Study of the Thyroid Function and Echostructural Morphology in Patients Affected With Rasopathies (ECORAS2023) (ECORAS2023)

Study of the Thyroid Function and Echostructural Morphology in Patients Affected With Rasopathies. An Italian Multicenter Study

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.

Study Overview

• Status: Recruiting
• Conditions: 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 Type: Observational
• Enrollment (Estimated): 115

Contacts and Locations

• Study Contact: Name: Maria Felicia Faienza; Phone Number: +393687667438; Email: mariafelicia.faienza@uniba.it

Study Locations

• Italy
  • Bari, Italy, 70124
    • Recruiting
    • University of Bari
    • Contact: MARIA FELICIA MF FAIENZA

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Probability Sample

Study Population

patients with genetically confirmed RASopathy

Description

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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of patients with RASopathies presenting with thyroid function and ultrasound abnormalities compared to the general population (observational study)	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.	6 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of patients with RASopathies presenting with bone disease	Evaluate the association between vitamin D deficiency and/or bone disease and thyroid function and/or morphostructural abnormalities of the thyroid gland in patients with RASopathy. For each patient biomarkers of bone metabolism (calcium, phosphorus, vitamin D, ALP bone isoenzyme, PTH, osteocalcin) will be evaluated in order to find a possible association with thyroid abnormalities. In order to evaluate the association between the different variables (primarily, biomarkers of bone metabolism) and the outcomes measured (thyroid dysfunction or ultrasound abnormalities), binary logistic regression models will be built, adjusting for possible confounding factors.	6 months

Collaborators and Investigators

• Sponsor: University of Bari Aldo Moro
• Investigators: Principal Investigator: MARIA FELICIA FAIENZA, MD, University of Bari

Study record dates

Study Major Dates

• Study Start (Actual): January 15, 2024
• Primary Completion (Actual): June 30, 2024
• Study Completion (Estimated): June 30, 2024

Study Registration Dates

• First Submitted: June 26, 2024
• First Submitted That Met QC Criteria: July 3, 2024
• First Posted (Actual): July 5, 2024

Study Record Updates

• Last Update Posted (Actual): July 5, 2024
• Last Update Submitted That Met QC Criteria: July 3, 2024
• Last Verified: July 1, 2024

More Information

Terms related to this study

• Other Study ID Numbers: 1386/CEL

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No