Exploring genetic causes of congenital hypothyroidism
Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism With in Situ Thyroid: Preliminary Data in Patients Followed at the Regional Neonatal Screening Centre for Endrocrine-Metabolic Disease in Bologna
This study looks at the genetic causes of congenital hypothyroidism in babies born in Emilia-Romagna, Italy, to see how different genes might affect their condition and future health.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 350 (estimated) |
| Ages | N/A to 18 Years |
| Sex | All |
| Sponsor | IRCCS Azienda Ospedaliero-Universitaria di Bologna Academic / other |
| Locations | 1 site (Bologna, Bologna) |
| Trial ID | NCT06728735 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include patients born in Emilia-Romagna with a confirmed diagnosis of congenital hypothyroidism and in situ thyroid, who have undergone at least 36 months of follow-up.
Not a fit: Patients with hypothyroidism associated with chromosomal syndromes will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance the understanding of congenital hypothyroidism and improve diagnostic and treatment strategies for affected patients.
How similar studies have performed: While similar studies have explored genetic factors in congenital hypothyroidism, this specific approach using NGS in a defined patient population is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Bologna, Bologna
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.