Clinical Trial: "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects"

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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

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.

Detailed Summary:

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.

Sponsor: Hospital Universitari Vall d'Hebron Research Institute

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

Original Primary Outcome: Same as current

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

Original Secondary Outcome: Same as current

Information By: Hospital Universitari Vall d'Hebron Research Institute

Dates:
Date Received: July 13, 2015
Date Started: July 2015
Date Completion: June 2017
Last Updated: March 24, 2017
Last Verified: March 2017