Article

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.

0 Followers
 · 
79 Views
  • [Show abstract] [Hide abstract]
    ABSTRACT: Clinical registries and biorepositories have proven extremely useful in many studies of diseases, especially rare diseases. Given their rarity and diversity, the idiopathic inflammatory myopathies, or myositis syndromes, have benefited from individual researchers' collections of cohorts of patients. Major efforts are being made to establish large registries and biorepositories that will allow many additional studies to be performed that were not possible before. Here, we describe the registries developed by investigators and patient support groups that are currently available for collaborative research purposes.
    Current Opinion in Rheumatology 09/2014; 26(6). DOI:10.1097/BOR.0000000000000119 · 5.07 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Many neuromuscular disorders require complex multisystem management. This is especially true for the rapidly growing numbers of young adults surviving congenital and childhood onset conditions following improved multidisciplinary care and the routine use of home ventilation. Surveys from the United Kingdom and Netherlands indicate that neuromuscular disorder patients report their services to be at best 'average' and more often 'poor' in quality. Centralization of care to a small number of specialist centres to increase critical mass and thus improve the expertise of clinical teams has been recommended.
    Current Opinion in Neurology 10/2014; 27(5):607-613. DOI:10.1097/WCO.0000000000000132 · 5.73 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Congenital neuromuscular disorders, such as Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), and Pompe disease (acid maltase deficiency, AMD) are candidates for universal newborn screening (NBS). In this paper, we discuss the future path of NBS for these disorders with particular emphasis on DMD-NBS, because of the likely approval of new gene modifying treatments, the possible benefits of earlier treatment with corticosteroids, and the recently demonstrated feasibility of a two tiered approach to NBS with screening by creatine kinase (CK) levels in dried blood spots followed by mutation detection in those with elevated CK.The cystic fibrosis newborn screening (CF-NBS) program is a successful model for NBS. Cystic fibrosis (CF) outcomes have consistently improved into adulthood following introduction of CF-NBS because considerable resources have been devoted to practices that include: attention to improving laboratory screening; consistent confirmatory testing and immediate referral of all newly diagnosed infants to designated CF care centers that follow established practice guidelines; and, ongoing evaluation of CF care centers via a centralized clinical database.Like CF, DMD, SMA, and infantile AMD are inexorably debilitating and require lifetime multidisciplinary clinical management. NBS would address the delays in diagnosis that prevent patients from receiving timely treatments. Standardized care following early diagnosis would reduce disparities in clinical care and outcomes. NBS in these neuromuscular disorders should be implemented, utilizing lessons learned from the past 20 years of CF-NBS: standardized protocols for all patients identified by DMD-NBS; longitudinal follow-up in multidisciplinary clinics; and coordinated oversight of these clinics. This article is protected by copyright. All rights reserved.
    Annals of Neurology 11/2014; 77(2). DOI:10.1002/ana.24316 · 11.91 Impact Factor