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Highlights of the MDA U.S. Neuromuscular Disease Registry (2013-2016)

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Highlights of the MDA U.S. Neuromuscular Disease Registry (2013-2016) Highlights of the MDA U.S. Neuromuscular Disease Registry (2013-2016) Muscular Dystrophy Association • mda.org Table of Contents Overview . 3 Registry Goals for Pilot Phase . .4 Participating MDA Care Centers . 5 Introduction to the Registry . .7 ALS . 10 SMA . 15 DMD and BMD . 19 Community Impact . .24 2 Highlights of the MDA U.S. Neuromuscular Disease Registry Registry Overview In 2013, MDA launched the U.S. Neuromuscular Disease Registry (the “registry”) for four diseases — amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) — in 26 Care Centers in diverse locations throughout the United States. The registry captures clinical information on a subset (approximately 2,700) of the more than 100,000 individuals with neuromuscular diseases who are registered with MDA. The four diseases, ALS, SMA, DMD and BMD, were chosen for this pilot project because at the time of the pilot launch, there were multiple experimental therapies in development for them and because national working groups of clinical and research specialists already had identified and standardized much of the information that is important to collect in clinical trials. In addition, formal “standards of care” for individuals with these diseases already were defined, providing a unique opportunity to demonstrate how a registry could be used to measure the implementation of these care standards and their impact on patient outcomes. The registry collects a wide range of clinical data from individuals seen in MDA Care Centers including diagnostic tests, clinical measures and interventions. MDA’s registry is a clinician-entered database, which means information is typically entered or uploaded by the physician or a study coordinator, as opposed to data being entered by individual patients and/or their caregivers or families. Participation in the registry is voluntary. An independent committee called an Institutional Review Board (IRB) protects the rights and welfare of participants involved in the registry and ensures all research conducted is held to the highest ethical standards. Data from the registry used for research purposes is de-identified, meaning that the identity of the individuals enrolled in the registry is protected and not able to be connected to the clinical data. MDA’s intent in establishing the registry is to optimize the clinical management of individuals with neuromuscular diseases in order to improve survival and quality of life, and to help advance drug development for these diseases. What is a registry? A registry is a database of information — typically about individuals diagnosed with a specific disease or condition — that enables tracking or measuring of any number of health-related or quality-of-life outcomes. As the only organization in the neuromuscular disease field that supports multiple neuromuscular diseases and maintains a nationwide network of more than 150 Care Centers providing multidisciplinary care to more than 50,000 individuals annually — MDA is uniquely positioned to establish a neuromuscular disease registry. 3 Highlights of the MDA U.S. Neuromuscular Disease Registry Return to Table of Contents Registry Goals for the Pilot Phase Gain a better understanding of the course of illness for specific neuromuscular diseases. Collect data about genotype-phenotype correlations to allow for better prediction of disease progression based on genetic information. Collect longitudinal patient data that will allow benchmarking of best clinical practices. Use registry data as a platform to develop and implement a clinical quality improvement program for MDA Care Centers across the country. Provide outcome-related information about MDA Care Centers for families seeking medical care. Establish a database of individuals eligible for clinical trials in neuromuscular diseases to ease the burden of clinical trial recruitment and accelerate drug development. *The above goals were set out for the pilot phase of the registry. These goals may be amended as the pilot phase concludes and the registry is evaluated further. We are deeply grateful to all who have contributed to launching the MDA registry, especially the individuals living with ALS, SMA, BMD and DMD, the health care professionals who have entered data, and the MDA Registry Advisory Board and Clinical Advisory Committee for their insight and guidance. 4 Highlights of the MDA U.S. Neuromuscular Disease Registry Return to Table of Contents Clinical Advisory Participating Pilot MDA Care Centers Committee Ann & Robert H. Lurie Children’s Hospital of Chicago (Chicago, Ill.) Yaacov Anziska, M.D. California Pacific Medical Center (San Francisco, Calif.) Susan Apkon, M.D. Carolinas Medical Center (Charlotte, N.C.) Jan Bonner Children’s Healthcare of Atlanta at Scottish Rite (Atlanta, Ga.) Joline Dalton, CGC Children’s Hospital Colorado (Aurora, Colo.) Richard Finkel, M.D. Children’s Hospital of Philadelphia (Philadelphia, Pa.) Daragh Heitzman, M.D. Children’s Medical Center of Dallas (Dallas, Texas) Neil Holland, M.D. Columbia University Medical Center (New York, N.Y.) Tomas Holmlund, M.D. Gillette Children’s Specialty Healthcare (St. Paul, Minn.) Irwin Jacobs, M.D. Hospital for Special Care (New Britain, Conn.) Wendy King, PT Le Bonheur Children’s Hospital (Memphis, Tenn.) John Kissel, M.D. Massachusetts General Hospital (Boston, Mass.) Katherine Mathews, M.D. Methodist Neurological Institute (Houston, Texas) Dennis Matthews, M.D. MetroHealth Medical Center (Cleveland, Ohio) Tahseen Mozaffar, M.D. Monmouth Medical Center (Long Branch, N.J.) Jeffrey Rothstein, M.D., Ph.D. Nationwide Children’s Hospital (Columbus, Ohio) Barry Russman, M.D. Nemours Children’s Hospital (Orlando, Fla.) Ericka Simpson, M.D. Ohio State University Wexner Medical Center (Columbus, Ohio) Jonathan Strober, M.D. Rady Children’s Hospital — San Diego (San Diego, Calif.) Shriners Hospital for Children — Portland (Portland, Ore.) Registry Advisory Texas Neurology P.A. (Dallas, Texas) Board UCSF Benioff Children’s Hospital (San Francisco, Calif.) Alan Beggs, Ph.D. UCSF Fresno (Fresno, Calif.) Joshua Benditt, M.D. University of Michigan (Ann Arbor, Mich.) James Berry, M.D. University of Minnesota (Minneapolis, Minn.) Julie Bolen, Ph.D., MPH Wesley Neurology Clinic (Cordova, Tenn.) Thomas Crawford, M.D. Kevin Flanigan, M.D. Amelie Gubitz, Ph.D. Eric Hoffman, Ph.D. Emily Munson, Esq. John Porter, Ph.D. Rachel Richesson, Ph.D., MPH Jeffrey Rosenfeld, M.D., Ph.D. Carly Siskind, M.S., CGC 5 Highlights of the MDA U.S. Neuromuscular Disease Registry Return to Table of Contents Use of the Registry Data to Support Research MDA invites researchers to use the registry data to accelerate improvements in drug development and health services research. Requests for access to de-identified data are welcomed from academic investigators, clinicians and industry. Requests are reviewed internally by MDA and the Registry Advisory Board, both of which are eager to support research proposals that show promise to advance our understanding and treatment of neuromuscular diseases. Publication and presentation of results from the analyses of MDA registry data are encouraged. MDA prohibits the use of registry data for marketing purposes related to the purchase or use of medical products. Please email [email protected] to receive a Request for Data Access Form and the Data and Publication Guidelines. MDA Care Centers MDA provides care for children and adults from day one through our network of more than 150 MDA Care Centers across the United States and Puerto Rico. These multidisciplinary clinics, located at leading hospitals and health care institutions, bring health care specialists from a variety of disciplines together so that families can receive the care they need in one place. To ensure the best possible health outcomes for families, MDA supports the Care Centers through funding grants with the goal to strengthen and expand multidisciplinary care, which is proven to improve and prolong life. 6 Highlights of the MDA U.S. Neuromuscular Disease Registry Return to Table of Contents Introduction to the MDA Registry The registry contains information on individuals with ALS, SMA, DMD and BMD who received care at select MDA Care Centers between 2013 and 2016. As of September 2016, there was a total of 2,685 individuals enrolled in the registry. Individuals Enrolled in the Registry SMA 11% DMD/BMD ALS 33% 56% 7 Highlights of the MDA U.S. Neuromuscular Disease Registry Return to Table of Contents Age and Sex Distribution Male Female ALS There are more males with ALS than females 0-39 enrolled in the registry, consistent with the knowledge that ALS strikes men slightly 40-49 more often than women. 50-59 60-69 Age (Years) 70-79 80+ Number of Individuals *Age unspecified for 2; Sex unspecified for 1 SMA The most common forms of SMA are typically 0-9 diagnosed during the infant, toddler or early childhood years, while less severe forms 10-19 may not present until later in childhood or even adulthood. 20-29 Age (Years) 30-39 40+ Number of Individuals DMD/BMD DMD and BMD are diseases caused by 0-9 alterations in the DMD gene found on the X chromosome. The DMD gene encodes a dystrophin 10-19 protein called . DMD and BMD affect males, although females can be “carriers” who have a normal DMD 20-29 gene on one X chromosome and an abnormal DMD gene on the other X chromosome. Most Age (Years) 30-39 female carriers do not have signs or symptoms of DMD or BMD. 40+ Number of Individuals
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