Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism With in Situ Thyroid

NCT06728735 | Recruiting

• 1 other identifier: IPOGEN2-20
• Study Type: observational
• Target: 350
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Congenital Hypothyroidism

Keywords

Congenital Hypothyroidism

Outcome Measures

Primary Outcomes (1)

• NGS sequencing of a panel of target genes for thyroid pathology

  DUOX2, DUOXA2, FOXE1, GLIS3, IGSF1, IYD, NIKX2-1, NIKX2-5, PAX8, SLC16A2, SLC26A4, SLC5A5, TG, THRA, THRB, TPO, TSHB, and TSHR genes

  At the time of diagnostic reevaluation, on average 1 year after diagnosis, if permanent congenital hypothyroidism is confirmed

Secondary Outcomes (2)

• TSH value at screening test, and at diagnostic confirmation

  at baseline

• ft4 values at diagnostic confirmation

  at baseline

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Patients born in Emilia-Romagna, Italy, between January 2003 and December 2023, recalled by the Regional Centre for Neonatal Screening for Endrocrine-Metabolic Diseases, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy, for suspected congenital hypothyroidism and diagnosed with congenital hypothyroidism and in situ thyroid.

You may qualify if:

• 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.

You may not qualify if:

• Patients with hypothyroidism associated with chromosomal syndromes.

Sponsors & Collaborators

• IRCCS Azienda Ospedaliero-Universitaria di Bologna: lead

Study Sites (1)

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, Bologna, 40138, Italy

RECRUITING

MeSH Terms

Conditions

Congenital Hypothyroidism

Condition Hierarchy (Ancestors)

Dwarfism; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Bone Diseases, Endocrine; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Hypothyroidism; Thyroid Diseases

Study Officials

• Rita Ortolano, MD

  IRCCS Azienda Ospedaliero-Universitaria di Bologna

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Rita Ortolano, MD

CONTACT

00390512144816; rita.ortolano@aosp.bo.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD

Study Record Dates

• First Submitted: December 3, 2024
• First Posted: December 11, 2024
• Study Start: March 17, 2021
• Primary Completion (Estimated): November 30, 2027
• Study Completion (Estimated): December 31, 2027
• Last Updated: March 12, 2026

Record last verified: 2025-11

Locations

IT (1)