Description Module
The Description Module contains narrative descriptions of the clinical trial, including a brief summary and detailed description. These descriptions provide important information about the study's purpose, methodology, and key details in language accessible to both researchers and the general public.
Description Module path is as follows:
Study -> Protocol Section -> Description Module
Description Module
Ignite Creation Date:
2025-12-25 @ 12:43 AM
Ignite Modification Date:
2025-12-25 @ 12:43 AM
NCT ID:
NCT06489067
Brief 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.
Detailed Description:
All patients will undergo blood sampling aimed at studying thyroid function and autoimmunity (TSH, fT3, fT4, anti-TPO, anti-TG, anti-TSH receptor antibodies) and biomarkers of bone metabolism (calcium, phosphorus, ALP isoenzyme bone, PTH, osteocalcin, vitamin D) and a systematic color Doppler ultrasound examination of the thyroid gland in order to evaluate dimensions, echostructure and echogenicity of the thyroid parenchyma, presence of nodular lesions, vascularization and laterocervical lymphadenopathy.
Study:
NCT06489067
Study Brief:
Protocol Section:
NCT06489067