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Jncl augustine

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Jncl augustine

  1. 1. What happens at each study visit? Interview Examination Blood tests JUvenile NCL Mycophenolate Phase II Clinical Trial (JUMP) EF Augustine, HR Adams, JW Mink, A Vierhile, S Defendorf, FJ Marshall University of Rochester Batten Center, Rochester, New York, erika_augustine@urmc.rochester.edu Current treatments for Juvenile Neuronal Ceroid Lipofuscinosis (JNCL; CLN3 disease) help manage some symptoms, but do not change the overall course of the disease. New treatments are needed. We are conducting a phase II trial of mycophenolate mofetil (CellCept) in children with JNCL. Goals of the trial 1)To understand whether CellCept is safe when given to children with JNCL for a short period of time. 1)To look for early signs of whether CellCept affects JNCL symptoms like seizures, walking, mood, and thinking ability. 1)To test a new way for researchers and physicians to work together to study rare diseases. This research is supported by the BDSRA and the FDA Office of Orphan Products Development grant program (R01 FD003908). Study contacts: Amy Vierhile, PNP; Sara Defendorf; and Erika Augustine, MD 585-275-4762, www.urmc.rochester.edu/neurology/batten-disease-center/ What happens during the study? • The study lasts 22 weeks • Each child receives 8 weeks of placebo and 8 weeks of CellCept. The placebo is a sugar liquid without active medication. All children receive active medication at some point in the study. • During the study, each child completes 4 visits at the University of Rochester Batten Center of Excellence and 4 visits with a local doctor, for a total of 8 study visits. Current status • 30 children will be enrolled into the trial. • Several children have completed the trial. • We continue to enroll new children into the study. Autoimmunity in JNCL • The immune response is the human body’s toolkit for fighting infections. • Antibodies are one of the tools in the immune response toolkit. The antibodies’ job is to attack infections. • When antibodies mistakenly attack one’s own body (instead of infections), they are called autoantibodies, and the immune response is called autoimmunity. • Blood tests from children and mice with JNCL/CLN3 shows signs of autoimmunity. This autoimmunity may interfere with certain aspects of brain function. 1, 2 • If the immune response is suppressed in mice with CLN3 disease, the mice have better motor function for a longer period of time.3 • Treating children who have JNCL with medications that suppress the immune system might be one way to slow the course of the disease, by decreasing the number of autoantibodies in the blood. Mycophenolate (CellCept) • What is it? A medication that suppresses the immune response (including autoantibodies) • How is it given? By mouth twice a day, in liquid form • What are the current uses approved by the Food and Drug Administration (FDA)? Prevention of organ transplant rejection in children • What are the important known side effects? Increased risk of infection, stomach upset References 1.Ramirez-Montealegre D, et al. Autoimmunity to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease. Neurology. 2005; 64(4):743-5. 2.Chattopadhyay S, et al. An autoantibody to GAD65 in sera of patients with juvenile neuronal ceroid lipofuscinoses. Neurology. 2002; 59(11):1816-7 3.Seehafer SS, et al., Immunosuppression alters disease severity in juvenile Batten disease mice. J. Neuroimmunol. 2011; 230: 169-172. Future directions • If CellCept is safe for children with JNCL, then future trials will be needed to understand how CellCept affects the disease course when given for a long period of time. • Participation in ongoing studies of JNCL symptoms helps researchers design better trials for the future. Who can participate? • Males and females • JNCL confirmed by CLN3 genetic testing* • Able to walk 10 feet independently (may use a cane, walker, or person for guidance related to vision loss) * If genetic testing has not been performed already, this will be completed during the screening for entry into the trial