Congenital Heart Diseases(CARDIoG)NCT02503267
"Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects"
An observational study of Congenital Heart Diseases and Conotruncal Defects, run by Hospital Universitari Vall d'Hebron Research Institute at 1 site in Spain.
Trial summary
The objective of the study is to investigate congenital disorders of glycosylation in congenital heart diseases without a clear molecular or genetic basis. Read more about this study
- Who is it for?
- Ages 18 to 90 years
- Conditions the study is for
- Congenital Heart Diseases, Conotruncal Defects, Congenital Disorder of Glycosylation
- What is being tested?
- none intervention
- How many people
- 300 participants
- Where
- 1 siteSpain
- Study dates
- Jul 2015to Jun 2017
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 90 years
- All sexes
- No healthy volunteers
- Adult, Older adult
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
Who may be able to join
- Adult with a congenital heart disease with most probability to present a congenital disorder of glycosylation of proteins
Who cannot join
- Denial of informed consent.
Trial locations and contacts
1 site in 1 country.
Spain1 site, 1 recruiting
- Recruiting
Vall d'Hebron Hospital
Barcelona, Barcelona, 08035
Berta Miranda, MD, +34932743164, bmiranda@vhebron.net
Laura Dos, MD,PhD, +34932743164, ldos@vhebron.net
About this study
Official title: "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.
Read the 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.
- Conditions
- Congenital Heart Diseases, Conotruncal Defects, Congenital Disorder of Glycosylation, Antithrombin III Deficiency
- Being tested
- none intervention
- Keywords
- antithrombin III deficiency, congenital heart diseases
- Medical subject headings
- Heart Defects, Congenital, Congenital Disorders of Glycosylation, Antithrombin III Deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
none interventionOther
| Study group | Role | What they receive |
|---|---|---|
| patients with congenital heart disease | patients with congenital heart disease Receives: Other: none intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Disorders of glycosylation
Measured: 1 year
Secondary outcomes (1)
Incidence of antithrombin deficiency
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Jul 2015 (estimated)
- Study startJul 2015
- Primary completionJun 2017 (estimated)
- Study completionJun 2017 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (9)Papers the sponsor has linked to this study.
- Other trials for Congenital Heart DiseasesStudies of the same condition, open and under way.
- More trials run by Hospital Universitari Vall d'Hebron Research InstituteThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- Universidad de Murcia
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02503267
- Sponsor's protocol ID
- CARDIoG
- Acronym
- (CARDIoG)
- Status last verified
- Mar 2017
- First submitted
- 13 Jul 2015
- Last updated
- 27 Mar 2017
- Results posted
- No
- Data monitoring committee
- No
Publications
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.
PubMed 19757145Gehrmann 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.
PubMed 14694955Romano 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.
PubMed 19357119Mitra 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.
PubMed 16473013Lin 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.
PubMed 24655794de 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.
PubMed 24139637Martinez-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.
PubMed 20435622Aguila 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.
PubMed 25485983Dorn 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.
PubMed 24095982
Study at a glance
From the registry record, last updated by the sponsor on 27 Mar 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" (CARDIoG)
- ClinicalTrials.gov ID
- NCT02503267
- Acronym / sponsor ID
- (CARDIoG) / CARDIoG
- Conditions
- Congenital Heart Diseases, Conotruncal Defects, Congenital Disorder of Glycosylation, Antithrombin III Deficiency
- Keywords
- antithrombin III deficiency, congenital heart diseases
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Hospital Universitari Vall d'Hebron Research InstituteUniversity, hospital or other
- Collaborators
- Universidad de Murcia
- Study start
- Jul 2015
- Primary completion
- Jun 2017 (estimated)
- Study completion
- Jun 2017 (estimated)
- First posted
- 20 Jul 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The objective of the study is to investigate congenital disorders of glycosylation in congenital heart diseases without a clear molecular or genetic basis.
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 design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| patients with congenital heart disease | – | Other: none interventionpatients with congenital heart disease |
Who may qualify
- Ages
- 18 to 90 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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
Key inclusion criteria (1 listed)
- Adult with a congenital heart disease with most probability to present a congenital disorder of glycosylation of proteins
Key exclusion criteria (1 listed)
- Denial of informed consent.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| none intervention | Other | patients with congenital heart disease |
Primary outcome
Disorders of glycosylation
Time frame: 1 year
1 secondary outcome
Incidence of antithrombin deficiency
Time frame: 1 year
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Mar 2017.
- Background: PubMed 19757145Footitt 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.
- Background: PubMed 14694955Gehrmann 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.
- Background: PubMed 19357119Romano 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.
- Background: PubMed 16473013Mitra 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.
- Background: PubMed 24655794Lin 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.
- Background: PubMed 24139637de 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.
- Background: PubMed 20435622Martinez-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.
- Background: PubMed 25485983Aguila 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.
- Background: PubMed 24095982Dorn 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Heart Diseases and Conotruncal Defects, run by Hospital Universitari Vall d'Hebron Research Institute at 1 site in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 27 Mar 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Berta Miranda, MD (+34934894038 ext. 4038, bmiranda@vhebron.net), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Disorders of glycosylation (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02503267, which also lists 9 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Mar 2017.