Ignite Creation Date:
2025-12-24 @ 7:09 PM
Ignite Modification Date:
2026-02-21 @ 6:45 PM
Study NCT ID:
NCT00493103
Status:
COMPLETED
Last Update Posted:
2007-06-27
First Post:
2007-06-25
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
TG Gene Mutations and Congenital Hypothyroidism
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D003409', 'term': 'Congenital Hypothyroidism'}], 'ancestors': [{'id': 'D004392', 'term': 'Dwarfism'}, {'id': 'D001848', 'term': 'Bone Diseases, Developmental'}, {'id': 'D001847', 'term': 'Bone Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D001849', 'term': 'Bone Diseases, Endocrine'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D004700', 'term': 'Endocrine System Diseases'}, {'id': 'D007037', 'term': 'Hypothyroidism'}, {'id': 'D013959', 'term': 'Thyroid Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER'}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2003-07'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2007-06', 'completionDateStruct': {'date': '2007-06', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2007-06-25', 'studyFirstSubmitDate': '2007-06-25', 'studyFirstSubmitQcDate': '2007-06-25', 'lastUpdatePostDateStruct': {'date': '2007-06-27', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2007-06-27', 'type': 'ESTIMATED'}}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['thyroglobulin gene', 'congenital hypothyroidism', 'gene mutations', 'fetal goiter', 'iodine nutrition'], 'conditions': ['Congenital Hypothyroidism']}, 'descriptionModule': {'briefSummary': 'The aim of this study was to identify mutations in the thyroglobulin gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.', 'detailedDescription': 'Congenital goitrous hypothyroid is commonly linked to thyroglobulin (TG) gene mutations.We aim to identify mutations in the TG gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.Four related patients with congenital goiter hypothyroidism from an inbred family were studied.Recombinant human TSH stimulation test, DNA sequencing and protein computer analysis were performed.We identified a novel compound heterozygous constellation (IVS30+1G\\>T/A2215D) in two siblings. It was also identified a homozygous intronic mutation (IVS30+1G\\>T) in their cousins, one of them with fetal goiter. The mutation IVS30+1G\\>T promotes an aberrant splicing and loss of the entire exon 30 (138 nt) in the resulting messenger RNA. The recent described mutation A2215D is located in the ACHE-like domain, which functions as a dimerization domain, facilitating efficient intracellular transport of the protein. Protein computer analysis suggested that the A2215D mutation causes TG structural alterations.A novel compound heterozygous constellation (IVS30+1G\\>T/A2215D) and the previously described mutation (IVS30+1G\\>T) that cause severe congenital hypothyroidism due to defective TG synthesis have been identified. The mutation IVS30+1G\\>T may be related to fetal goiter and hypothyroidism due to TG instability and impaired TG export to the colloid. This study shows the efficiency of the use of rhTSH in the differential diagnosis of CH due to TG defective synthesis and the importance of molecular diagnosis of CH for possible intrauterine treatment, thereby avoiding damage to the neuropsychomotor system.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patients with congenital hypothyroidism due to thyroglobulin defective synthesis.\n\nExclusion Criteria:\n\n* Patients with another disease.'}, 'identificationModule': {'nctId': 'NCT00493103', 'briefTitle': 'TG Gene Mutations and Congenital Hypothyroidism', 'organization': {'class': 'OTHER', 'fullName': 'University of Sao Paulo'}, 'officialTitle': 'Congenital Hypothyroidism Due to Thyroglobulin Mutations in an Inbred Brazilian Family: A Novel Compound Heterozygous Constellation and Intronic Mutation Related to Fetal Goiter.', 'orgStudyIdInfo': {'id': 'PRN989/03'}}, 'contactsLocationsModule': {'overallOfficials': [{'name': 'Viviane Pardo', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University of Sao Paulo'}, {'name': 'Geraldo Medeiros-Neto', 'role': 'STUDY_DIRECTOR', 'affiliation': 'University of Sao Paulo'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University of Sao Paulo', 'class': 'OTHER'}, 'collaborators': [{'name': 'Fundação de Amparo à Pesquisa do Estado de São Paulo', 'class': 'OTHER_GOV'}]}}}