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"Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" ((CARDIoG))

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ClinicalTrials.gov Identifier: NCT02503267
Recruitment Status : Unknown
Verified March 2017 by Hospital Universitari Vall d'Hebron Research Institute.
Recruitment status was:  Recruiting
First Posted : July 20, 2015
Last Update Posted : March 27, 2017
Sponsor:
Collaborator:
Universidad de Murcia
Information provided by (Responsible Party):
Hospital Universitari Vall d'Hebron Research Institute

Brief Summary:
The objective of the study is to investigate congenital disorders of glycosylation in congenital heart diseases without a clear molecular or genetic basis.

Condition or disease Intervention/treatment
Congenital Heart Diseases Conotruncal Defects Congenital Disorder of Glycosylation Antithrombin III Deficiency Other: none intervention

Detailed Description:

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.

On 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.

The 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.

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Study Type : Observational
Estimated Enrollment : 300 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" (CARDIoG)
Study Start Date : July 2015
Estimated Primary Completion Date : June 2017
Estimated Study Completion Date : June 2017


Group/Cohort Intervention/treatment
patients with congenital heart disease
patients with congenital heart disease
Other: none intervention



Primary Outcome Measures :
  1. Disorders of glycosylation [ Time Frame: 1 year ]

Secondary Outcome Measures :
  1. Incidence of antithrombin deficiency [ Time Frame: 1 year ]

Other Outcome Measures:
  1. Genetical alteractions of disorders of glycosylation [ Time Frame: 1 year ]
  2. Association between disorders of glycosylation and thromboembolic events [ Time Frame: 1 year ]

Biospecimen Retention:   Samples With DNA

Through the blood sample we will:

  • Identify Antitrombin III deficiency
  • Evaluate the glycosylation degree of different glycoproteins
  • Do a genetic analysis


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 90 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
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
Criteria

Inclusion Criteria:

  • Adult with a congenital heart disease with most probability to present a congenital disorder of glycosylation of proteins

Exclusion Criteria:

  • Denial of informed consent.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02503267


Contacts
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Contact: Berta Miranda, MD +34934894038 ext 4038 bmiranda@vhebron.net

Locations
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Spain
Vall d'Hebron Hospital Recruiting
Barcelona, Spain, 08035
Contact: Berta Miranda, MD    +34932743164    bmiranda@vhebron.net   
Contact: Laura Dos, MD,PhD    +34932743164    ldos@vhebron.net   
Sponsors and Collaborators
Hospital Universitari Vall d'Hebron Research Institute
Universidad de Murcia

Publications:

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Responsible Party: Hospital Universitari Vall d'Hebron Research Institute
ClinicalTrials.gov Identifier: NCT02503267    
Other Study ID Numbers: CARDIoG
First Posted: July 20, 2015    Key Record Dates
Last Update Posted: March 27, 2017
Last Verified: March 2017
Keywords provided by Hospital Universitari Vall d'Hebron Research Institute:
antithrombin III deficiency
congenital heart diseases
Additional relevant MeSH terms:
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Heart Diseases
Heart Septal Defects
Antithrombin III Deficiency
Congenital Disorders of Glycosylation
Cardiovascular Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Congenital Abnormalities
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Blood Coagulation Disorders, Inherited
Blood Coagulation Disorders
Hematologic Diseases
Blood Protein Disorders
Thrombophilia