E-IMD European registry and network for intoxication type metabolic diseases
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1 E-IMD European registry and network for intoxication type metabolic diseases Johannes Häberle University Children s Hospital Zurich Luxembourg 26 October 2011
2 Intoxication type metabolic diseases E-IMD focuses on rare inherited metabolic diseases of amino acid metabolism resulting in accumulation of endogenous toxic metabolites The E-IMD disease panel includes 11 diseases from 2 different subgroups of intoxication type metabolic diseases: Urea cycle defects Classical and cerebral organic acidurias
3 Specification of the rare disease group 1 Orphanet classification of rare inborn errors of metabolism ( Metabolic disease Metabolic intoxication disease Amino acid or protein metabolism disease Ammonia detoxification urea cycle defect Argininemia (ORPHA90) Argininosuccinic aciduria (ORPHA23) Carbamoylphosphate synthetase deficiency (ORPHA147) Citrullinemia (ORPHA23) N-Acetylglutamate synthetase deficiency (ORPHA927) Ornithine transcarbamylase deficiency (ORPHA664) Triple H syndrome (ORPHA415)
4 Specification of the rare disease group 2 Orphanet classification of rare inborn errors of metabolism ( Metabolic disease Metabolic intoxication disease Amino acid or protein metabolism disease Classical organic aciduria Isovaleric acidemia (ORPHA33) Methylmalonic acidemia homocystinuria (ORPHA26) Propionic acidemia (ORPHA35) Vitamin B12-responsive methylmalonic acidemia (ORPHA28) Vitamin B12-unresponsive methylmalonic acidemia (ORPHA27) Cerebral organic aciduria Glutaric acidemia type I (ORPHA25)
5 Specification of the coordinating centre 1 E-IMD coordinator University Hospital Heidelberg, Germany Project leader Prof. Dr Stefan Kölker, MD University Children s Hospital, Clinic I Head, Division of Inherited Metabolic Diseases Legal representative Prof. Dr Claus R. Bartram, MD Dean, Medical Faculty
6 Specification of the coordinating centre 2 Medical Faculty Heidelberg - Oldest medical faculty in Germany (founded in 1386) - Motto (coined by Vinzenz Czerny): In scientia salus University Children s Hospital - Founded in Long-lasting history in the study of rare inherited metabolic diseases -One of the largestmetabolic centres worldwide - Coordinated large-scale network projects -AccreditedEuropean Training Centre in Metabolic Diseases (certified by European Academy of Paediatrics in 2003) Centre for Rare Diseases University Medicine Heidelberg - Founded in Official partner of the Kindernetzwerk e.v. (network for children and adolescents with chronic diseases including rare diseases)
7 Main and specific objectives of the E-IMD Supporting clinical management and quality of care General objective To promote health for children, adolescents and adults with rare organic acidurias (OADs) and urea cycle defects (UCDs) in Europe. Specific objectives 1. European patient registry: to describe the natural history, epidemiology, current diagnostic and therapeutic strategies, to provide information to national and EU healthcare authorities improving knowledge; evaluating current strategies 2. European evidence-based consensus care protocols provided via a website in official EU languages providing structured information for patients, parents and healthcare professionals, improving care, providinga templatefor national guidelines and patient brochures
8 E-IMD: Management structure E-IMD consortium (Advisory board = all partners) WP3: Evaluation Steering committee WP leaders, 1 collab. partner + 1 guideline group representative WP1: Coordination and management WP2: Dissemination WP4: Patient registry WP5: Consensus care protocols Part-time data manager (Beneficiaries); Clinical coll. partners Clinical beneficiaries and coll. partners
9 WP2: E-IMD website
10 WP4: E-IMD patient registry
11 (WP2): Training courses Orphan Europe Academy E-learning hyperammonemia module Online by 1 December 2011
12 Where does the project stand now? 1 Coverage and development process of the network 1. Start of the project (Jan 1, 2011): Continents: 1 Countries: 15 Partners: 27 a) Coordinator/Associate: 13 b) Collaborating: 15
13 Where does the project stand now? 1 Coverage and development process of the network AU 1. Start of the project (Jan 1, 2011): Continents: 1 Countries: 15 Partners: 27 a) Coordinator/Associate: 13 b) Collaborating: Today (Oct 26, 2011): Continents: 3 (+ 200%) Countries: 20 (+ 33%) Partners: 47 (+ 74%) a) Coordinator/Associate: 13 b) Collaborating: 34 (+ 127%)
14 Where does the project stand now? 2 Dissemination and outreach to healthcare professionals and patient organizations Patient organizations Eurordis, BOKS (Belgium), Kindernetzwerk (Germany), KRIKOS ZOIS (Greece), VKS (Netherlands), CLIMB (United Kingdom) National and international Societies for Inherited Metabolic Diseases International: SSIEM, SIMD National: in partner countries Scientific consortia Urea Cycle Disorders Consortium (UCDC) within the Rare Diseases Clinical Research Network (RDCRN), USA
15 Future perspectives Harmonization of E-IMD and UCDC registries transatlantic collaboration Therapeutic development (orphan drugs) and postmarketing disease registry for intoxication type metabolic diseases Revision and further improvement of evidence-based guidelines for diagnosis, therapy and long-term management Standardization of care for patients with intoxication type metabolic diseases in Europe Interdisciplinary, certified training for healthcare professionals
Table Of Content. Outputs... 8
Table Of Content European registry and network for Intoxication type Metabolic Diseases... 2 Summary... 3 Coordinator, Leader contact and partners... 5 Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants
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