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Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism With in Situ Thyroid

NCT06728735 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 350

Last updated 2026-03-12

No results posted yet for this study

Summary

Retro-prospective, exploratory, single-centre observational study conducted at the Endrocrine-Metabolic Diseases Centre of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy.

The primary aim is to assess, by NGS sequencing of a panel of target genes, the frequency and type of variants with potential pathogenic significance in a patient population with congenital hypothyroidism and in situ thyroid, born between January 2003 and December 2023 identified through Neontal Screening at the Regional Centre for Neonatal Screening for Endrocrine-Metabolic Diseases, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy.

Conditions

  • Congenital Hypothyroidism

Sponsors & Collaborators

  • IRCCS Azienda Ospedaliero-Universitaria di Bologna

    lead OTHER

Principal Investigators

  • Rita Ortolano, MD · IRCCS Azienda Ospedaliero-Universitaria di Bologna

Eligibility

Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-03-17
Primary Completion
2027-11-30
Completion
2027-12-31

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 NCT06728735 on ClinicalTrials.gov