HOME PRODUCTS SERVICES COMPANY CONTACT FAQ

Glycogen Storage Disease Type II (Pompe's Disease)

Subscribe to New Research on Glycogen Storage Disease Type II

An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)

Also Known As:

Pompe's Disease; Glycogenosis Type II; Acid Maltase Deficiency; Adult Glycogen Storage Disease Type II; Alpha-1,4-Glucosidase Deficiency; Deficiency Disease, Acid Maltase; Deficiency Disease, Lysosomal alpha-1,4-Glucosidase; Glycogen Storage Disease Type 2; Glycogen Storage Disease Type II, Adult; Glycogen Storage Disease Type II, Infantile; Glycogen Storage Disease Type II, Juvenile; Infantile Glycogen Storage Disease Type II; Juvenile Glycogen Storage Disease Type II; Acid Maltase Deficiencies; Alpha 1,4 Glucosidase Deficiency; Alpha-1,4-Glucosidase Deficiencies; Deficiencies, Acid Maltase; Deficiencies, Alpha-1,4-Glucosidase; Deficiency, Acid Maltase; Deficiency, Alpha-1,4-Glucosidase; Disease, Pompe; Disease, Pompe's; Generalized Glycogenoses; Glycogenoses, Generalized; Glycogenosis 2s; Glycogenosis Type IIs; Glycogenosis, Generalized; IIs, Glycogenosis Type; Lysosomal alpha 1,4 Glucosidase Deficiency Disease; Maltase Deficiencies, Acid; Maltase Deficiency, Acid; Pompes Disease; Type II, Glycogenosis; Type IIs, Glycogenosis; Acid Maltase Deficiency Disease; Generalized Glycogenosis; Glycogenosis 2; Lysosomal alpha-1,4-Glucosidase Deficiency Disease; Pompe Disease

Networked: 919 relevant articles (66 outcomes, 87 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Glycogen Storage Disease Type II (Pompe's Disease)
2.	Cardiomyopathies (Cardiomyopathy)
3.	Fabry Disease (Fabry's Disease)
4.	Gaucher Disease (Gaucher's Disease)
5.	Glycogen Storage Disease (Glycogenosis)

Experts

1.	Kishnani, Priya S: 72 articles (11/2015 - 08/2005)
2.	Reuser, Arnold J J: 39 articles (03/2015 - 06/2002)
3.	Raben, Nina: 34 articles (01/2015 - 03/2002)
4.	van der Ploeg, Ans T: 33 articles (05/2015 - 06/2003)
5.	Byrne, Barry J: 27 articles (10/2015 - 03/2002)
6.	Young, Sarah P: 22 articles (01/2015 - 05/2003)
7.	Koeberl, Dwight D: 20 articles (01/2015 - 04/2003)
8.	Thurberg, Beth L: 19 articles (02/2013 - 11/2004)
9.	Hwu, Wuh-Liang: 18 articles (01/2015 - 03/2004)
10.	Chien, Yin-Hsiu: 18 articles (01/2015 - 09/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Glycogen Storage Disease Type II:

1.	human GAA protein (Myozyme)FDA Link 08/01/2005 - "These results suggest that urinary Glc4 and plasma Hex4 could serve as a valuable adjunct to clinical endpoints for monitoring the efficacy of therapeutic interventions such as rhGAA ERT in Pompe disease." 04/01/2009 - "The results from clinical trials with recombinant human acid alpha-glucosidase have been published, and they show promising results with regards to the improvement of respiratory function in patients with Pompe disease. " 01/09/2007 - "Recombinant human acid alpha-glucosidase is safe and effective for treatment of infantile-onset Pompe disease. " 04/01/2015 - "This exploratory, randomized, open-label, 52-week study examined the safety and efficacy of 2 ERT regimens of alglucosidase alfa (20 mg/kg/week or 40 mg/kg/2 weeks) in 13 patients with Pompe disease and clinical decline or a lack of improvement on standard ERT: late-onset (n = 4), infantile-onset (n = 9). " 04/01/2015 - "Although treatment with alglucosidase alfa has helped improve the prognosis of patients with late-onset Pompe disease, both the development of the disease and the effectiveness of the treatment need to be monitored on a regular basis. "
2.	alpha-Glucosidases (Acid Maltase)IBA 12/01/2006 - "Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II." 09/01/2000 - "However, individuals with Pompe disease showed a marked decrease in acid alpha-glucosidase protein in both plasma and whole blood compared with unaffected controls. " 05/01/2003 - "Previously, in murine models of acid maltase deficiency (AMD), we demonstrated that intravenous administration of an improved adenovirus (Ad) vector encoding human acid alpha glucosidase (hGAA) resulted in liver transduction, followed by high-level hepatocyte-mediated secretion of hGAA into the plasma space. " 06/01/2009 - "Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease." 01/01/2005 - "Impact of humoral immune response on distribution and efficacy of recombinant adeno-associated virus-derived acid alpha-glucosidase in a model of glycogen storage disease type II."
3.	GlucosidasesIBA 05/01/2011 - "Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots." 12/01/2010 - "Treatment of infantile Pompe disease with recombinant human acid α-glucosidase has shown substantial improvement in survival, and in cardiac, motor and respiratory functions. " 05/01/2004 - "We tested the long-term safety and efficacy of recombinant human -glucosidase (rhAGLU) from rabbit milk for the treatment of the lysosomal storage disorder Pompe disease. " 08/01/1992 - "Our results showed that alpha-D-glucosidase did exist in the skin fibroblasts of all seven Pompe's disease patients by RIP and in the hepatic cells by immunohistological study. " 08/01/1986 - "Study of alpha-D-glucosidase activity in patients with Pompe's disease."
4.	GlycogenIBA 11/01/2010 - "The clearance of stored glycogen was markedly impaired despite high GAA expression in receptor-deficient Pompe disease mice. " 02/15/2010 - "These data demonstrate that long-term elimination of muscle glycogen synthesis leads to a significant improvement of structural, metabolic and functional defects in GSDII mice and offers a new perspective for the treatment of Pompe disease." 10/01/2009 - "Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high-level vector-mediated transgene expression." 10/01/2009 - "The biochemical correction of the heart and diaphragm was associated with efficacy, as reflected by increased Rotarod performance; however, the clearance of glycogen from skeletal muscles was relatively impaired compared to in younger Pompe disease mice. " 01/01/2007 - "Based on the study results, we concluded that GAA deficiency in vitro in late-onset type II glycogenosis was not directly proportional to the amount of glycogen storage, vacuolar degeneration and disease severity."
5.	AntibodiesIBA 09/01/2015 - "Although these therapies are effective, in at least one condition, infantile-onset Pompe disease, antibodies that develop against the drug significantly reduce its efficacy. " 01/01/2015 - "Similarly, in adeno-associated virus (AAV) vector-mediated gene transfer for Pompe disease, development of antibodies against the GAA transgene product and the AAV vector prevents therapeutic efficacy and vector readministration, respectively. " 01/01/1981 - "The use of antiacid alpha-1,4-glucosidase antibodies greatly improved the specificity of the diagnostic tests for type II glycogenosis, particularly in fibroblasts, lymphocytes, and urine. " 07/01/2012 - "However, the literature on the role of antibodies in the late-onset Pompe disease (LOPD) population is limited. " 07/01/2012 - "The impact of antibodies in late-onset Pompe disease: a case series and literature review."
6.	EnzymesIBA 02/01/2012 - "Thus, adjunctive therapy with β2 agonists might improve the efficacy of ERT in Pompe disease and possibly other lysosomal storage disorders through enhancing receptor-mediated uptake of recombinant lysosomal enzymes." 01/01/1998 - "[Treatment of Pompe's disease with recombinant enzymes]." 09/01/1995 - "Although the histologic findings in the central nervous system resembled those of infantile acid maltase deficiency, the essayed lysosomal enzymes were normal. " 10/25/1965 - "The subcellular distribution of enzymes in type II glycogenosis and the occurrence of an oligo-alpha-1,4-glucan glucohydrolase in human tissues." 01/01/2010 - "This study reports interval values for the activity of lysosomal enzymes that are deficient in Mucopolysaccharidosis type I, Fabry, Gaucher and Pompe disease, using dried blood spots on filter paper (DBS) samples in a Brazilian population. "
7.	Acarbose FDA LinkGeneric 05/01/2006 - "Enzyme assay using acarbose as an inhibitor, can be performed in isolated lymphocytes for rapid diagnosis of infantile Pompe disease." 05/01/2006 - "The results using acarbose compared well with those using the skin fibroblast assay in the same group of patients with proven infantile Pompe disease. " 05/01/2006 - "Enzyme measurement in an isolated lymphocyte population with acarbose, an inhibitor of neutral alpha-glucosidase, has greatly improved the sensitivity and specificity of the test in blood cells allowing for more rapid laboratory testing for Pompe disease. " 06/01/2009 - "Enzyme analysis for Pompe disease in leukocytes has been greatly improved by the introduction of acarbose, a powerful inhibitor of interfering alpha-glucosidases, which are present in granulocytes but not in lymphocytes. " 12/01/2011 - "To investigate the feasibility of NBS for Pompe disease in Japan, we obtained dried blood spots (DBSs) from 496 healthy Japanese controls, 29 Japanese patients with Pompe disease, and five obligate carriers, and assayed GAA activity under the following conditions: (1) total GAA measured at pH 3.8, (2) GAA measured at pH 3.8 in the presence of acarbose, and (3) neutral glucosidase activity (NAG) measured at pH 7.0 without acarbose. "
8.	IGF Type 2 Receptor (Insulin-Like-Growth-Factor II Receptor)IBA 11/01/2010 - "Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease." 06/01/2011 - "Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle." 05/01/2014 - "Effective dosages for enzyme replacement therapy (ERT) in Pompe disease are much higher than for other lysosomal storage disorders, which has been attributed to low cation-independent mannose-6-phosphate receptor (CI-MPR) in skeletal muscle. " 01/01/2008 - "Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts." 01/01/2013 - "Pompe disease has resisted enzyme replacement therapy with acid α-glucosidase (GAA), which has been attributed to inefficient cation-independent mannose-6-phosphate receptor (CI-MPR) mediated uptake. "
9.	bortezomib (Velcade)FDA Link 02/01/2013 - "The addition of bortezomib to immunomodulatory regimens is an effective and safe treatment strategy in infantile Pompe disease, with potentially broader clinical implications." 02/01/2013 - "Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease." 01/01/2015 - "Recently, we showed that function of mutant GAA in fibroblasts derived from Pompe disease patient carrying c.546G>T mutation is improved by treatment with proteasome inhibitor bortezomib as well as pharmacological chaperone (PC). " 01/01/2015 - "Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease."
10.	Periodic AcidIBA 04/01/2012 - "Periodic acid-Schiff staining on resin muscle sections: improvement in the histological diagnosis of late-onset Pompe disease." 04/01/2010 - "Screening of blood films for the presence of periodic acid-Schiff (PAS)-positive lymphocyte vacuoles is sometimes used to support the diagnosis of Pompe disease, but the actual diagnostic value is still unknown. " 07/01/2013 - "However, experience has shown that relying solely on visualizing a periodic acid-Schiff-positive vacuolar myopathy to identify late-onset Pompe disease often leads to false-negative results and subsequent delays in identification and treatment of the disorder. "

Therapies and Procedures

1.	Enzyme Replacement Therapy 01/01/2013 - "Although enzyme replacement therapy (ERT) is a highly effective therapy, CRIM-negative (CN) infantile Pompe disease (IPD) patients typically mount a strong immune response which abrogates the efficacy of ERT, resulting in clinical decline and death. " 03/01/2012 - "Early identification of Pompe disease is very important, considering that enzyme replacement therapy is a safe and effective treatment for early-onset patients." 05/01/2006 - "Recent clinical trials of enzyme replacement therapy have begun to allow greater opportunity for potential improvement in motor status, function, and survival than ever before, with hopes of moving toward maximizing physical function for individuals with Pompe disease. " 05/01/2004 - "Our study shows that a safe and effective medicine can be produced in the milk of mammals and encourages additional development of enzyme replacement therapy for the several forms of Pompe disease. " 12/01/2013 - "New and improved diagnostic tools are now available for some of these disorders, and targeted therapies for specific biochemical deficits have been developed (ie, enzyme replacement therapy for acid maltase deficiency). "
2.	Enzyme Therapy 11/01/2007 - "Small studies suggest that enzyme therapy is highly efficacious in infantile Pompe disease and that earlier intervention leads to improved outcomes. " 12/01/2009 - "Immunomodulatory gene therapy with a very low vector dose could enhance the efficacy of enzyme therapy in Pompe disease and other lysosomal storage disorders." 01/01/2012 - "Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study." 12/01/2010 - "Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study." 10/01/2002 - "this review focuses on the latter study, discusses the scientific, technological and commercial aspects of the enterprise, and addresses the prospects and challenges of enzyme therapy for Pompe disease."
3.	Mechanical Ventilators (Ventilator) 05/01/2015 - "Mildly affected adult patients with Pompe disease who were not dependent on ventilators and/or walking devices and were receiving enzyme replacement therapy. " 10/01/2013 - "Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency." 01/01/1983 - "Acid maltase deficiency: treatment of respiratory insufficiency with cuirass respirator." 01/01/2013 - "We identified all Dutch families in which two or three siblings were diagnosed with Pompe disease and described genotype, acid α-glucosidase activity, age at symptom onset, presenting symptoms, specific clinical features, mobility and ventilator dependency. " 01/01/2010 - "CRIM-negative status predicted reduced overall survival and invasive ventilator-free survival and poorer clinical outcomes in infants with Pompe disease treated with rhGAA. "
4.	Anesthesia 02/01/2009 - "Recently a promising enzyme replacement therapy has resulted in improved clinical outcomes, and the number of anesthesia for infants of with Pompe's disease will increase in future." 01/01/2012 - "The management of pregnancies complicated by Pompe disease requires a multidisciplinary approach, including expertise in neuromuscular disease, maternal-fetal medicine, biochemical genetics, pulmonology, anesthesia, and dietetics." 07/01/2011 - "We report a case of an infant with Pompe disease who experienced ventricular fibrillation during induction of anesthesia." 08/01/2007 - "Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series." 11/01/1996 - "Prolonged respiratory depression after anesthesia for parathyroidectomy in a patient with juvenile type of acid maltase deficiency."
5.	Artificial Respiration (Mechanical Ventilation) 11/01/2015 - "Every patient received ERT showing a favorable evolution; with disappearance of cardiac disorders in case 1, improvement in motor development in both infants and no longer need for mechanical ventilation in case 3. Pompe disease has a wide variability in clinical expression. " 12/01/2005 - "Mechanical ventilation and tracheostomy may improve vital capacity and should, therefore, be taken into account when evaluating treatments for the adult form of Pompe's disease." 01/01/2014 - "We present a case of adult-onset Pompe's disease with progressive proximal muscles weakness over 5 years and respiratory failure on admission, requiring prolonged mechanical ventilation. " 07/14/1989 - "[Nightly home artificial respiration in juvenile Pompe's disease with pulmonary hypertension and right cardiac insufficiency]."