Actively Recruiting

Age: 3Years - 25Years
All Genders
Healthy Volunteers
NCT06489067

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

Led by University of Bari Aldo Moro · Updated on 2024-07-05

115

Participants Needed

1

Research Sites

23 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

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

Official Title

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

Who Can Participate

Age: 3Years - 25Years
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Genetically confirmed RASopathy
  • Age between 3 and 25 years
Not Eligible

You will not qualify if you...

  • Previous radiotherapy treatments or known exposure to ionizing radiation
  • Iodine deficiency
  • Use of iodine-based compounds or drugs that interfere with thyroid function
  • Congenital hypothyroidism or hyperthyroidism
  • Severe obesity with metabolic complications

AI-Screening

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Trial Site Locations

Total: 1 location

1

University of Bari

Bari, Italy, 70124

Actively Recruiting

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Research Team

M

Maria Felicia Faienza

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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