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  • OP0277-PARE METABERN, THE EUROPEAN REFERENCE NETWORK FOR RARE HEREDITARY DISEASES: STRUCTURE, OBJECTIVES, METABOLIC RMDS AND THE ROLES OF EUROPEAN PATIENT ADVOCACY GROUPS (EPAGS)

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People with Arthritis and Rheumatism in Europe Abstracts
Oral Presentations
PARE Abstract session
OP0277-PARE METABERN, THE EUROPEAN REFERENCE NETWORK FOR RARE HEREDITARY DISEASES: STRUCTURE, OBJECTIVES, METABOLIC RMDS AND THE ROLES OF EUROPEAN PATIENT ADVOCACY GROUPS (EPAGS)
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  1. L. Wagner1,
  2. S. Sestini2,
  3. C. Brown3,
  4. A. Finglas4,
  5. R. Francisco5,
  6. S. Bond6,
  7. C. Lampe7,
  8. C. Belettato6,
  9. C. Van Lingen6,
  10. M. Scarpa6
  11. on behalf of MetabERN collaboration group
  1. 1Deutschsprachige Selbsthilfegruppe für Alkaptonurie e.V., DSAKU e.V., Stuttgart, Germany
  2. 2Associazione italiana dei malati di alcaptonuria, AimAKU, Siena, Italy
  3. 3Krabbe UK, Krabbe UK, London, United Kingdom
  4. 4MSD Action Foundation, MSD Action Foundation, Dublin, Ireland
  5. 5Portuguese Association for CDG and Other Rare Metabolic Diseases, APCDG-DMR, Almada, Portugal
  6. 6Udine University Hospital, MetabERN, Regional Coordination Center for Rare Diseases, Udine, Italy
  7. 7Center for Rare Diseases Giessen, ZSEGI, Giessen, Germany

Abstract

Background: Inborn metabolic disorders (IMDs) currently encompass more than 1,500 diseases with new ones still to be identified1. Each of them is characterised by a genetic defect affecting a metabolic pathway. Only few of them have curative treatments, that target the respective metabolic pathway. Commonly, treatment examples include diet, substrate reduction therapies, enzyme replacement therapies, gene therapy and biologicals, enabling IMD-patient now to survive to adulthood. About 30 % of all IMDs involve the musculoskeletal system and are here referred to as rare metabolic RMDs. Generally, IMDs are very heterogenous with respect to symptoms and severity, often being systemic and affecting more children than adults. Thus, challenges include certified advanced training of adult metabolic experts, standardised transition plans, social support and development of therapies for diseases that do not have any cure yet.

Objectives: Introduction of MetabERN, its structure and objectives, highlighting on the unique features and challenges of metabolic RMDs and describing the involvement of patient representation in MetabERN.

Methods: MetabERN is stratified in 7 subnetworks (SNW) according to the respective metabolic pathways and 9 work packages (WP), including administration, dissemination, guidelines, virtual counselling framework, research/clinical trials, continuity of care, education and patient involvement. The patient board involves a steering committee and single point of contacts for each subnetwork and work package, respectively2. Projects include identifying the need of implementing social science to assess the psycho-socio-economic burden of IMDs, webinars on IMDs and their transition as well as surveys on the impact of COVID-193 on IMD-patients and health care providers (HCPs), social assistance for IMD-patients and analysing the transition landscape within Europe.

Results: The MetabERN structure enables bundling of expertise, capacity building and knowledge transfer for faster diagnosis and better health care. Rare metabolic RMDs are present in all SNWs that require unique treatments according to their metabolic pathways. Implementation of social science to assess the psycho-socio-economic burden of IMDs is still underused. Involvement of patient representatives is essential for a holistic healthcare not only focusing on clinical care, but also on the quality of life for IMD-patients. Surveys identified unmet needs of patient care, patients having little information on national support systems and structural deficits of healthcare systems to ensure HCP can provide adequate clinical care during transition phases. These results are collected by MetabERN and forwarded to the Directorate-General for Health and Food Safety (DG SANTE) of the European Commission (EC) to be addressed further.

Conclusion: MetabERN offers an infrastructure of virtual healthcare for patients with IMDs. Thus, in collaboration with ERN ReCONNET, MetabERN can assist in identifying rare metabolic disorders of RMDs to shorten the odyssey of diagnosis and advise on their respective therapies. On the other hand, MetabERN can benefit from EULAR’s longstanding experience regarding issues affecting the quality of life, all RMD patients are facing, such as pain, stiffness, fatigue, rehabilitation, maintaining work and disability claims.

References: [1]IEMbase - Inborn Errors of Metabolism Knowledgebase http://www.iembase.org/ (accessed Jan 29, 2021).

[2]MetabERN: European Refence Network for Hereditary Metabolic Disorders https://metab.ern-net.eu/ (accessed Jan 29, 2021).

[3]Lampe, C.; Dionisi-Vici, C.; Bellettato, C. M.; Paneghetti, L.; van Lingen, C.; Bond, S.; Brown, C.; Finglas, A.; Francisco, R.; Sestini, S.; Heard, J. M.; Scarpa, M.; MetabERN collaboration group. The Impact of COVID-19 on Rare Metabolic Patients and Healthcare Providers: Results from Two MetabERN Surveys. Orphanet J. Rare Dis. 2020, 15 (1), 341. https://doi.org/10.1186/s13023-020-01619-x.

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Acknowledgements: The authors thank the MetabERN collaboration group, the single point of contacts (SPOC) of the MetabERN patient board and the Transition Project Working Group (TPWG)

Disclosure of Interests: None declared

https://doi.org/10.1136/annrheumdis-2021-eular.3372

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