Actively Recruiting
Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism With in Situ Thyroid
Led by IRCCS Azienda Ospedaliero-Universitaria di Bologna · Updated on 2026-03-12
350
Participants Needed
1
Research Sites
354 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism With in Situ Thyroid
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients born in Emilia-Romagna region, Italy, between January 2003 and December 2023
- Patients screened at the Regional Neonatal Screening Centre for Endocrine-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 Endocrine-Metabolic Diseases, IRCCS Azienda Ospedaliero-Universitaria of Bologna, Italy
- Obtaining informed consent from parents/legal guardians of paediatric patients
You will not qualify if you...
- Patients with hypothyroidism associated with chromosomal syndromes
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, Italy, 40138
Actively Recruiting
Research Team
R
Rita Ortolano, MD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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