echostructural Morphology in Patients Affected With Rasopathies. An Italian Multicenter Study
University of Bari Aldo Moro
115 participants
Jan 15, 2024
OBSERVATIONAL
Conditions
Summary
The study aims to evaluate the prevalence of thyroid disease, particularly with autoimmune pathogenesis (isolated hyperthyrotropinemia, hyperthyroidism, hypothyroidism, thyroid nodules) and/or morphostructural abnormalities of the thyroid gland in patients with RASopathy genetically confirmed by NGS technique (analysis of the genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2) and to compare the data obtained in our sample with those of the general population. The secondary aim of the study is to evaluate the association between vitamin D deficiency and/or other abnormalities of bone metabolism and thyroid disease and/or morphostructural anomalies of the thyroid gland in patients with RASopathy.
Eligibility
Inclusion Criteria2
- Genetically confirmed RASopathy
- Age 3-25 years
Exclusion Criteria5
- Previous radiotherapy treatments, known exposure to ionizing radiation
- Iodine deficiency
- Use of iodine-based compounds or drugs that interfere with thyroid function
- Congenital hypothyroidism/hyperthyroidism
- Severe obesity with metabolic complications
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Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT06489067