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  • Research
    • WP1 executive commitee
    • WP2 CDG Diagnosis
    • WP3 CDG Genetics
    • WP4 Biology to guide CDG therapies >
      • GlycoImmunology >
        • ImmunoCDGQ
      • Cardioendocrine
      • Liver
      • Neurology
      • Hematology
      • Ophtalmology
      • Skeletal Disease
    • WP5 SYSTEMS BIOLOGY AND BIOINFORMATICS >
      • Biomedical
      • Computational
      • Metabolomics
      • Systems Biology
    • WP6 CLINICAL AND THERAPEUTIC CDG RESEARCH >
      • Patients
      • Pharmacological
      • CDG ​Portugal
    • WP7 CDG psychology and educational research >
      • Psychology
      • Educational
      • Language
    • WP8 CDG Lobby and Representation >
      • Patient-Centered Care
      • Patient Representative
    • WP9 Communication and Dissemination >
      • Eva Morava
      • Jaak Jaeken
      • Paula Videira
      • Andrea Berarducci
      • David Cassiman
      • Bobby Ng
      • Sandro Bellinzis
    • WP10 Donations & Funds
    • WP11 Collaborations and Open positions
    • WP12 CDG & Allies Community Advisory Committee
  • Resources
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RESEARCH_CDG
  • About
  • Research
    • WP1 executive commitee
    • WP2 CDG Diagnosis
    • WP3 CDG Genetics
    • WP4 Biology to guide CDG therapies >
      • GlycoImmunology >
        • ImmunoCDGQ
      • Cardioendocrine
      • Liver
      • Neurology
      • Hematology
      • Ophtalmology
      • Skeletal Disease
    • WP5 SYSTEMS BIOLOGY AND BIOINFORMATICS >
      • Biomedical
      • Computational
      • Metabolomics
      • Systems Biology
    • WP6 CLINICAL AND THERAPEUTIC CDG RESEARCH >
      • Patients
      • Pharmacological
      • CDG ​Portugal
    • WP7 CDG psychology and educational research >
      • Psychology
      • Educational
      • Language
    • WP8 CDG Lobby and Representation >
      • Patient-Centered Care
      • Patient Representative
    • WP9 Communication and Dissemination >
      • Eva Morava
      • Jaak Jaeken
      • Paula Videira
      • Andrea Berarducci
      • David Cassiman
      • Bobby Ng
      • Sandro Bellinzis
    • WP10 Donations & Funds
    • WP11 Collaborations and Open positions
    • WP12 CDG & Allies Community Advisory Committee
  • Resources
  • Donate
  • Blog

RESOURCES

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CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies- PPAIN)
Where families’ own needs and ideas are transformed into research projects.


If you'd like to receive a full copy of any of these papers, please write to sindromecdg@gmail.com 

Scientific Publications:


  • THERAPIES
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​CDG Therapies: From Bench to Bedside.​
27/04/2018
This paper systematically lists and explains the therapeutic advances being made for CDG. Some therapies are already available, while other are still in early development stages. Nevertheless, many exciting advances have been made in the field of CDG treatments.
​
You can find the abstract HERE and order the complete article HERE.
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Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review
29/11/2018
​Implementation of a patient-centred approach to both clinical research and care settings, has increased the recognition of patient and/or observer reported outcome measures (PROMs or ObsROMs) as informative and necessary tools, namely in clinical trials. PROMs are instruments that capture directly the patient experience with their disease. One of the aspects most commonly assessed by PROMs is health-related quality of life (HrQoL).
Inherited Metabolic Diseases (IMDs)  - among which CDG are included - are a group of disorders that range from mild to severe clinical presentations, but most lacking effective therapies. This work focuses on the existing PROMs tools to measure HrQoL among this patient population.

You can find the abstract HERE and order the complete article HERE.

  • CDG DIAGNOSIS
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The challenge of CDG diagnosis
09/11/2018
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This paper acts as a diagnosis roadmap for clinicians and intendeds to help guide them throughout the process of a CDG diagnosis - from suspicion to genetic confirmation.
It also includes n updated list of all CDG types identified to date.
Finally, this short review can also be used as a lobbying and awareness tool.


You can find the abstract HERE and order the complete article HERE.

  • OPHTHALMOLOGY
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Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review
01/02/2018
This  systematic review of the literature identifies CDG subtypes, caused by defects in the O-glycosylation mechanism subtypes, with eye involvement.
We identified eye problem in 15 CDG subtypes, which means that over 60% of all O-glycosylation CDG have vision affectation.
We also discuss and describe potential causative  molecular mechanisms and present exisitng animal models, as well as explore possible therapeutic avenues.

We believe this work can improve diagnosis,care and management of eye impairment in CDG patients, while also guiding research and promoting theray development.

You can find the abstract HERE and order the complete article HERE.

  • PATIENT-CENTRICITY IN CDG CARE & RESEARCH
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Public and patient involvement in needs assessment and social innovation:a people-centred approach to care and research in congenital disorders of glycosylation
29/09/2017
This qualitative study was based on the think thank methodology applied to the CDG Community. It counted with a total of 48 participants, including patients/family members (n = 18), health care professionals (n = 7), researchers (n = 7) and people combining several of these roles (n = 16). Participants came from 20 countries across five continents. Participants were asked to identify their needs and suggest social measures that could result in a better and patient-centred approach to care and research. Suggested. social innovations included peer-support communities, web-based information resources and a CDG expertise platform.

You can find the abstract HERE and order the complete article HERE.

  • CARDIOLOGY​
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Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature
19/07/2017
This literature review summarizes cardiac involvement, reported in 20% of CDG.
CDG with cardiac involvement were divided according to the associated 
type of glycosylation: N-glycosylation, O-glycosylation, dolichol synthesis, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, COG complex, V-ATPase complex, and other glycosylation pathways.

​The aim of this review was to document and interpret the incidence of heart disease in CDG patients. Heart disorders were grouped into cardiomyopathies, structural defects, and arrhythmogenic disorders. 


​You can find the abstract HERE  and order the complete article HERE.

  • HEPATOLOGY
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An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study.
26/07/2018
This paper focuses on the application of an online patient-centered questionnaire to evalute liver involvement in CDG patients. A total of 155 questionnaires were completed. Impressively, the results obtained from this approach match those acquired through a thorough revision f the literature on this topic. 

This innovative research strategy outcomes many of the limitations related to rare disease research, accelerates the research projects while empowering patients and families and reinforcing the link between families and professionals.

​You can find the abstract HERE  and order the complete article HERE.
Liver involvement in congenital disorders of glycosylation (CDG).  A systematic review of the literature
20/01/2017
Liver is among the affected organs in CDG Patients.
In this review, CDG are divided into major and minor categories in terms of severity and frequency of liver disease.  
  • CDG with major liver involvement: MPI-CDG, TMEM199-CDG, CCDC115-CDG, and ATP6AP1-CDG
  • CDG with minor liver involvement: PMM2-CDG, ALG1-CDG, ALG3-CDG, ALG6-CDG, ALG8-CDG, ALG9-CDG, PGM1-CDG, and COG-CDG. 
​You can find the abstract HERE and order the complete article HERE

  • IMMUNOLOGY
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Immunological aspects of congenital disorders of glycosylation (CDG): A review
28/09/2016
This review article focuses on the aspects of immunological affectation and deregulation in CDG Patient.
You can find the abstract HERE  and order the complete article HERE.

CONFERENCES

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SPDM2016​

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SPDM2017​

WG CDG & Liver
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SSIEM 2016

WG CDG & Liver
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International CDG Scientific Symposium 2017
World Orphan Drug Congress 2017
SPDM Symposium 2018
ECDR Congress 2018


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​SPDM Symposium 2018

WG Pharmacological Chaperones
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International CDG Scientific Symposium2017
​SPDM Symposium 2018

WG CDG & Eyes
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International CDG Scientific Symposium 2017
SPDM Symposium 2018

WG CDG & Patient-reported Outcomes

Other resources

Find more patient and community-friendly resources HERE. 
They are FREE, available in several languages and ready-to-be used, shared or printed.

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Our work is publicly available to help the CDG community and related rare disease communities. Importantly, we do not receive government funding. We rely solely on donations in order to continue our projects. Consider to make a donation using Paypal, debit or credit card or bank transfer.
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©2017 CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN)
  • About
  • Research
    • WP1 executive commitee
    • WP2 CDG Diagnosis
    • WP3 CDG Genetics
    • WP4 Biology to guide CDG therapies >
      • GlycoImmunology >
        • ImmunoCDGQ
      • Cardioendocrine
      • Liver
      • Neurology
      • Hematology
      • Ophtalmology
      • Skeletal Disease
    • WP5 SYSTEMS BIOLOGY AND BIOINFORMATICS >
      • Biomedical
      • Computational
      • Metabolomics
      • Systems Biology
    • WP6 CLINICAL AND THERAPEUTIC CDG RESEARCH >
      • Patients
      • Pharmacological
      • CDG ​Portugal
    • WP7 CDG psychology and educational research >
      • Psychology
      • Educational
      • Language
    • WP8 CDG Lobby and Representation >
      • Patient-Centered Care
      • Patient Representative
    • WP9 Communication and Dissemination >
      • Eva Morava
      • Jaak Jaeken
      • Paula Videira
      • Andrea Berarducci
      • David Cassiman
      • Bobby Ng
      • Sandro Bellinzis
    • WP10 Donations & Funds
    • WP11 Collaborations and Open positions
    • WP12 CDG & Allies Community Advisory Committee
  • Resources
  • Donate
  • Blog