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

Status: Recruiting
Location: See location...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Maximum Age: 18
Healthy Volunteers: f
View:

• 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.

Locations
Other Locations
Italy
IRCCS Azienda Ospedaliero-Universitaria di Bologna
RECRUITING
Bologna
Contact Information
Primary
Valeria Di Natale, MD
valeria.dinatale@aosp.bo.it
00390512144829
Time Frame
Start Date: 2021-03-17
Estimated Completion Date: 2025-12-31
Participants
Target number of participants: 350
Sponsors
Leads: IRCCS Azienda Ospedaliero-Universitaria di Bologna

This content was sourced from clinicaltrials.gov