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
​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.
  • OPHTHALMOLOGY
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
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​
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
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

SPDM2016​

SPDM2017​

WG CDG & Liver

SSIEM 2016

WG CDG & Liver

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

​SPDM Symposium 2018

WG Pharmacological Chaperones

International CDG Scientific Symposium2017
​SPDM Symposium 2018

WG CDG & Eyes

International CDG Scientific Symposium 2017
SPDM Symposium 2018

WG CDG & Patient-reported Outcomes

Other resources

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