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Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism With in Situ Thyroid
Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna
Summary
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.
Official title: 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
Key Details
Gender
All
Age Range
Any - 18 Years
Study Type
OBSERVATIONAL
Enrollment
350
Start Date
2021-03-17
Completion Date
2027-12-31
Last Updated
2026-03-12
Healthy Volunteers
No
Conditions
Locations (1)
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, Italy