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      ‘IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

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          Abstract

          The International Rare Diseases Research Consortium (IRDiRC) has created a quality label, ‘IRDiRC Recognized Resources', formerly known as ‘IRDiRC Recommended'. It is a peer-reviewed quality indicator process established based on the IRDiRC Policies and Guidelines to designate resources (ie, standards, guidelines, tools, and platforms) designed to accelerate the pace of discoveries and translation into clinical applications for the rare disease (RD) research community. In its first year of implementation, 13 resources successfully applied for this designation, each focused on key areas essential to IRDiRC objectives and to the field of RD research more broadly. These included data sharing for discovery, knowledge organisation and ontologies, networking patient registries, and therapeutic development. ‘IRDiRC Recognized Resources' is a mechanism aimed to provide community-approved contributions to RD research higher visibility, and encourage researchers to adopt recognised standards, guidelines, tools, and platforms that facilitate research advances guided by the principles of interoperability and sharing.

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          Enhancing translation: guidelines for standard pre-clinical experiments in mdx mice.

          Duchenne Muscular Dystrophy is an X-linked disorder that affects boys and leads to muscle wasting and death due to cardiac involvement and respiratory complications. The cause is the absence of dystrophin, a large structural protein indispensable for muscle cell function and viability. The mdx mouse has become the standard animal model for pre-clinical evaluation of potential therapeutic treatments. Recent years have seen a rapid increase in the number of experimental compounds being evaluated in the mdx mouse. There is, however, much variability in the design of these pre-clinical experimental studies. This has made it difficult to interpret and compare published data from different laboratories and to evaluate the potential of a treatment for application to patients. The authors therefore propose the introduction of a standard study design for the mdx mouse model. Several aspects, including animal care, sampling times and choice of tissues, as well as recommended endpoints and methodologies are addressed and, for each aspect, a standard procedure is proposed. Testing of all new molecules/drugs using a widely accepted and agreed upon standard experimental protocol would greatly improve the power of pre-clinical experimentations and help identifying promising therapies for the translation into clinical trials for boys with Duchenne Muscular Dystrophy. Copyright © 2011 Elsevier B.V. All rights reserved.
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            The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases

            Background Rare diseases pose many research challenges specific to their scarcity. Advances in potential therapies have made it more important than ever to be able to adequately identify not only patients with particular genotypes (via patient registries) but also the medical professionals who provide care for them at particular specialist centres of expertise and who may be competent to participate in trials. Work within the neuromuscular field provides an example of how this may be achieved. Methods This paper describes the development of the TREAT-NMD Care and Trial Site Registry (CTSR), an initiative of an EU-funded Network of Excellence, and its utility in providing an infrastructure for clinical trial feasibility, recruitment, and other studies. Results 285 CTSR-registered centres, reporting 35,495 neuromuscular patients, are described alongside an analysis of their provision for DMD. Site characteristics vary by country: the average number of DMD patients seen per site in the United States (96) is more than in Germany (25), and paediatric/adult breakdown is also markedly distinct. Over 70% of sites have previous trial experience, with a majority including a Clinical Trials Unit. Most sites also have MLPA diagnostic capability and access to a range of medical specialists. However, in the three countries reporting most sites (US, the UK and Germany), few had access to all core DMD specialists internally. Over 60% of sites did not report any form of transition arrangement. Conclusions Registries of care and trial sites have significant utility for research into rare conditions such as neuromuscular diseases, demonstrated by the significant engagement by industry and other researchers with the CTSR. We suggest that this approach may be applicable to other fields needing to identify centres of expertise with the potential to carry out clinical research and engage in clinical trials. Such registries also lend themselves to the developing context of European Reference Networks (ERNs), which seek to build networks of centres of expertise which fit specific criteria, and which may themselves aid the sustainability of such registries. This is particularly the case given the utility of registries such as the CTSR in enabling networks of best-practice care centres.
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              The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development

              Despite multiple publications on potential therapies for neuromuscular diseases (NMD) in cell and animal models only a handful reach clinical trials. The ability to prioritise drug development according to objective criteria is particularly critical in rare diseases with large unmet needs and a limited numbers of patients who can be enrolled into clinical trials. TREAT-NMD Advisory Committee for Therapeutics (TACT) was established to provide independent and objective guidance on the preclinical and development pathway of potential therapies (whether novel or repurposed) for NMD. We present our experience in the establishment and operation of the TACT. TACT provides a unique resource of recognized experts from multiple disciplines. The goal of each TACT review is to help the sponsor to position the candidate compound along a realistic and well-informed plan to clinical trials, and eventual registration. The reviews and subsequent recommendations are focused on generating meaningful and rigorous data that can enable clear go/no-go decisions and facilitate longer term funding or partnering opportunities. The review process thereby acts to comment on viability, de-risking the process of proceeding on a development programme. To date TACT has held 10 review meeting and reviewed 29 program applications in several rare neuromuscular diseases: Of the 29 programs reviewed, 19 were from industry and 10 were from academia; 15 were for novel compounds and 14 were for repurposed drugs; 16 were small molecules and 13 were biologics; 14 were preclinical stage applications and 15 were clinical stage applications. 3 had received Orphan drug designation from European Medicines Agency and 3 from Food and Drug Administration. A number of recurrent themes emerged over the course of the reviews and we found that applicants frequently require advice and education on issues concerned with preclinical standard operating procedures, interactions with regulatory agencies, formulation, repurposing, clinical trial design, manufacturing and ethics. Over the 5 years since its establishment TACT has amassed a body of experience that can be extrapolated to other groups of rare diseases to improve the community’s chances of successfully bringing new rare disease drugs to registration and ultimately to market.
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                Author and article information

                Journal
                Eur J Hum Genet
                Eur. J. Hum. Genet
                European Journal of Human Genetics
                Nature Publishing Group
                1018-4813
                1476-5438
                February 2017
                26 October 2016
                1 February 2017
                : 25
                : 2
                : 162-165
                Affiliations
                [1 ]Institute of Genetic Medicine, Newcastle University , Newcastle upon Tyne, UK
                [2 ]European Organisation for Rare Diseases (EURORDIS) , Paris, France
                [3 ]IRDiRC Scientific Secretariat, Inserm US 14 , Paris, France
                [4 ]Genetic Services of Western Australia, King Edward Memorial Hospital , Perth, Western Australia, Australia
                [5 ]Western Australian Register of Developmental Anomalies , Perth, Western Australia, Australia
                [6 ]National Center for Advancing Translational Sciences, National Institutes of Health , Bethesda, Maryland, USA
                [7 ]Department of Biology, McGill University , Montreal, Quebec, Canada
                [8 ]Department of Health, Office of Population Health Genomics, Public Health Division, Government of Western Australia , Perth, Western Australia, Australia
                [9 ]Department of Genetics, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa , Ottawa, Ontario, Canada
                Author notes
                [* ]Department of Genetics, Children's Hospital of Eastern Ontario Research Institute , 401 Smyth Road, Ottawa, ON K1H 8L1, Canada. Tel: +1 613 737 7600 ext 4139; Fax: +1 613 738 4822; E-mail: kboycott@ 123456cheo.on.ca
                Article
                ejhg2016137
                10.1038/ejhg.2016.137
                5255942
                27782107
                90eb9eec-42e0-4b71-977d-5cac2b514fc2
                Copyright © 2016 The Author(s)

                This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

                History
                : 31 August 2016
                : 06 September 2016
                Categories
                Policy

                Genetics
                Genetics

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