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Study identifier: NCT06728735 Synced from ClinicalTrials.gov · July 29, 2026
● Recruiting

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

Condition: Congenital Hypothyroidism  ·  Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna

PhaseN/A
Planned participants350
Who can joinAll sexes, N/A to 18 Years
Healthy volunteersNo

About this study

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.

This description comes directly from the study's public registry record.

Talk to the study team

Rita Ortolano, MD  ·  00390512144816  ·  rita.ortolano@aosp.bo.it

Always discuss trial participation with your own doctor first.

Locations (1)

IRCCS Azienda Ospedaliero-Universitaria di BolognaBologna, Bologna, ItalyRecruiting

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Source record: clinicaltrials.gov/study/NCT06728735