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

Recruiting now

Conditions studied: Congenital Hypothyroidism

In brief

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.

Key facts

Study ID

NCT06728735

Run by

IRCCS Azienda Ospedaliero-Universitaria di Bologna

People needed

350

Starts

2021-03-17

Expected to finish

2027-12-31

Last updated by the study team

2026-03-12

Who can join

Age: any, up to 18. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Patients born in Emilia-Romagna region, Italy, between January 2003 and December 2023;
• Patients screened at the Regional Neonatal Screening Centre for Endrocrine-Metabolic Diseases, IRCCS Azienda Ospedaliero-Universitaria of Bologna, Italy, and recalled for suspected congenital hypothyroidism;
• Confirmed diagnosis of congenital hypothyroidism and in situ thyroid;
• Hormonal and clinical follow-up of at least 36 months at Centre for Endrocrine-Metabolic Diseases, IRCCS Azienda Ospedaliero-Universitaria of Bologna, Italy;
• Obtaining informed consent from parents/legal guardians of paediatric patients.

You may not qualify if…

• Patients with hypothyroidism associated with chromosomal syndromes.

Where it is running

• IRCCS Azienda Ospedaliero-Universitaria di Bologna — Bologna, Bologna, Italy (enrolling)

Full record on ClinicalTrials.gov

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