Myotonic dystrophy is the most common adult muscular dystrophy in the world. Despite an emergent need, no disease-specific, quality-of-life instrument has ever been developed for this population. If funded, this K-23 application will address this need while providing the ideal environment for Dr. Heatwole to complete his training enroute to becoming an independent researcher of novel evaluation techniques and experimental therapeutics for muscle diseases. Specifically, it is our goal to: 1) Identify the symptomatic and functional areas most relevant to myotonic dystrophy type-1 patients;2) Develop a question set capable of measuring these domains;3) Test the responsiveness of this question set in a longitudinal study;4) Utilize item response theory and advanced statistical methods to develop a responsive and reproducible instrument from this question set;5) Incorporate this instrument into one current and two planned clinical trials of myotonic dystrophy patients;and 6) Develop additional disease-specific instruments for facioscapulohumeral muscular dystrophy and the more recently described myotonic dystrophy type-2. We hypothesize that this project will positively shape public health by enabling researchers to measure treatment responses in myotonic dystrophy via a valid, efficient set of disease-specific questions. In addition, through these projects, we plan to lay the methodological and technical framework needed for the development of additional disease-specific instruments for muscular disorders. The mentored clinical investigator career development award in muscle disease research provides the ideal medium for Dr. Heatwole to become an independent neuromuscular researcher and authority on instruments of quality-of-life. Dr. Heatwole's career development will be facilitated by: 1) An expert multidisciplinary mentorship team;2) Scientific didactic lectures and workshops leading to a Master of Science in Clinical Investigation;and 3) By direct access to the Clinical and Translational Science Institute's facilities designed specifically to conduct and promote clinical research. By the end of the K-23 funding period it is Dr. Heatwole's explicit plan to have a nationally recognized laboratory established in both myotonic dystrophy experimental therapeutics and muscle disease quality-of-life instrumentation.

National Institute of Health (NIH)
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Mentored Patient-Oriented Research Career Development Award (K23)
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Arthritis and Musculoskeletal and Skin Diseases Special Grants Review Committee (AMS)
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Boyce, Amanda T
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University of Rochester
Schools of Dentistry
United States
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Heatwole, Chad; Bode, Rita; Johnson, Nicholas E et al. (2016) Myotonic dystrophy health index: Correlations with clinical tests and patient function. Muscle Nerve 53:183-90
Heatwole, Chad; Johnson, Nicholas; Bode, Rita et al. (2015) Patient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2). Neurology 85:2136-46
Johnson, Nicholas E; Luebbe, Elizabeth; Eastwood, Eileen et al. (2014) The impact of congenital and childhood myotonic dystrophy on quality of life: a qualitative study of associated symptoms. J Child Neurol 29:983-6
Heatwole, Chad; Bode, Rita; Johnson, Nicholas et al. (2014) Myotonic Dystrophy Health Index: initial evaluation of a disease-specific outcome measure. Muscle Nerve 49:906-14
Statland, Jeffrey M; McDermott, Michael P; Heatwole, Chad et al. (2013) Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy. Neuromuscul Disord 23:306-12
Johnson, Nicholas E; Heatwole, Chad R; Ferguson, Michele et al. (2013) Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A. J Clin Neuromuscul Dis 15:19-23
Heatwole, Chad R; Statland, Jeffrey M; Logigian, Eric L (2013) The diagnosis and treatment of myotonic disorders. Muscle Nerve 47:632-48
Heatwole, Chad; Bode, Rita; Johnson, Nicholas et al. (2012) Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1). Neurology 79:348-57
Johnson, Nicholas E; Quinn, Christine; Eastwood, Eileen et al. (2012) Patient-identified disease burden in facioscapulohumeral muscular dystrophy. Muscle Nerve 46:951-3
Heatwole, Chad; Johnson, Nicholas; Goldberg, Bradley et al. (2011) Laboratory abnormalities in patients with myotonic dystrophy type 2. Arch Neurol 68:1180-4

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