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Lysosomal storage disorders (LSD)



Rationale

Lysosomal diseases constitute a group of over 50 inherited disorders in lysosomal metabolism.
Most have multi-organ involvement, all are progressive and many have neurodegenerative features.
Some can be treated, but for most only supportive care is available.
The combined incidence is estimated at 1 new case per 5.000-10.000 newborns per year, which results in approximately 500 to 1000 new patients with a lysosomal disease in the EU per year.
Diagnosis can be difficult as symptoms may slowly progress and highly specialized diagnostic tools are mandatory, often resulting in diagnostic delays. Large differences in awareness, availability of diagnostic tools and treatment options exist between countries in the EU.
Objectives

The Lysosomal Core Network within the MetabERN aims to:

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

Organizational structure

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

These include:

- Prevention & Screening for lysosomal diseases.
- Diagnosis of (new) lysosomal diseases (including identification of biomarkers).
- Management of lysosomal 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 Lysosomal 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 Lysosomal Core Network.

Coordinators

Ans van der Ploeg

Center for Lysosomal and Metabolic Diseases, Erasmus MC University Hospital Rotterdam, The Netherlands
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Dominique P. Germain

Hôpitaux Universitaires Paris Ile de France Ouest, France

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Giancarlo Parenti

Azienda Ospedaliera Universitaria "Federico II", Napoli, Italy

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