Study of the Thyroid Function and Echostructural Morphology in Patients Affected With Rasopathies. An Italian Multicenter Study
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- RASopathy
- Sponsor
- University of Bari Aldo Moro
- Enrollment
- 115
- Locations
- 1
- Primary Endpoint
- Number of patients with RASopathies presenting with thyroid function and ultrasound abnormalities compared to the general population (observational study)
- Status
- Recruiting
- Last Updated
- last year
Overview
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.
Investigators
Maria Felicia Faienza
Associate Professor of Pediatrics
University of Bari Aldo Moro
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
Outcomes
Primary Outcomes
Number of patients with RASopathies presenting with thyroid function and ultrasound abnormalities compared to the general population (observational study)
Time Frame: 6 months
Patients will undergo blood sampling for TSH, fT3, fT4, thyroid autoimmunity and a systematic color Doppler ultrasound examination of the thyroid gland. Setting a confidence level of 95% and a margin of error of 10%, the sample size is of 96 patients. The level of statistical significance will be α=0.05. Demographic, anthropometric and clinical data will be collected according to standard criteria for each center. Continuous variables will be reported as mean and standard deviation, or median and IQR, depending on their distribution. Categorical variables will be expressed as absolute and relative frequency (%). Parametric and non-parametric statistical tests will be performed depending on the variables and their distribution. Correlation analyses will be performed between the different variables.
Secondary Outcomes
- Number of patients with RASopathies presenting with bone disease(6 months)