Erika F. Augustine

Erika F. Augustine is an Associate Chief Science Officer and Director of the Clinical Trials Unit at Kennedy Krieger Institute. She was previously an Associate Professor of Neurology and Pediatrics at the University of Rochester Medical Center in Rochester, New York. Augustine co-directed the University of Rochester Batten Center, and was the associate director of both the Center for Health and Technology and the Udall Center of Excellence in Parkinson's Disease Research. Augustine's clinical research and medical practice specialize in pediatric movement disorders. She leads clinical trials for Batten diseases, a group of rare pediatric neurodegenerative disorders, and she has developed a novel telemedicine model to increase the efficacy of remote care for patients with rare diseases.

Early life and education Augustine pursued her undergraduate education at Harvard University. She majored in Biological Anthropology and graduated with a Bachelor of Arts in 1999. She obtained her MD in 2003, and then moved back to Boston to pursue her residency training at the Boston Children's Hospital. In 2008, she completed her residency training in Pediatrics and Child Neurology and then moved back to Rochester for her Fellowships. In 2018, URMC was selected by the National Institutes of Health to house the Morris K. Udall Center of Excellence in Parkinson's Disease Research and Augustine became a member of the executive committee, specifically the associate director of the center, where she serves as a principal investigator on FDA funded clinical trials.

Outside of URMC, Augustine is a member of the National Institutes of Health Taskforce on Childhood Motor Disorders. She also organizes and oversees the Minority Research Scholars Program through the CNCDP-K12 which provides travels awards to individuals to attend the Neurobiology of Disease in Children Symposium and the Child Neurology Society Annual Meeting. Augustine is also a member of NeuroNEXT, a network distributed across institutions and funded by the National Institutes of Neurological Disorders to focus on expediting the development of therapies for neurological disorders. and she has also been a panelist on Second Opinion TV. Her work has helped to elucidate the distinct characteristics of juvenile NCLs, in that they do not show myoclonic seizures to the same extent as other subsets of NCLs. This work is critical since patients often have to travel from far distances to seek specialized treatment for NCLs, so remote data and disease monitoring would greatly enhance the quality of care and treatment. Data shows that inflammation and autoimmunity are characteristic of NCLs, so Augustine tested mycophenolate on patients with NCL, an immunosuppressant, to first see how short term administration was tolerated. Using live video, patients are assessed by trained examiners, and they found that this method works well to diagnose disease severity in patients with Batten Diseases. Her model includes the use of telehealth to remove geographic barriers to healthcare access while also enhancing for data collection and patient-provider-researcher communication. Anecdotal evidence from parents had suggested that females experience increased severity of Batten Disease symptoms, so Augustine sought to explore this further. She has found that, overall, men and women do not exhibit differences in clinical motor impairment in the early course of the disease. 2017 A. B. Baker Teaching Recognition, American Academy of Neurology 2018 Robert J. Joynt Endowed Professorship in Experimental Therapeutics of Neurology

Select publications

Adams HR, Defendorf S, Vierhile A, Mink JW, Marshall FJ, Augustine EF. A novel, hybrid, single- and multi-site clinical trial design for CLN3 disease, an ultra-rare lysosomal storage disorder. Clin Trials. 2019;16(5):555‐560. doi:10.1177/1740774519855715 Augustine EF, Beck CA, Adams HR, et al. Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis). JIMD Rep. 2019;43:117‐124. doi:10.1007/8904_2018_113 Augustine EF, Adams HR, Bitsko RH, et al. Design of a Multisite Study Assessing the Impact of Tic Disorders on Individuals, Families, and Communities. Pediatr Neurol. 2017;68:49‐58.e3. doi:10.1016/j.pediatrneurol.2016.10.017 Papandreou A, Schneider RB, Augustine EF, et al. Delineation of the movement disorders associated with FOXG1 mutations. Neurology. 2016;86(19):1794‐1800. doi:10.1212/WNL.0000000000002585 Augustine EF, Pérez A, Dhall R, et al. Sex Differences in Clinical Features of Early, Treated Parkinson's Disease. PLOS One. 2015;10(7):e0133002. Published 2015 Jul 14. doi:10.1371/journal.pone.0133002 Augustine EF, Adams HR, Beck CA, et al. Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis. Dev Med Child Neurol. 2015;57(4):366‐371. doi:10.1111/dmcn.12634 Augustine EF, Adams HR, Mink JW. Clinical trials in rare disease: challenges and opportunities. J Child Neurol. 2013;28(9):1142‐1150. doi:10.1177/0883073813495959 Cialone J, Adams H, Augustine EF, et al. Females experience a more severe disease course in Batten disease [published correction appears in J Inherit Metab Dis. 2012 May;35(3):559]. J Inherit Metab Dis. 2012;35(3):549‐555. doi:10.1007/s10545-011-9421-6 Cialone J, Augustine EF, Newhouse N, Vierhile A, Marshall FJ, Mink JW. Quantitative telemedicine ratings in Batten disease: implications for rare disease research. Neurology. 2011;77(20):1808‐1811. doi:10.1212/WNL.0b013e3182377e29