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

March 24, 2017 updated by: Hospital Universitari Vall d'Hebron Research Institute

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

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

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Anticipated)

300

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Spain
      • Barcelona, Spain, 08035
        • Recruiting
        • Vall d'Hebron Hospital
        • Contact:
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 90 years (ADULT, OLDER_ADULT)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

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

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Disorders of glycosylation
Time Frame: 1 year
1 year

Secondary Outcome Measures

Outcome Measure
Time Frame
Incidence of antithrombin deficiency
Time Frame: 1 year
1 year

Other Outcome Measures

Outcome Measure
Time Frame
Genetical alteractions of disorders of glycosylation
Time Frame: 1 year
1 year
Association between disorders of glycosylation and thromboembolic events
Time Frame: 1 year
1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Hospital Universitari Vall d'Hebron Research Institute

Collaborators

Universidad de Murcia

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

July 1, 2015

Primary Completion (Anticipated)

June 1, 2017

Study Completion (Anticipated)

June 1, 2017

Study Registration Dates

First Submitted

July 13, 2015

First Submitted That Met QC Criteria

July 16, 2015

First Posted (Estimate)

July 20, 2015

Study Record Updates

Last Update Posted (Actual)

March 27, 2017

Last Update Submitted That Met QC Criteria

March 24, 2017

Last Verified

March 1, 2017

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CARDIoG

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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