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

  • STATUS
    Recruiting
  • participants needed
    115
  • sponsor
    University of Bari Aldo Moro
Updated on 30 July 2024
Accepts healthy volunteers

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.

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.

Details
Condition RASopathy
Age 3years - 25years
Clinical Study IdentifierNCT06489067
SponsorUniversity of Bari Aldo Moro
Last Modified on30 July 2024

Eligibility

Yes No Not Sure

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
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