Condition: Congenital Hypothyroidism · Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna
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.
Rita Ortolano, MD · 00390512144816 · rita.ortolano@aosp.bo.it
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| IRCCS Azienda Ospedaliero-Universitaria di Bologna | Bologna, Bologna, Italy | Recruiting |
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Source record: clinicaltrials.gov/study/NCT06728735