Browsing by Subject "ERT, enzyme replacement therapy"
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Item Open Access Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV.(Mol Genet Metab Rep, 2016-12) Yi, Haiqing; Gao, Fengqin; Austin, Stephanie; Kishnani, Priya S; Sun, BaodongPatients with progressive hepatic form of GSD IV often die of liver failure in early childhood. We tested the feasibility of using recombinant human acid-α glucosidase (rhGAA) for treating GSD IV. Weekly intravenously injection of rhGAA at 40 mg/kg for 4 weeks significantly reduced hepatic glycogen accumulation, lowered liver/body weight ratio, and reduced plasma ALP and ALT activities in GSD IV mice. Our data suggests that rhGAA is a potential therapy for GSD IV.Item Open Access Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum.(Molecular Genetics and Metabolism Reports, 2018-12) Potnis, Kunal C; Flueckinger, Lauren B; DeArmey, Stephanie M; Alcalay, Roy N; Cooney, Jeffrey W; Kishnani, Priya SGaucher disease (GD) is an autosomal recessive condition that results from a deficiency of the enzyme β-glucocerebrosidase. The increased risk of primary parkinsonism symptoms among individuals affected with GD and carriers for the disorder is well-documented in the literature. However, these risks and case reports often reflect patients with classical Parkinson's disease (PD) symptoms. We report a patient with GD type 1 who was diagnosed with corticobasal syndrome (CBS), a clinical atypical parkinsonism diagnosis, in his sixth decade of life. Our case highlights the need to consider forms of atypical parkinsonism such as CBS in addition to PD in the differential diagnosis of cognitive and motor changes in patients with GD type 1. We also recommend careful assessment and routine monitoring of cognition, mood, behavior, sleep patterns, olfaction, and memory in patients with GD type 1 to identify early symptoms indicative of neurological involvement.Item Open Access Non-depleting anti-CD4 monoclonal antibody induces immune tolerance to ERT in a murine model of Pompe disease.(Mol Genet Metab Rep, 2014) Sun, Baodong; Banugaria, Suhrad G; Prater, Sean N; Patel, Trusha T; Fredrickson, Keri; Ringler, Douglas J; de Fougerolles, Antonin; Rosenberg, Amy S; Waldmann, Herman; Kishnani, Priya SApproximately 35-40% of patients with classic infantile Pompe disease treated with enzyme replacement therapy (ERT) develop high, sustained antibody titers against the therapeutic enzyme alglucosidase alfa, which abrogates the treatment efficacy. Induction of antigen-specific immune tolerance would greatly enhance ERT for these patients. Here we show that a short-course treatment with non-depleting anti-CD4 monoclonal antibody successfully induced long-term ERT-specific immune tolerance in Pompe disease mice. Our data suggest an effective adjuvant therapy to ERT.