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Peroxisomal disorders (PD)


Rationale

Peroxisomal diseases and lipid related disorders constitute a growing group of inborn errors of metabolism. There clinical presentation of peroxisomal disorders can be quite diverse ranging from neurological and behavioral disease to bone abnormalities. Some are progressive and many have neurodegenerative features. For most of these diseases, treatment is largely supportive. The incidence of peroxisomal disorders is estimated at 1 new case per 20.000 newborns 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.

The lipid related disorders are a diverse group of inborn errors of metabolism. They include lipid synthesis and transport defects, and one of the most frequent group of IMDs.

Objectives

The Peroxisomal and lipid related disorders Core Network within the MetabERN aims to:

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

Organizational structure

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

These include:

- Prevention & Screening for peroxisomal and lipid diseases diseases.
- Diagnosis of (new) peroxisomal and lipid diseases (including identification of biomarkers).
- Management of peroxisomal and lipid 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 Peroxisomal and lipid related 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 Peroxisomal and lipid related Core Network.

Coordinators

Bwee Tien Poll The

Pediatric Neurology Academic Medical Center Amsterdam, The Netherlands

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Linda De Meirleir

Professor and Head of Pediatric Neurology and Metabolic Diseases,
Dept. of Pediatrics, Vrie Universiteit Brussels,
UZ Brussel
Laarbeeklaan 101
1090 Brussels
Belgium

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François Eyskens

University Hospital of Antwerp, Center of Inherited Metabolic Diseases, Belgium

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