TREAT-NMD Curators Meeting, Istanbul, 29 th September TREAT-NMD Alliance Update new governance structure and

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1 1 TREAT-NMD Alliance Update new governance structure and future plans

2 2 What is TREAT-NMD? A network of excellence initially funded by the European Union (but with global collaborations) Aims to help promising new treatments for neuromuscular diseases make the transition from the lab to the patient Not a research project but an infrastructure project Creating the tools for trial-readiness in the neuromuscular field Helping researchers and expert centres collaborate better Improving patient care worldwide Sustained beyond 2011 as TREAT-NMD Alliance

3 3 Why have a network? Rare diseases -no one country is enough To tackle issues that can be settled more effectively collaboratively than alone To provide a platform to support and accelerate NMD translational research with opportunities for collaboration and cooperation To add value to the research aims of individual groups

4 4 TREAT-NMD development : Network funded by the European Union 2012 onwards: TREAT-NMD Alliance funded through multiple funding streams and with global partners Led by an elected Executive Committee Supported by academic advisory board ( task force ) of NMD leaders 3-year action plan of key areas where global collaboration is required ( New collaborations: International Rare Disease Research Consortium (IRDiRC), newly funded research projects (e.g. Neuromics, applying next-generation omics approaches to find new genes and therapies

5 5 TREAT-NMD Alliance Executive Committee 12 members, global representation (Europe, USA, Australia, Japan) Clinicians, researchers and patient representatives Chair: Hanns Lochmüller, UK; vice-chair: Annemieke Aartsma-Rus, NL

6 6 Tools for trial-readiness Not about individual research projects but about infrastructure Tool-building approach addresses areas that just wouldn t get considered in normal research projects o Patient registries o Outcome measures o Standardization of animal models o Global care consensus All areas where international consensus and collaboration is essential to make real progress

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9 9 Membership Form

10 10 TREAT-NMD Alliance Charter Ratified August 2012 TGDOC represented within the Alliance Charter

11 11 Secured funding for TREAT-NMD core (update) Name of funding source Details Length Date starting/ started Amount EAHC Operating Grant Infrastructure support for TREAT-NMD Alliance 1 year Jan ,000 AFM 2012 Call Support for TREAT-NMD Global registries 2 years End ,000 AFM 2012 Call Congenital Muscle Disease Preclinical Research Network 2 years End ,000 US Department of Defence Support for TACT 3 years Jan 2012 $317000

12 12 Registry Software Software developed by Munich, Germany has now been made freely available under a licence agreement Anyone can use the software to create a national registry Details of licence agreement still need to be worked out Some national and international registries have already been developed using the software - UK SMA Registry, UK DM Registry, Global FKRP Registry, German SMA, DMD and DM Registries Software is potentially too complex for the purposes of most national registries

13 13 Collaborative NMD and RD research projects facilitated by TREAT-NMD ( ) TREAT-NMD 10M EUR network of excellence for rare inherited neuromuscular diseases Neuromics 12M EUR research project on nextgenomics approaches to neuromuscular and neurodegenerative disease RD-Connect 12M EUR RD infrastructure: central global hub connecting registries, biobanks and clinical bioinformatics EUCERD Joint Action for Rare Disease Implementing RD policy and national plans across Europe NMD-Chip CARE-NMD Rare Bestpractices EuRenOmics High throughput sequencing (gene chips) for NMD diagnostics Implementing care standards for DMD across Europe, in particular Eastern Europe Infrastructure for best practice sharing across rare diseases 12M EUR research project on nextgenomics approaches to rare kidney disease BIO-NMD MRC Centre for NMD OPTIMISTIC SKIP-NMD Identifying and validating preclinical biomarkers for diagnostics and therapeutics First MRC translational research centre jointly with London Natural history and exercise therapy clinical study in myotonic dystrophy Clinical trial for antisense oligonucleotideexonskipping in DMD

14 14 IRDiRC the International Rare Disease Research Consortium Harmonised research funding initiative launched by the European Union and US NIH Goals: Diagnosis for all rare diseases and 200 new therapies for RD by 2020 Governed by Executive Committee made up of representatives from each member organisation Advised by 3 Science Committees (diagnostic, therapeutic, interdisciplinary), members selected by EC Working groups to be established, will recruit members from funded projects

15 15 Co-operation at international level to stimulate, better coordinate & maximise output of rare disease research efforts around the world Teams up public and private organisations investing in rare diseases research Research funders with relevant programmes >$10 million US over a 5-year period can join & work together Each organisation funds research its own way Funded projects adhere to a common framework

16 16 Current committed members (25) Europe (12) European Commission German Federal Ministry of Education and research Italian Higher Institute of Health Research Italian Telethon Foundation French Association against Myopathies French National Research Agency Netherlands Organisation for Health Research and Development Lysogene(FR) Prosensa(NL) Spanish Carlos III Health Institute UK National Institute for Health Research Shire (IE) Australia Western Australian Department of Health North America (12) Canadian Institutes for Health Research (CA) Genome Canada (CA) Sanford Research (US) Mendelian Disorders Genome Centres(US) National Centre for Translational Therapeutics (US) National Cancer Institute (US) National Institute of Neurological Disorders and Stroke (US) National Institute of Arthritis and Musculoskeletal and Skin Diseases (US) National Institute of Child Health and Human Development (US) National Eye Institute (US) Office of Rare Diseases (US) Food and Drug Administration (US)

17 17 Upcoming FP7 Projects (under IRDiRC) Title of Project Coordinator Health Call Objectives of Project Length Award Neuromics RD-Connect Support IRDiRC Olaf Reiss, Tübingen, Germany Hanns Lochmüller Newcastle UK Ségolène Aymé Paris France HEALTH B: Clinical utility of -Omics for better diagnosis of rare diseases HEALTH C: databases, biobanksand clinical bio-informatics hub for rare diseases A integrated European project on omicsresearch in rare neuromuscular and neurodegenerative diseases An integrated platform connecting registries, biobanksand clinical bioinformatics for rare disease research HEALTH A: Support for international Support for international rare disease research to rare disease research serve the IRDiRC objectives 4 years up to 12 million 6 years up to 12 million 6 years up to 2 million Volker Straub to discuss in more detail SKIP-NMD OPTIMISTIC RAREbestpractices Francesco Muntoni London UK Bazielvan Engelen Njimegen Netherlands Domenica Taruscio Rome Italy HEALTH Targeted nucleic acid delivery as an innovative therapeutic prophylactic approach HEALTH : Observational trials in rare disease Phase I/IIaclinical trial in Duchennemuscular dystrophy using systemically delivered morpholino antisense oligomerto skip exon 53 An observational prolonged trial in myotonicdystrophy type 1 to improve QoL standards, a target identification collaboration HEALTH : A platform for sharing best Best practice and practices for management of knowledge sharing in the rare diseases clinical management of rare diseases 3 years up to 5.58 million 3 years up to 3 million 4 years up to 3 million

18 18 Upcoming FP7 Projects RD Connect RD-CONNECT (HEALTH C) An integrated platform connecting databases, registries, biobanksand clinical bioinformatics for rare disease research Grant Agreement in preparation

19 19 Overarching objectives Contribution to the IRDiRCobjectives of delivering 200 new therapies for rare diseases and means to diagnose most rare diseases by the year 2020 The development of an integrated, qualityassured and comprehensive hub/platform in which complete clinical profiles are combined with -omicsdata and sample availability for rare disease research, in particular IRDiRCfunded research.

20 20 Specific objectives Harmonisation and development of common standards for databases and patient registries for RD (M18, 36) Harmonisation and development of common standards and a common catalogue for RD biobanksthat collect and provide standardised, quality controlled biomaterials for translational research (M12, 24) Development of a suit of clinical bioinformatics tools, including data mining and knowledge discovery tools for analysis and integration of molecular and clinical data to discover new disease genes, pathways and therapeutic targets(m24, 36) Development of an integrated platform to host the processed data from IRDiRC projects (M12, 36)

21 21 Specific objectives cont Development of best ethical practices for balancing patientrelated interest associated with RD research using databases/registries, biobanksand omicsdatabases, engaging with relevant stakeholders (M12, 36, 42) Development of a proposal for an expedient regulatory framework for linking medical and personal data related to RD on a EU/ global level (M18, 36) Ensuring access to project resultsand broader and global impact in science, diagnostics and translation including industrial collaborations (M12, 60)

22 22 Workpackage leaders WP1: Coordination WP2: Patient registries WP3: Biobanks WP4: Bioinformatics Hanns Lochmüller Newcastle and TREAT-NMD Domenica Taruscio ISS and EPIRARE Lucia Monaco Fondaz. Telethon & EuroBioBank Christophe Béroud INSERM Marseille WP5: Unified platform WP6 Ethical/legal/social WP7: Impact and innovation Ivo Gut CNAG Barcelona Mats Hansson Uppsala Kate Bushby Newcastle and EUCERD/ EJARD

23 23 PARTICIPANTS Coordinator UNEW Hanns Lochmuller 27 Full Partners 17 Associated Partners

24 24 Upcoming FP7 Projects OPTIMISTIC Observational Prolonged Trial In Myotonicdystrophy type 1 to Improve QoL-Standards, a Target Identification Collaboration Health : Observational trials in rare diseases. FP7-HEALTH-2012-INNOVATION-1 Coordinator: Bazielvan Engelen, Nijmegen, NL

25 25 Specific objectives To improve clinical practice of patients suffering from DM1 by studying the outcome of exercise training and cognitive behavioural therapy (CBT) on the quality of life in patients with DM1. To provide outcome measures that are relevant for the patients and have a rate of change that is appropriate for a clinical trial timeframe, and identify genetic factors and potential biomarkers that correlate with those measures.

26 26 Specific objectives cont Address scientific questions about the moderating and/or mediating factors of the short-term efficacy and maintenance of clinical response, and the short-term and long-term safety of the interventions. Disseminate the extension of knowledge acquired by the proposed studies to patients and their families, to medical professionals (provide and implement evidence-based clinical guidelines for better care of DM1 patients), and to relevant organisations (TREAT-NMD, Marigold, AFM), and to the wider neuromuscular community.

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28 28 Work Packages WP1: Cognitive behavioural therapy (Hans Knoop, RadboudUniversity, Netherlands) WP2: Exercise therapy (Mike Trennell, Newcastle University, UK) WP3: Clinical outcome measures, effectiveness and adverse events (Guillaume Bassez, Assistance Publique-Hospitaux de Paris, France) WP4: Cardiac involvement (Mike Trennell, Newcastle University, UK) WP5: Biomarkers and bioinformatics (Jeffrey Glennon, RadboudUniversity) WP6: MR muscle (Arend Heerschap, Radboud University) WP7: Genetic analyses (Darren Monckton, University of Glasgow, UK) WP8: Machine learning (Tom Heskes, Radboud University) WP9: Clinical trial coordination (Shaun Treweek, University of Dundee, UK) WP10: Dissemination, business development & ethics (Jeffrey Glennon, Radboud University) WP11: Project management (Concentris, Germany)

29 29 Upcoming FP7 Projects SKIP-NMD A Phase I/IIaclinical trial in Duchenne muscular dystrophy using systemically delivered morpholino antisense oligomer to skip exon 53. HEALTH : Targeted nucleic acid delivery as an innovative therapeutic or prophylactic approach. Coordinator: Francesco Muntoni

30 30 Objectives Finalise the lead PMO sequence to induce exon53 skipping and perform the required preclinical toxicology in an EU based industrial partner; Design and perform a randomised control clinical trial in 3 EU countries (UK, France and Italy) that addresses the safety, biochemical efficacy and exploratory clinical efficacy of the novel PMO AO to skip exon53

31 31 Objectives Validate novel outcome measures that for the first time will provide a continuous link between the ambulant and non-ambulant phases of the condition in DMD boys within the EU community. Assess the role of non-invasive biomarkers, such as muscle magnetic resonance imaging (MRI) and spectroscopy (MRS) and serum micro RNA (mirna) determination, in monitoring the response to therapeutic intervention, which will add commercial value to the EUbased SME community.

32 32 Work Packages WP1: Choice of a lead sequence (Royal Holloway, UK) WP2: Preclinical toxicology (Ricerce Biosciences, France) WP3: Trial design and Regulatory authority Submission (AVI/Sarepta, US) WP4: Clinical trial recruitment and execution (University College London, UK) WP5: A Natural History study of muscle MRI in DMD (Institut de Myologie, France) WP6: Parent organisation forum (Newcastle University, UK) WP7: Dissemination to the academic and parent organisations (University College London, UK) WP8: Project management and administration (University College London, UK)

33 33 Upcoming FP7 Projects RARE-bestpractices Platform for sharing best practices for management of rare diseases HEALTH : Best practice and knowledge sharing in the clinical management of rare diseases. FP7-HEALTH-2012-INNOVATION-1 Coordinator: Domenica Taruscio

34 34 Objectives To capitalize on existing BPs (guidelines, documents, etc.) To identify gaps in scientific knowledge (uncertainties), elaborating related research needs, and recommend relevant research initiatives To develop an international, innovative, efficient, effective framework to build consensus on methodology suitable for the development of BP guidelines for RDs to make them comparable and based on the best available evidence in order to enhance confidence in actions for RDs.

35 35 Objectives cont To provide training activities targeted to stakeholders to share expertise and knowledge and to contribute to a sustainable networking platform. To establish a forum for exchanging evidence and information, sharing lessons learnt, and facilitating international collaborations.

36 36 Work Package Leaders WP 1: Scientific coordination, networking, management (Leader: Domenica Taruscio, Istituto Superiore di Sanità, Italy) WP 2: Platform infrastructure (Leader: Jo Auld, Jamarau Ltd, UK) WP 3: Agree upon methodology for production of guidelines on clinical management of RDs (Leader: Thomas Sejersen, KarolinskaInstitute, Sweden) WP 4: Collection of BPs and research recommendations on RDs (Leader: Michele Hilton-Boone, Healthcare Improvement Scotland,UK) WP 5: RDs technologies and value assessment (Leader: PanosKanavos, London School of Economic, UK) WP 6: Dissemination (Leader: Domenica Taruscio, Istituto Superiore di Sanità, Italy)

37 37 FP7 Projects already implemented EUCERD Joint Action for Rare Diseases Funded from 1st March 2012 to 30th September 2015 through Second Health Programme (EAHC/DG SANCO) The EJA will comprise five main areas of work: o the implementation of plans and strategies for rare diseases at national level o the standardization of rare disease nomenclature at international level o mapping the provision of specialisedsocial services and integration of rare diseases into mainstream social policies and services o the leveraging of the value of EU networking for improving the quality of care for rare diseases o the integration of rare disease initiatives across thematic areas and across MS

38 38 Thank you to all curators and OC members! We need to take a new photograph today!