Dystonia consists of involuntary movements, abnormal posturing and pain. In adults, dystonia symptoms present in a particular region of the body and cause significant disability due to pain as well as impairment in activities of daily living and employment. The most common subtypes begin in adults, in a specific body region. Involvement of neck muscles (cervical dystonia) leads to abnormal head movements that make it difficult to hold the head still for basic activities such as reading, driving, or working on the computer. Involvement of the eye region (blepharospasm) is associated with spasms that prevent patients from seeing normally. Involvement of the larynx (laryngeal dystonia) with spasm of laryngeal muscles leads to difficulty speaking. The current gold standard treatment, botulinum toxin (BoNT), has limitations?painful, frequent injections due to ?wearing off? of treatment effect; expense; and expected side effects like swallowing difficulty and weakness. There is a clear therapeutic gap in our current treatment options for focal dystonia and also a clear need for an effective novel treatment. Testing any novel treatment is complicated because most adults with focal dystonia are treated with BoNT. This proposal will develop an app-based patient-reported outcome (PRO) measure to prepare for future clinical trials in the most common types of dystonia as noted above. This app-based PRO will measure changes in dystonia symptoms over a BoNT injection cycle to characterize individual temporal responses and to determine effect estimates for future trials. Finally, the PRO will be correlated with standard clinical rating scales currently in use. Successful completion of this project will lead to better clinical trial readiness in dystonia.
| Scorr, Laura M; Silver, Michael R; Hanfelt, John et al. (2018) Pilot Single-Blind Trial of AbobotulinumtoxinA in Oromandibular Dystonia. Neurotherapeutics 15:452-458 |
| Morris, Aimee E; Norris, Scott A; Perlmutter, Joel S et al. (2018) Quantitative, clinically relevant acoustic measurements of focal embouchure dystonia. Mov Disord 33:449-458 |
| Jinnah, H A; Hess, Ellen J (2018) Evolving concepts in the pathogenesis of dystonia. Parkinsonism Relat Disord 46 Suppl 1:S62-S65 |
| Cotton, Adam C; Bell, R B; Jinnah, H A (2018) Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example. JIMD Rep 41:25-27 |
| Jinnah, H A; Comella, Cynthia L; Perlmutter, Joel et al. (2018) Longitudinal studies of botulinum toxin in cervical dystonia: Why do patients discontinue therapy? Toxicon 147:89-95 |
| Jinnah, H A; Albanese, Alberto; Bhatia, Kailash P et al. (2018) Treatable inherited rare movement disorders. Mov Disord 33:21-35 |
| Shi, Lucy L; Simpson, C Blake; Hapner, Edie R et al. (2018) Pharyngeal Dystonia Mimicking Spasmodic Dysphonia. J Voice 32:234-238 |
| Liu, Hui; Jin, Hongjun; Luo, Zonghua et al. (2018) In Vivo Characterization of Two 18F-Labeled PDE10A PET Radioligands in Nonhuman Primate Brains. ACS Chem Neurosci 9:1066-1073 |
| Li, Zhihao; Prudente, Cecília N; Stilla, Randall et al. (2017) Alterations of resting-state fMRI measurements in individuals with cervical dystonia. Hum Brain Mapp 38:4098-4108 |
| Jinnah, H A; Alterman, Ron; Klein, Christine et al. (2017) Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing. J Neural Transm (Vienna) 124:417-430 |
Showing the most recent 10 out of 110 publications
