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

Recruitingn/aAges any - 18 YearsAllIRCCS Azienda Ospedaliero-Universitaria di Bologna
NCT06728735 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
Inclusion Criteria: * 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. Exclusion Criteria: • Patients with hypothyroidism associated with chromosomal syndromes.
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What it tests

  • Not listed
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Where

1 site
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Italy
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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