Ignite Creation Date:
2025-12-25 @ 12:43 AM
Ignite Modification Date:
2026-01-01 @ 6:44 PM
Study NCT ID:
NCT02503267
Status:
UNKNOWN
Last Update Posted:
2017-03-27
First Post:
2015-07-13
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
"Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects"
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D006330', 'term': 'Heart Defects, Congenital'}, {'id': 'D018981', 'term': 'Congenital Disorders of Glycosylation'}, {'id': 'D020152', 'term': 'Antithrombin III Deficiency'}], 'ancestors': [{'id': 'D018376', 'term': 'Cardiovascular Abnormalities'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D002239', 'term': 'Carbohydrate Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D025861', 'term': 'Blood Coagulation Disorders, Inherited'}, {'id': 'D001778', 'term': 'Blood Coagulation Disorders'}, {'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D001796', 'term': 'Blood Protein Disorders'}, {'id': 'D019851', 'term': 'Thrombophilia'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Through the blood sample we will:\n\n* Identify Antitrombin III deficiency\n* Evaluate the glycosylation degree of different glycoproteins\n* Do a genetic analysis'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 300}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2015-07'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2017-03', 'completionDateStruct': {'date': '2017-06', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2017-03-24', 'studyFirstSubmitDate': '2015-07-13', 'studyFirstSubmitQcDate': '2015-07-16', 'lastUpdatePostDateStruct': {'date': '2017-03-27', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2015-07-20', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2017-06', 'type': 'ESTIMATED'}}, 'outcomesModule': {'otherOutcomes': [{'measure': 'Genetical alteractions of disorders of glycosylation', 'timeFrame': '1 year'}, {'measure': 'Association between disorders of glycosylation and thromboembolic events', 'timeFrame': '1 year'}], 'primaryOutcomes': [{'measure': 'Disorders of glycosylation', 'timeFrame': '1 year'}], 'secondaryOutcomes': [{'measure': 'Incidence of antithrombin deficiency', 'timeFrame': '1 year'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['antithrombin III deficiency', 'congenital heart diseases'], 'conditions': ['Congenital Heart Diseases', 'Conotruncal Defects', 'Congenital Disorder of Glycosylation', 'Antithrombin III Deficiency']}, 'referencesModule': {'references': [{'pmid': '19757145', 'type': 'BACKGROUND', 'citation': 'Footitt EJ, Karimova A, Burch M, Yayeh T, Dupre T, Vuillaumier-Barrot S, Chantret I, Moore SE, Seta N, Grunewald S. Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S313-9. doi: 10.1007/s10545-009-1262-1. Epub 2009 Sep 7.'}, {'pmid': '14694955', 'type': 'BACKGROUND', 'citation': 'Gehrmann J, Sohlbach K, Linnebank M, Bohles HJ, Buderus S, Kehl HG, Vogt J, Harms E, Marquardt T. Cardiomyopathy in congenital disorders of glycosylation. Cardiol Young. 2003 Aug;13(4):345-51.'}, {'pmid': '19357119', 'type': 'BACKGROUND', 'citation': 'Romano S, Bajolle F, Valayannopoulos V, Lyonnet S, Colomb V, de Barace C, Vouhe P, Pouard P, Vuillaumier-Barrot S, Dupre T, de Keyzer Y, Sidi D, Seta N, Bonnet D, de Lonlay P. Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia). J Med Genet. 2009 Apr;46(4):287-8. doi: 10.1136/jmg.2008.057620. No abstract available.'}, {'pmid': '16473013', 'type': 'BACKGROUND', 'citation': 'Mitra N, Sinha S, Ramya TN, Surolia A. N-linked oligosaccharides as outfitters for glycoprotein folding, form and function. Trends Biochem Sci. 2006 Mar;31(3):156-63. doi: 10.1016/j.tibs.2006.01.003. Epub 2006 Feb 10.'}, {'pmid': '24655794', 'type': 'BACKGROUND', 'citation': 'Lin YS, Liu PH, Wu LS, Chen YM, Chang CJ, Chu PH. Major adverse cardiovascular events in adult congenital heart disease: a population-based follow-up study from Taiwan. BMC Cardiovasc Disord. 2014 Mar 21;14:38. doi: 10.1186/1471-2261-14-38.'}, {'pmid': '24139637', 'type': 'BACKGROUND', 'citation': 'de la Morena-Barrio ME, Hernandez-Caselles T, Corral J, Garcia-Lopez R, Martinez-Martinez I, Perez-Duenas B, Altisent C, Sevivas T, Kristensen SR, Guillen-Navarro E, Minano A, Vicente V, Jaeken J, Lozano ML. GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients. Orphanet J Rare Dis. 2013 Oct 20;8:170. doi: 10.1186/1750-1172-8-170.'}, {'pmid': '20435622', 'type': 'BACKGROUND', 'citation': 'Martinez-Martinez I, Ordonez A, Navarro-Fernandez J, Perez-Lara A, Gutierrez-Gallego R, Giraldo R, Martinez C, Llop E, Vicente V, Corral J. Antithrombin Murcia (K241E) causing antithrombin deficiency: a possible role for altered glycosylation. Haematologica. 2010 Aug;95(8):1358-65. doi: 10.3324/haematol.2009.015487. Epub 2010 Apr 30.'}, {'pmid': '25485983', 'type': 'BACKGROUND', 'citation': 'Aguila S, Martinez-Martinez I, Dichiara G, Gutierrez-Gallego R, Navarro-Fernandez J, Vicente V, Corral J. Increased N-glycosylation efficiency by generation of an aromatic sequon on N135 of antithrombin. PLoS One. 2014 Dec 8;9(12):e114454. doi: 10.1371/journal.pone.0114454. eCollection 2014.'}, {'pmid': '24095982', 'type': 'BACKGROUND', 'citation': 'Dorn C, Grunert M, Sperling SR. Application of high-throughput sequencing for studying genomic variations in congenital heart disease. Brief Funct Genomics. 2014 Jan;13(1):51-65. doi: 10.1093/bfgp/elt040. Epub 2013 Oct 3.'}]}, 'descriptionModule': {'briefSummary': 'The objective of the study is to investigate congenital disorders of glycosylation in congenital heart diseases without a clear molecular or genetic basis.', 'detailedDescription': 'Congenital disorders of glycosylation (CDG) are a family of inherited disorders caused by defects in the synthesis of glycans, glycoproteins or other glycoconjugates. Congenital disorders of glycosylation (CDG) are a family of inherited disorders caused by defects in the synthesis of glycans, glycoproteins or other glycoconjugates. Glycosylation of proteins is crucial for a proper organ morphogenesis and for an appropriate coagulation system functioning. The neurological system is commonly affected in this type of disorders but cases of CDG with normal neurological development have been recently described. The group of Experimental Hematology and Clinic Oncology of the University of Murcia (Spain) recently described a rare disorder of glycosylation (ALG12-CDG) as the cause of antithrombin deficiency in a patient of 19 years with a history of repaired ventricular septal defect.\n\nOn the other hand, population studies have shown an increased incidence of thromboembolic events in patients with congenital heart disease when compared to the general population. The identified genetic defects involved in the development of congenital heart diseases have variable or incomplete penetrance and in most cases the molecular basis is completely unknown.\n\nThe investigators postulate that a CDG might be behind the development of some forms of congenital heart disease and contribute to the greater prevalence of thromboembolic events in this patient population.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '90 Years', 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': '250-300 adult patients who are most likely to have a congenital disorder of glycosylation of proteins, such as ventricular and atrial septal defects and especially conotruncal defects', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Adult with a congenital heart disease with most probability to present a congenital disorder of glycosylation of proteins\n\nExclusion Criteria:\n\n* Denial of informed consent.'}, 'identificationModule': {'nctId': 'NCT02503267', 'acronym': '(CARDIoG)', 'briefTitle': '"Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects"', 'organization': {'class': 'OTHER', 'fullName': "Hospital Universitari Vall d'Hebron Research Institute"}, 'officialTitle': '"Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" (CARDIoG)', 'orgStudyIdInfo': {'id': 'CARDIoG'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'patients with congenital heart disease', 'description': 'patients with congenital heart disease', 'interventionNames': ['Other: none intervention']}], 'interventions': [{'name': 'none intervention', 'type': 'OTHER', 'armGroupLabels': ['patients with congenital heart disease']}]}, 'contactsLocationsModule': {'locations': [{'zip': '08035', 'city': 'Barcelona', 'state': 'Barcelona', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Berta Miranda, MD', 'role': 'CONTACT', 'email': 'bmiranda@vhebron.net', 'phone': '+34932743164'}, {'name': 'Laura Dos, MD,PhD', 'role': 'CONTACT', 'email': 'ldos@vhebron.net', 'phone': '+34932743164'}], 'facility': "Vall d'Hebron Hospital", 'geoPoint': {'lat': 41.38879, 'lon': 2.15899}}], 'centralContacts': [{'name': 'Berta Miranda, MD', 'role': 'CONTACT', 'email': 'bmiranda@vhebron.net', 'phone': '+34934894038', 'phoneExt': '4038'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "Hospital Universitari Vall d'Hebron Research Institute", 'class': 'OTHER'}, 'collaborators': [{'name': 'Universidad de Murcia', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}