NCT06728735 Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism With in Situ Thyroid
| NCT ID | NCT06728735 |
| Status | Recruiting |
| Phase | — |
| Sponsor | IRCCS Azienda Ospedaliero-Universitaria di Bologna |
| Condition | Congenital Hypothyroidism |
| Study Type | OBSERVATIONAL |
| Enrollment | 350 participants |
| Start Date | 2021-03-17 |
| Primary Completion | 2027-11-30 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 350 participants in total. It began in 2021-03-17 with a primary completion date of 2027-11-30.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
Eligibility 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.
Contact & Investigator
Rita Ortolano, MD
PRINCIPAL INVESTIGATOR
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Frequently Asked Questions
Who can join the NCT06728735 clinical trial?
This trial is open to participants of all sexes, up to 18 Years, studying Congenital Hypothyroidism. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06728735 currently recruiting?
Yes, NCT06728735 is actively recruiting participants. Contact the research team at rita.ortolano@aosp.bo.it for enrollment information.
Where is the NCT06728735 trial being conducted?
This trial is being conducted at Bologna, Italy.
Who is sponsoring the NCT06728735 clinical trial?
NCT06728735 is sponsored by IRCCS Azienda Ospedaliero-Universitaria di Bologna. The principal investigator is Rita Ortolano, MD at IRCCS Azienda Ospedaliero-Universitaria di Bologna. The trial plans to enroll 350 participants.