Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV
نویسندگان
چکیده
Patients 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.
منابع مشابه
A Phase 4 Prospective Study in Patients with Adult Pompe Disease Treated with Alglucosidase Alfa.
s S73 marker of disease activity, was abnormally elevated (>39 ms) in approximately 1/3 of all muscles. No changes were observed from baseline on MRI parameters. Mean increase from baseline in the 6MWT was 37.3 meters (p = 0.02). Eleven patients improved; 4 patients worsened. Mean improvement from baseline in percent predicted FVC was 1.8% (p = 0.67). Seven patients improved; 8 patients worsene...
متن کاملAlglucosidase alfa: 5 years of experience in late-onset Pompe disease
Glycogen storage disease type 2, Pompe disease, is a progressive muscle disorder with a wide range of phenotypic presentations, caused by an inherited deficiency of the enzyme acid alpha-glucosidase. Although only a few patients have been treated with recombinant human alpha-glucosidase from rabbit milk since 2004, enzyme replacement therapy (ERT) with alglucosidase alfa has been licensed for t...
متن کاملA review of treatment of Pompe disease in infants
The glycogen storage disease type II (GSD-II), or Pompe disease, is due to the deficit of lysosomal glycogen degradation enzyme acid alpha-glucosidase (GAA). In infants, Pompe disease is characterized by prominent hypotonia, muscle weakness, motor delay, feeding problems, and respiratory and cardiac insufficiency. In a retrospective study, the median age at death was 8.7 months. Enzyme replacem...
متن کاملProspective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.
BACKGROUND Late-onset Pompe disease is characterized by progressive skeletal myopathy followed by respiratory muscle weakness, typically leading to loss of ambulation and respiratory failure. In this population, enzyme replacement therapy (ERT) with alglucosidase alfa has been shown to stabilize respiratory function and improve mobility and muscle strength. Muscle pathology and glycogen clearan...
متن کاملTransient low-dose methotrexate generates B regulatory cells that mediate antigen-specific tolerance to alglucosidase alfa.
Biologic drugs, including enzyme-replacement therapies, can elicit anti-drug Abs (ADA) that may interfere with drug efficacy and impact patient safety. In an effort to control ADA, we focused on identifying regimens of immune tolerance induction that may be readily available for clinical use. Data generated in both wild-type mice and a Pompe disease mouse model demonstrate that single-cycle, lo...
متن کامل