This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme INHERITED NEUROMETABOLIC DISEASES INFORMATION NETWORK

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme Project Overview The Project "Inherited NeuroMetabolic Disease Information Network" (InNerMeD-I-Network, , Second Health Programme ) is an European project, started on the 1st of April 2013.

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme Why InNerMed Inherited NeuroMetabolic Diseases (iNMDs) represent an important group of Rare Diseases constituted by genetic metabolic disorders showing clinical neurologic/cognitive symptoms at any time during the progression. Data on iNMDs are scarce as well as poorly disseminated outside the restricted group of experts that are also inadequately connected.

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme Why InNerMed (2) There is a lack of awareness about these conditions that can delay the diagnosis and the start of the treatment, with consequent tragic results. Increasing awareness is therefore the first crucial step in fighting these conditions.

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme InNerMed aims to create a multimedial network of information targeted on research, diagnosis and treatment of inherited neurometabolic diseases (iNMDs) and based on the collection and exchange of validated information among scientific communities, health professionals, patients, patient associations public health authorities, pharmaceutical companies and other interested parties.. InNerMed: AIMS

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme General Objectives The general objectives of the InNerMeD project are: to increase the current knowledge on iNMDs to speed up the timely and precise identification of patients, who thus may benefit from the available (experimental and marketed) treatments to favour biomedical research.

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme to create an Information Network in the field of iNMDs aimed at: 1 ) to create an Information Network in the field of iNMDs aimed at: increasing awareness on these conditions among physicians, patiients and general stakeholders to anticipate diagnosis and, when available, supply an adequate therapy; strengthening research capacities and foster technological innovation in favour of the population affected by iNMDs;. detailed Objectives (1) providing practical support for sharing experiences at global levels on iNMDs; disseminating knowledge on clinical and experimental approaches for diagnosis and treatment of iNMDs, in order to make patients and families empowered and aware as real actors for the correct management of the disease.

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme Detailed Objectives (2) 2) To create a web-based platform with user- friendly access. Through it all validated information on iNMDs, therapies, diagnosis and research will be collected, shared and then disseminated to the Network participants and stakeholders. The Platform will also act to connect the Network nodes, to stimulate collaborative working and to promote the networking activities.

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme The collection, harmonization, simplification, validation, organization and dissemination of all the available scientific data and information on iNMDs, including those regarding centres of expertise, websites of reference recommendations, guidelines, and all data on diagnosis and treatment of iNMDs. These objectives will be achieved by:

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme BRAINS FOR BRAIN FOUNDATION, I CENTER FOR METABOLIC DISORDERS UNIVERSITY OF COPENAGHEN, DK UNIVERSITY OF ZAGREB SCHOOL OF MEDICINE, HR HOSPITAL SANT JOAN DE DÉU, MADRID, E GIANNI BENZI PHARMACOLOGICAL RESEARCH FOUNDATION, I PARTNERS

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme

SPECIFIC OBJECTIVES DESCRIPTION INDICATORS Process and outcomes To create a network in the field of Inherited NMDs Starting form a core based on main, associated and collaborating partners, the enlarged network will be reached in 6 Months, encompassing all interested parties. For effects of the large networking capacity of the partners, a plurality of stakeholders involved in the field of NMDs, including health professionals, specialists and experts, patient’s associations and ethics bodies will be also included in the network activities. PROCESS: Coverage in term of multiple expertises represented and of geographic area of the core Network. Number of centers of excellence, networks, groups and experts that respond to established criteria. Specific Objectives

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme SPECIFIC OBJECTIVES DESCRIPTION INDICATORS Process and outcomes To create an IT platform An IT platform will be set up to be functional to the project. It will connect all the network nodes; it will serve as a tool for developing networking activities with the plurality of external stakeholders, will host the electronic repository and will include instruments to disseminating information. A first prototype platform will be available in 6 Months, and the final platform will be available in 12 Months. PROCESS: Number of information on NMDs identified and classified by sources, type of information (clinical, epidemiological, genetic, diagnostic tools, therapies, etc) type of diseases, age of patients, level of evidence in to the electronic repository. Specific Objectives

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme SPECIFIC OBJECTIVES DESCRIPTION INDICATORS Process and outcomes To create an Electronic Repository Including Multiple Source Relevant Information on inherited NMDs Sources of data identified by the project, such as existing published papers, documents and guidelines, EU-Orphan registry for drugs information, other registries and biobanks as available for specific partners current activities, will be used to extract information to be stored in a Database using a common harmonised model for the data collection including keywords for research. The electronic repository will be set up in 12 Months. PROCESS: visibility of a web page and of the entire web site in search engines as Google demonstrating also that interface is proven to be simple and easy-to-use. OUTCOME: monthly number of accesses to the PLATFORM for each category. Specific Objectives

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme SPECIFIC OBJECTIVES DESCRIPTION INDICATORS Process and outcomes To produce informative scientific documents aimed to reduce the knowledge gap Experts Groups will be created inside the Network to assess the scientific evidence in the collected and integrated information and to assemble it in scientifically sound documents summarising the current existing knowledge and the most recent advancements in NMDs basic biology, diagnosis and treatment including biomarkers and genetic information. Documents will be ready by Month 21. OUTCOME: number of scientifically sounded documents and guidelines produced by the Network, disseminated trough the platform, entered in official guidelines and accepted for publication on PR Journals. Specific Objectives

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme SPECIFIC OBJECTIVES DESCRIPTION INDICATORS Process and outcomes To favour the Development of Diagnostic tests and Medicines for NMDs patients Specific patients population to be proposed for studies and registries will be identified. Specific methodological and ethical recommendations aimed to overcome the existing barriers for developing drugs for small population, will be produced. To be reached in 18 months. OUTCOME: number of new studies and research implemented by different public/private stakeholders in collaboration with the Network and/or adopting the Network ethical and methodological recommendations. Specific Objectives

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme SPECIFIC OBJECTIVES DESCRIPTION INDICATORS Process and outcomes To favour Empowerment of patients In order to favour the empowerment of patients, the following initiatives will be undertaken and made available: - open-label free access to the IT project platform: an advanced query platform to facilitate patients in taking advantage of the expertise gained inside the project; - appropriate pilot educational modules to further disseminate the key results and the validated scientific evidence. To be reached in 1 year. OUTCOME: monthly number of accesses to the platform from patients, patients associations and families, number of query submitted and participation to e- learning courses for patients. Specific Objectives

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme NETWORKING: The core Network is represented by the initial partners while other research centres and experts' groups will be included on the basis of their competencies to continuously help grow the Network. The Network also complies with the criteria for Networks stated in European Health Programmes on Rare Diseases (European Reference Network, ERN) and in the Paediatric Regulation (European Network of Paediatric Research at the European Medicines Agency, Enpr- EMA)..European Reference Network, ERNEuropean Network of Paediatric Research at the European Medicines Agency, Enpr- EMA METHODS 1

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme IT PLATFORM DEVELOPMENT: a publicly available infrastructure assuring user-friendly access and easy exchange of information among users, who do not necessarily need specific technical competences. It will include: A project web portal based on a Content Management System for publicising the project and disseminating its results; An electronic repository to make available all information provided through the project; Interactive systems for sharing data and files. METHODS 2

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme PRODUCTION OF DOCUMENTS, GUIDELINES AND RECOMMENDATIONS: All collected and integrated information will be assessed for scientific evidence and assembled in guidelines and recommendations summarising current existing best practices and most recent advancements in NMD diagnosis and treatment, including biomarkers and genetic information. METHODS 3

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WorkPackages WP1 - COORDINATION OF THE PROJECT WP2 - DISSEMINATION OF THE PROJECT WP3 - EVALUATION OF THE PROJECT WP4 - NETWORKING WP5 - IT PLATFORM WP6 - PRODUCTION OF SCIENTIFIC DOCUMENTS TO BE DISSEMINATED BY THE NETWORK WP7 - ACTIVITIES FAVOURING BIOMEDICAL RESEARCH

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP1 Coordination of the Project

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP1 DELIVERABLES DescriptionStartEnd Month of delivery Interim technical and financial report A report on the advancement of the project including KoM report, Governing Bodies composition, plan of activities, knowledge management, participating centers final list, Deliverables and Milestones status of implementation Final technical and financial report A report on the advancement of the project describing all the activities, including Deliverables and Milestones status. The report also includes proposals for further activities and self-maintenance. 130 WP1 Coordination of the Project

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP1 Coordination of the Project

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP2 Dissemination of the Project

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP2 DELIVERABLES DescriptionStartEnd Month of delivery Project leafletAn informative material prepared with the aim to make different stakeholders aware about the project objectives and potentiality and that will be disseminated within a large scientific and lay community including patient and Health Authorities Laymen’s version of the final project report A final project report will be prepared in a laymen’s version in order to disseminate the InNerMeD-I results. 330 WP2 Dissemination of the Project

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP2 Dissemination of the Project

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP3 Evaluation of the Project

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP3 DELIVERABLES DescriptionStartEnd Month of delivery Evaluation Report The evaluation report will describe the outcomes of the project with respect to the planned activities in terms of achievement or objectives. 330 WP3 Evaluation of the Project

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP3 Evaluation of the Project

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP4 Networking

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP4 DELIVERABLES DescriptionStartEnd Month of delivery InNerMed -I Network To set up a network that will respond to the need of a valid geographic coverage, a multidisciplinary composition and theinclusion of major stakeholders such as health Authorities and patient organization 130 WP4 Networking

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP4 Networking

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP5 IT Platform

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP5 DELIVERABLES DESCRIPTIONSTARTEN D MONTH OF DELIVER Y PROJECT INFORMATION PLATFORM THE IT PLATFORM IS THE TOOL WE WILL USE TO COLLECT, SHARE, STORE AND DISSEMINATE INFORMATION. AS PART OF THE PLATFORM, THE ELECTRONIC REPOSITORY WILL MAKE AVAILABLE ALL INFORMATION PROVIDED THROUGH THE PROJECT WP5 IT Platform

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP5IT Platform WP5 IT Platform

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP6 Production of scientific documents to be disseminated by the network

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP6 DELIVERABLES DescriptionStartEnd Month of delivery Report of the scientific documents prepared and disseminated by the Network A Report on scientific documents prepared by the Network will be available including updating on diagnostic tools available, biomarkers, new drugs available and under development, validated best practices. All documents will be attached as annexes 230 WP6 Production of scientific documents to be disseminated by the network

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP6 Production of scientific documents to be disseminated by the network

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP7 Activity favouring biomedical research

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP7 DELIVERABLES DescriptionStartEnd Month of delivery Plan to facilitate and encourage reserach in NMDs A plan to facilitate and encourage research in NMD will be prepared and include: identification of target populations to be recruited, methodological and, ethical recommendations dissemination Guidelines and recommendations on existing best proactices and advancements in NMD diagnosis and treatment Guidelines and recommendations summarising current existing best practices and most recent advancements in NMD diagnosis and treatment (including biomarkers and genetic information) with evidence based conclusions. 130 WP7 Activity favouring biomedical research

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme WP7 Activity Favouring Biomedical Research

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme This network project will contribute to: reduce the gap affecting iNMDs in different ways. involve a large number of actors and create a critical mass of competences (according to the provisions of Directive 2011/24/EU). Increase awareness on iNMDs epidemiology speed up the timely and precise identification of patients to which apply the available treatments. Translate scientific breakthroughs into clinical practice Expected Outcomes

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme Project Impact The Network will contribute to reduce the knowledge gap affecting iNMDs in different ways: providing a critical mass of competences, instead of a dispersed expertise; providing validated customized information at all levels about iNMDs stimulating innovative research projects to enforce European leadership on iNMDs

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme Project Impact (2) fostering the identification of group of patients to be included in biomedical research (registries and clinical trials); translating scientific breakthroughs into clinical practice; generating social benefit to the aim of establishing a standard of care for patients with iNMDs across Europe.

This document arises from the project InNerMeD-I-Network which has received funding from the European Union, in the framework of the Health Programme