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

Status: Recruiting
Location: See location...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 3
Maximum Age: 25
Healthy Volunteers: t
View:

• Genetically confirmed RASopathy

• Age 3-25 years

Locations
Other Locations
Italy
University of Bari
RECRUITING
Bari
Contact Information
Primary
Maria Felicia Faienza
mariafelicia.faienza@uniba.it
+393687667438
Time Frame
Start Date: 2024-01-15
Estimated Completion Date: 2024-06-30
Participants
Target number of participants: 115
Sponsors
Leads: University of Bari Aldo Moro

This content was sourced from clinicaltrials.gov