An observational study in Congenital Hypothyroidism, sponsored by IRCCS Azienda Ospedaliero-Universitaria di Bologna. Recruiting at 1 site in Italy. Open to participants aged Up to 18 Years. Per ClinicalTrials.gov, last updated 2026-03-12.
Sponsored by IRCCS Azienda Ospedaliero-Universitaria di Bologna · Observational
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.
The primary aim of this study 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.
The secondary aims are to identify possible associations between genotype and phenotype; assess the risk of familial recurrence by searching for specific familial mutations; estimate the frequency of congenital hypothyroidisms with thyroid in situ out of the total number of congenital hypothyroidisms at the time of diagnostic confirmation; estimate the percentage frequency of transient and permanent congenital hypothyroidisms in patients with a thyroid in situ at diagnostic re-evaluation; identify possible prognostic factors for transient or permanent congenital hypothyroidism.
The retrospective phase of the study consists of the collection and analysis of clinical, hormonal and instrumental data of the cohort of patients enrolled by consulting their clinical records. More in detail, data on complete medical history, family history, physical examination with evaluation of major associated malformations, and thyroid ecography will be retrospectively collected.
Among this cohort, patients who have been diagnosed with permanent congenital hypothyroidism following diagnostic re-evaluation, according to clinical practice, will undergo molecular analysis by NGS sequencing of a panel of target genes for thyroid pathology.
27 studies on the registry are indexed under Congenital Hypothyroidism; 9 are open to participants now.
This study's planned enrollment of 350 is above the median of 241 across 14 observational studies indexed under Congenital Hypothyroidism.
Browse Congenital Hypothyroidism studies →IRCCS Azienda Ospedaliero-Universitaria di Bologna is the lead sponsor of 511 studies on the registry; 287 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients born in Emilia-Romagna, Italy, between January 2003 and December 2023, recalled by the Regional Centre for Neonatal Screening for Endrocrine-Metabolic Diseases, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy, for suspected congenital hypothyroidism and diagnosed with congenital hypothyroidism and in situ thyroid.
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Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
NGS sequencing of a panel of target genes for thyroid pathology
DUOX2, DUOXA2, FOXE1, GLIS3, IGSF1, IYD, NIKX2-1, NIKX2-5, PAX8, SLC16A2, SLC26A4, SLC5A5, TG, THRA, THRB, TPO, TSHB, and TSHR genes
Time frame: At the time of diagnostic reevaluation, on average 1 year after diagnosis, if permanent congenital hypothyroidism is confirmed
TSH value at screening test, and at diagnostic confirmation
microU/ml
Time frame: at baseline
ft4 values at diagnostic confirmation
pg/ml
Time frame: at baseline
Started Mar 2021 (actual). Primary completion is estimated for Nov 2027, 80 months after the start.
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