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

NCT06489067 | Recruiting DMC

• 1 other identifier: 1386/CEL
• Study Type: observational
• Target: 115
• Locations: 1 country
• Sites: 1

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.

Conditions

RASopathy

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Number of patients with RASopathies presenting with bone disease

  6 months

Eligibility Criteria

• Age: 3 Years - 25 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

patients with genetically confirmed RASopathy

You may qualify if:

• Genetically confirmed RASopathy
• Age 3-25 years

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Bari Aldo Moro: lead

Study Sites (1)

University of Bari

Bari, 70124, Italy

RECRUITING

Study Officials

• MARIA FELICIA FAIENZA, MD

  University of Bari

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Maria Felicia Faienza

CONTACT

+393687667438; mariafelicia.faienza@uniba.it

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor of Pediatrics

Study Record Dates

• First Submitted: June 26, 2024
• First Posted: July 5, 2024
• Study Start: January 15, 2024
• Primary Completion: June 30, 2024
• Study Completion: June 30, 2024
• Last Updated: July 5, 2024

Record last verified: 2024-07

Locations

IT (1)