Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism with in Situ Thyroid
NCT ID: NCT06728735
Last Updated: 2024-12-11
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
350 participants
OBSERVATIONAL
2021-03-17
2025-12-31
Brief Summary
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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.
Detailed Description
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The secondary aims are to identify possible associations between genotype and phenotype; assess the risk of familial recurrence by searching for specific familial mutations; estimate the frequency of congenital hypothyroidisms with thyroid in situ out of the total number of congenital hypothyroidisms at the time of diagnostic confirmation; estimate the percentage frequency of transient and permanent congenital hypothyroidisms in patients with a thyroid in situ at diagnostic re-evaluation; identify possible prognostic factors for transient or permanent congenital hypothyroidism.
The retrospective phase of the study consists of the collection and analysis of clinical, hormonal and instrumental data of the cohort of patients enrolled by consulting their clinical records. More in detail, data on complete medical history, family history, physical examination with evaluation of major associated malformations, and thyroid ecography will be retrospectively collected.
Among this cohort, patients who have been diagnosed with permanent congenital hypothyroidism following diagnostic re-evaluation, according to clinical practice, will undergo molecular analysis by NGS sequencing of a panel of target genes for thyroid pathology.
Conditions
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Keywords
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Study Design
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COHORT
OTHER
Eligibility Criteria
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Inclusion Criteria
* 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
18 Years
ALL
No
Sponsors
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IRCCS Azienda Ospedaliero-Universitaria di Bologna
OTHER
Responsible Party
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Principal Investigators
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Valeria Di Natale, MD
Role: PRINCIPAL_INVESTIGATOR
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Locations
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IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, Italy
Countries
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Central Contacts
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Facility Contacts
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Valeria Di Natale, MD
Role: primary
Valeria Di Natale
Role: backup
Other Identifiers
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IPOGEN2-20
Identifier Type: -
Identifier Source: org_study_id