Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data?

Muscular Dystrophy Association (V.A.C., J.M.W.), Tucson, AZ
Neurology (Impact Factor: 8.3). 02/2013; 80(6):583-9. DOI: 10.1212/WNL.0b013e318282334e
Source: PubMed

ABSTRACT To review current approaches for obtaining patient data in Duchenne muscular dystrophy (DMD) and consider how monitoring and comparing outcome measures across DMD clinics could facilitate standardized and improved patient care.
We reviewed annual standardized data from cystic fibrosis (CF) clinics and DMD care guidelines and consensus statements; compared current approaches to obtain DMD patient data and outcome measures; and considered the best method for implementing public reporting of outcomes, to drive improvements in health care delivery.
Current methods to monitor DMD patient information (MD STARnet, DuchenneConnect, and TREAT-NMD) do not yet provide patients with comparative outcome data. The CF patient registry allows for reporting of standard outcomes across clinics and is associated with improved CF outcomes. A similar patient registry is under development for the Muscular Dystrophy Association (MDA) clinic network. Suggested metrics for quality care include molecular diagnosis, ambulatory status and age at loss of ambulation, age requiring ventilator support, and survival.
CF longevity has increased by almost 33% from 1986 to 2010, in part due to a CF patient registry that has been stratified by individual care centers since 1999, and publically available since 2006. Implementation of outcome reporting for MDA clinics might promote a similar benefit to patients with DMD.

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    • "Whilst mindful of the differences between neuromuscular care requirements and those for CF, this may be a fruitful area for further investigation. Such an approach has recently been advocated for DMD patient registries by Scully et al.[23]. "
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    ABSTRACT: 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. 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. 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. 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.
    Orphanet Journal of Rare Diseases 10/2013; 8(1):171. DOI:10.1186/1750-1172-8-171 · 3.96 Impact Factor
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    • "Overwhelmingly, registries reported their efforts to publish in scientific journals and communication at scientific meeting as being as " often as possible " with several publications linked directly to TREAT-NMD. Examples of publications that cite TREAT-NMD include [Griggs et al., 2013; Nakamura et al., 2013; Hollingsworth et al., 2012; Nakamura et al., 2011; Scully et al., 2013; Straub et al., 22] "
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    ABSTRACT: Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. While many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence < 5/10,000). Even the largest countries do not have enough affected patients to rigorously assess novel therapies, unravel genetic complexities, and determine patient outcomes. TREAT-NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients. The harmonized implementation of national and ultimately, global patient registries has been central to the success of TREAT-NMD. For the DMD registries within TREAT-NMD, individual countries have chosen to collect patient information in the form of standardised patient registries to increase the overall patient population on which clinical outcomes and new technologies can be assessed. The registries comprise more than 13,500 patients from 31 different countries. Here we describe how the TREAT-NMD national patient registries for DMD were established. We look at their continued growth and assess how successful they have been at fostering collaboration between academia, patient organisations and industry. This article is protected by copyright. All rights reserved.
    Human Mutation 08/2013; 34(11). DOI:10.1002/humu.22390 · 5.05 Impact Factor
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    ABSTRACT: In 2004 a Cochrane review and AAN practice parameter concluded that prednisone 0.75 mg/kg/d is of short-term efficacy in Duchenne muscular dystrophy (DMD). Subsequent efforts to standardize care for DMD found wide variation in corticosteroid use. Methods: We surveyed physicians who follow patients with DMD: (1) Clinics in the TREAT-NMD (Translational Research in Europe - Assessment and Treatment of Neuromuscular Diseases) network (predominantly Europe); (2) US MDA clinic directors. We also documented the co-administered corticosteroids in a trial of a putative treatment (ataluren) for DMD. Results: Of 105 Treat-NMD clinicians, corticosteroids were not used in 10 clinics and 29 different regimens were used --- the most frequent 0.75 mg/kg/d prednisone (61 centers); 10 days on/10 days off (36 centers); 0.9 mg/kg/d deflazacort (32 centers); and 5 mg/kg/d weekends (10 centers). Similar diversity was identified in MDA clinics and in the ataluren trial. Conclusion: Variability in corticosteroid use suggests uncertainty about risks/benefits of corticosteroid regimens for DMD. © 2013 Wiley Periodicals, Inc.
    Muscle & Nerve 07/2013; 48(1). DOI:10.1002/mus.23831 · 2.31 Impact Factor
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