Exploring genetic causes of congenital hypothyroidism

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to investigate the genetic variants associated with congenital hypothyroidism in patients born in Emilia-Romagna, Italy, between January 2003 and December 2023. Utilizing next-generation sequencing (NGS), the study will analyze a panel of target genes to identify pathogenic variants in patients diagnosed through neonatal screening. The research will also explore genotype-phenotype associations, familial recurrence risks, and prognostic factors for transient versus permanent congenital hypothyroidism. Data will be collected retrospectively from clinical records, including medical history and thyroid evaluations.

Why it matters

Who can join: the full rules

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.

Where it's running

• IRCCS Azienda Ospedaliero-Universitaria di Bologna
  Bologna, Bologna, Italy Recruiting

Study contacts

• Principal investigator: Rita Ortolano, MD — IRCCS Azienda Ospedaliero-Universitaria di Bologna
• Study coordinator: Rita Ortolano, MD
• Email: rita.ortolano@aosp.bo.it
• Phone: 00390512144816

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Comparing different levothyroxine formulations for treating congenital hypothyroidism in newborns

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.