Status Unknown
Study of the Thyroid Function and Echostructural Morphology in Patients Affected With Rasopathies. An Italian Multicenter Study
Led by University of Bari Aldo Moro · Updated on 2024-07-05
115
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Brief Title
Study of the Thyroid Function and Echostructural Morphology in Patients Affected With Rasopathies (ECORAS2023)
Who Can Participate
Eligibility Criteria
Inclusion Criteria:
- Genetically confirmed RASopathy
- Age 3-25 years
Exclusion Criteria:
- 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
Research Team
M
Maria Felicia Faienza
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