Study of the Thyroid Function and Echostructural Morphology in Patients Affected With Rasopathies. An Italian Multicenter Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 115
- 试验地点
- 1
- 主要终点
- Number of patients with RASopathies presenting with thyroid function and ultrasound abnormalities compared to the general population (observational study)
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Other
入排标准
- 年龄范围
- 3 Years 至 25 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Genetically confirmed RASopathy
- •Age 3-25 years
排除标准
- •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
结局指标
主要结局
Number of patients with RASopathies presenting with thyroid function and ultrasound abnormalities compared to the general population (observational study)
时间窗: 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.
次要结局
- Number of patients with RASopathies presenting with bone disease(6 months)
研究者
Maria Felicia Faienza
Associate Professor of Pediatrics
University of Bari Aldo Moro