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Congenital disorders of glycosylation and disorders of intracellular trafficking (CDG)


Rationale

Congenital disorders of glycosylation diseases constitute a group of over 100 inherited disorders and every year new disorders are being discovered. Many proteins in the human body are glycosylated to be able to fulfill their function. Glycosylated proteins play a role in multiple biologic processes, and participate in cellular trafficking. Disorders of glycosylation present often with multisystem diseases. For some of these disorders dietary therapy with simple sugars can lead to great clinical improvements. Supportive care is paramount and care strategies vary broadly in Europe.

Objectives

The Congenital disorders of glycosylation Core Network within the MetabERN aims to:

- gain an overview of patients with congenital disorders of glycosylation diseases in the EU (e.g. which diseases, how many patients, clinical outcome, etc.).
- promote awareness towards congenital disorders of glycosylation diseases in the EU.
- facilitate the more rapid diagnosis of congenital disorders of glycosylation diseases in the EU as often a significant diagnostic delay is still present.
- improve and standardize management of congenital disorders of glycosylation diseases in the EU.
- improve prospects of patients with congenital disorders of glycosylation disease in the EU by initiating and contributing to research and implementation of innovative therapies.

Organizational structure

The Congenital disorders of glycosylation Core Network will consist of participating HCPs within the MetabERN with expertise in the field of congenital disorders of glycosylation diseases and will build on or seek collaboration with existing international collaborations and networks of HCPs in the field of congenital disorders of glycosylation diseases. Working groups will be formed to address different important topics within the field of congenital disorders of glycosylation diseases.

These include:

- Prevention & Screening for congenital disorders of glycosylation diseases.
- Diagnosis of (new) congenital disorders of glycosylation diseases (including identification of biomarkers).
- Management of congenital disorders of glycosylation diseases (development of clinical guidelines & care paths).
- Epidemiology & Outcome (participation in existing and development of new registries).
- Education and Training (development of E-learning tools, work-shops and courses).
- Virtual Counselling (for specific diseases at different HCPs with specific expertise).
- Patient Empowerment (organization of patient meetings and interaction with patient organizations).
- Research (fundamental, translational, clinical).

The executive board of the Congenital disorders of glycosylation Core Network will formed by the chairpersons of the working groups. An advisory board (with members of patients organizations, policy makers, etc) will be appointed to monitor the different activities of the Congenital disorders of glycosylation Core Network.
CDG

Coordinators

Eva Morava

University Hospitals Leuven, Department of Pediatrics, Division of Metabolic Disorders

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Tomáš Honzík

Charles University and General University Hospital in Prague, • Department of Pediatrics and Adolescent Medicine (1. LF)

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Pascal De Lonlay

Hôpital Necker-Enfants Malades, APHP, University Paris-Descartes, France

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