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

NCT06489067 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 115

Last updated 2024-07-05

No results posted yet for this study

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

Sponsors & Collaborators

  • University of Bari Aldo Moro

    lead OTHER

Principal Investigators

  • MARIA FELICIA FAIENZA, MD · University of Bari

Eligibility

Min Age
3 Years
Max Age
25 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2024-01-15
Primary Completion
2024-06-30
Completion
2024-06-30

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06489067 on ClinicalTrials.gov