Peroxisomal and lipid-related disorders
Peroxisomal and lipid-related disorders are a growing group of inborn errors of metabolism in which there is an impairment in one or more peroxisomal functions or a dysregulation of peroxisome biogenesis. These disorders can present a range of symptoms, including hearing and vision loss, leukodystrophy (deterioration of the white matter in the brain), adrenal insufficiency, developmental delay, and bone abnormalities. In more severe cases, the central nervous system may also be affected, leading to intellectual disability and progressive neurodegenerative features. The incidence of peroxisomal disorders is estimated at 1 new case per 20,000 newborns per year. Lipid-related disorders, instead, are among the most common inherited metabolic disorders and include lipid synthesis and transport defects.
Early diagnosis and treatment are crucial in the management of these disorders and in preventing potential complications, as they can have a significant impact on a person’s quality of life and overall health.
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 subnetworl 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 subnetwork will be 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 subnetwork.
Coordinators
Patient Representative
