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

NCT02503267 | Unknown

• 1 other identifier: CARDIoG
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

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.

Conditions

Congenital Heart Diseases; Conotruncal Defects; Congenital Disorder of Glycosylation; Antithrombin III Deficiency

Keywords

antithrombin III deficiency; congenital heart diseases

Outcome Measures

Primary Outcomes (1)

• Disorders of glycosylation

  1 year

Secondary Outcomes (1)

• Incidence of antithrombin deficiency

  1 year

Other Outcomes (2)

• Genetical alteractions of disorders of glycosylation

  1 year

• Association between disorders of glycosylation and thromboembolic events

  1 year

Study Arms (1)

patients with congenital heart disease

patients with congenital heart disease

Other: none intervention

Interventions

none intervention OTHER

patients with congenital heart disease

Eligibility Criteria

• Age: 18 Years - 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

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

You may not qualify if:

• Denial of informed consent.

Sponsors & Collaborators

• Hospital Universitari Vall d'Hebron Research Institute: lead
• Universidad de Murcia: collaborator

Study Sites (1)

Vall d'Hebron Hospital

Barcelona, Barcelona, 08035, Spain

RECRUITING

Related Publications (9)

• 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: 19757145 BACKGROUND

• 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: 14694955 BACKGROUND

• 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: 19357119 BACKGROUND

• 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: 16473013 BACKGROUND

• 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: 24655794 BACKGROUND

• 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: 24139637 BACKGROUND

• 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: 20435622 BACKGROUND

• 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: 25485983 BACKGROUND

• 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.

  PMID: 24095982 BACKGROUND

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

MeSH Terms

Conditions

Heart Defects, Congenital; Congenital Disorders of Glycosylation; Antithrombin III Deficiency

Condition Hierarchy (Ancestors)

Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Nutritional and Metabolic Diseases; Blood Coagulation Disorders, Inherited; Blood Coagulation Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Blood Protein Disorders; Thrombophilia

Central Study Contacts

Berta Miranda, MD

CONTACT

+34934894038; bmiranda@vhebron.net

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 13, 2015
• First Posted: July 20, 2015
• Study Start: July 1, 2015
• Primary Completion: June 1, 2017
• Study Completion: June 1, 2017
• Last Updated: March 27, 2017

Record last verified: 2017-03

Locations

ES (1)