glycogen storage disease type ii

Summary

Summary: 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)

Top Publications

  1. ncbi Pompe's disease
    Ans T Van der Ploeg
    Department of Paediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC, Sophia Children s Hospital, University Medical Centre, Rotterdam, The Netherlands
    Lancet 372:1342-53. 2008
  2. ncbi A randomized study of alglucosidase alfa in late-onset Pompe's disease
    Ans T Van der Ploeg
    Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    N Engl J Med 362:1396-406. 2010
  3. ncbi The genotype-phenotype correlation in Pompe disease
    Marian Kroos
    Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Am J Med Genet C Semin Med Genet 160:59-68. 2012
  4. ncbi Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease
    P S Kishnani
    Division of Medical Genetics, Department of Pediatrics, Box 3528, Duke University Medical Center, Durham, NC 27710, USA
    Neurology 68:99-109. 2007
  5. pmc Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder--murine Pompe disease
    Nina Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA
    Autophagy 6:1078-89. 2010
  6. pmc Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
    Nadine A M E van der Beek
    Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, s Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands
    Orphanet J Rare Dis 7:88. 2012
  7. pmc Pompe disease diagnosis and management guideline
    Priya S Kishnani
    Duke University Medical Center, NC, USA
    Genet Med 8:267-88. 2006
  8. pmc Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease
    Nina Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892 1820, USA
    Hum Mol Genet 17:3897-908. 2008
  9. pmc The emerging phenotype of long-term survivors with infantile Pompe disease
    Sean N Prater
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA
    Genet Med 14:800-10. 2012
  10. pmc Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease
    Yoav H Messinger
    Pediatric Hematology Oncology, Children s Hospitals and Clinics of Minnesota, Minneapolis, Minnesota, USA
    Genet Med 14:135-42. 2012

Detail Information

Publications246 found, 100 shown here

  1. ncbi Pompe's disease
    Ans T Van der Ploeg
    Department of Paediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC, Sophia Children s Hospital, University Medical Centre, Rotterdam, The Netherlands
    Lancet 372:1342-53. 2008
    ....
  2. ncbi A randomized study of alglucosidase alfa in late-onset Pompe's disease
    Ans T Van der Ploeg
    Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    N Engl J Med 362:1396-406. 2010
    ..We conducted a randomized, placebo-controlled trial of alglucosidase alfa, a recombinant human GAA, for the treatment of late-onset Pompe's disease...
  3. ncbi The genotype-phenotype correlation in Pompe disease
    Marian Kroos
    Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Am J Med Genet C Semin Med Genet 160:59-68. 2012
    ..The present day challenge is to identify these factors and explore them as therapeutic targets...
  4. ncbi Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease
    P S Kishnani
    Division of Medical Genetics, Department of Pediatrics, Box 3528, Duke University Medical Center, Durham, NC 27710, USA
    Neurology 68:99-109. 2007
    ..The safety and efficacy of recombinant human (rh) GAA were evaluated in 18 patients with rapidly progressing infantile-onset Pompe disease...
  5. pmc Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder--murine Pompe disease
    Nina Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA
    Autophagy 6:1078-89. 2010
    ..The suppression of autophagy, which has proven successful in the Pompe model, is a novel therapeutic approach that may be useful in other diseases with disturbed autophagy...
  6. pmc Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
    Nadine A M E van der Beek
    Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, s Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands
    Orphanet J Rare Dis 7:88. 2012
    ..Furthermore, we defined the natural disease course and identified prognostic factors for disease progression...
  7. pmc Pompe disease diagnosis and management guideline
    Priya S Kishnani
    Duke University Medical Center, NC, USA
    Genet Med 8:267-88. 2006
  8. pmc Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease
    Nina Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892 1820, USA
    Hum Mol Genet 17:3897-908. 2008
    ..As a result, autophagic substrates, including potentially toxic aggregate-prone ubiquitinated proteins, accumulate in Pompe myofibers and may cause profound muscle damage...
  9. pmc The emerging phenotype of long-term survivors with infantile Pompe disease
    Sean N Prater
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA
    Genet Med 14:800-10. 2012
    ..Enzyme replacement therapy with alglucosidase alfa for infantile Pompe disease has improved survival creating new management challenges. We describe an emerging phenotype in a retrospective review of long-term survivors...
  10. pmc Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease
    Yoav H Messinger
    Pediatric Hematology Oncology, Children s Hospitals and Clinics of Minnesota, Minneapolis, Minnesota, USA
    Genet Med 14:135-42. 2012
    ..Cross-reactive immunologic material negative (CRIM-negative) Pompe patients develop high-titer antibody to the rhGAA and do poorly. We describe successful tolerance induction in CRIM-negative patients...
  11. ncbi Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years
    C Angelini
    Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128, Padova, Italy
    J Neurol 259:952-8. 2012
    ..These results, obtained in a large case series on therapy, indicate a favourable effect of ERT therapy, even in more advanced stage of the disease...
  12. ncbi Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease
    M G Pittis
    Unita di Malattie Metaboliche, IRCCS Burlo Garofolo, Trieste, Italy
    Hum Mutat 29:E27-36. 2008
    We characterized 29 unrelated patients presenting with the severe form of Pompe disease (Glycogen Storage Disease Type II, acid maltase deficiency) and identified 26 pathogenic mutations divided over 28 different genotypes...
  13. ncbi Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement
    Lisa D Hobson-Webb
    Duke University Department of Medicine Division of Neurology, Durham, NC 27710, United States
    Neuromuscul Disord 23:319-23. 2013
    ..Further studies, including examination of the relationship between lingual weakness and oropharyngeal dysphagia, are warranted...
  14. ncbi Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation
    M L Huie
    New York University Medical Center, Department of Medicine, NY 10016
    Hum Mol Genet 3:2231-6. 1994
    ..and IVS10 +1GT-->CT) were found in a patient with adult onset of the autosomal recessive disorder glycogen storage disease type II (GSDII)...
  15. ncbi Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients
    Wolfgang Müller-Felber
    Haunersche Kinderklinik, Childrens Hospital, Ludwig Maximilians University, Lindwurmstr 4, 80337 Munich, Germany
    Neuromuscul Disord 17:698-706. 2007
    ..Pompe disease should be taken into consideration in patients with unexplained limb girdle muscular weakness with respiratory failure. Cardiac manifestations may not be restricted to infantile Pompe disease...
  16. ncbi Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II
    N Raben
    Arthritis and Rheumatism Branch, NIAMS, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 273:19086-92. 1998
    We have used gene targeting to create a mouse model of glycogen storage disease type II, a disease in which distinct clinical phenotypes present at different ages...
  17. ncbi The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature
    Hannerieke M P Van den Hout
    Divison of Metabolic Diseases and Genetics, Department of Pediatrics, Erasmus Medical Center Sophia Children s Hospital, Rotterdam, The Netherlands
    Pediatrics 112:332-40. 2003
    ..Current developments toward enzyme replacement therapy are promising. The aim of our study is to delineate the natural course of the disease to verify endpoints of clinical studies...
  18. pmc The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts
    Caterina Porto
    Department of Pediatrics, Federico II University, Naples, Italy
    Mol Ther 17:964-71. 2009
    ..A synergistic effect of these treatments may result particularly useful in patients responding poorly to therapy and in tissues in which sufficient enzyme levels are difficult to obtain...
  19. ncbi The natural course of non-classic Pompe's disease; a review of 225 published cases
    Leon P F Winkel
    Department of Paediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC Sophia, Dr Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands
    J Neurol 252:875-84. 2005
    ..Studies of non-classic Pompe's disease should focus on these aspects, before enzyme replacement therapy becomes generally available...
  20. ncbi Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II
    A L E Montalvo
    Unita di Malattie Metaboliche, IRCCS Burlo Garofolo, Trieste, Italy
    Hum Mutat 27:999-1006. 2006
    b>Glycogen storage disease type II (GSDII) is a recessively inherited disorder due to the deficiency of acid alpha-glucosidase (GAA) that results in impaired glycogen degradation and its accumulation in the lysosomes...
  21. ncbi Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease
    Marc Nicolino
    Division of Pediatric Endocrinology, Diabetology and Metabolism, Hopital Debrousse, University Lyon, Lyon, France
    Genet Med 11:210-9. 2009
    ..A clinical trial was conducted to evaluate the safety and efficacy of alglucosidase alfa in infants and children with advanced Pompe disease...
  22. ncbi Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype
    M A Kroos
    Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA, Rotterdam, The Netherlands
    Neurology 68:110-5. 2007
    Pompe disease (acid maltase deficiency, glycogen storage disease type II; OMIM 232300) is an autosomal recessive lysosomal storage disorder characterized by acid alpha-glucosidase deficiency due to mutations in the GAA gene...
  23. ncbi A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
    Priya S Kishnani
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    J Pediatr 148:671-676. 2006
    ..To characterize the natural progression of infantile-onset Pompe disease...
  24. pmc Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease
    Priya Sunil Kishnani
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA
    J Pediatr 149:89-97. 2006
    ..To conduct an open-label, multinational, multicenter study examining the safety and efficacy of recombinant human acid alpha-glucosidase (rhGAA) in treatment of infantile-onset Pompe disease...
  25. pmc Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches
    Shoichi Takikita
    Arthritis and Rheumatism Branch, National Institutes of Arthritis and Musculoskeletal and Skin Diseases, NIH, Building 50 Room 1345, 50 South Drive, Bethesda, MD 20892, USA
    Mol Genet Metab 96:208-17. 2009
    ....
  26. ncbi Autophagy and lysosomes in Pompe disease
    Tokiko Fukuda
    Arthritis and Rheumatism Branch, Office of Science and Technology, NIAMS, National Institutes of Health, Bethesda, Maryland 20892 1820, USA
    Autophagy 2:318-20. 2006
    ....
  27. pmc Role of autophagy in the pathogenesis of Pompe disease
    N Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA
    Acta Myol 26:45-8. 2007
    ..These findings may explain why ERT often falls short of reversing the disease process, and point to new avenues for the development of pharmacological intervention...
  28. ncbi Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease
    P Laforet
    Institut de Myologie, Batiment Babinski, Groupe Hospitalier Pitie Salpetriere, 75651 Paris Cedex 13, France
    Neurology 70:2063-6. 2008
    ..Strokes related to intracranial aneurysm or arteriopathy have been reported in a few patients with late-onset Pompe disease. These reports suggested that cerebral vessel involvement could be an underrecognized complication of this disease...
  29. ncbi Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II
    Toshika Okumiya
    Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    Mol Genet Metab 90:49-57. 2007
    b>Glycogen storage disease type II (GSDII; Pompe disease or acid maltase deficiency) is an autosomal recessive disorder caused by lysosomal acid alpha-glucosidase (AalphaGlu) deficiency and manifests predominantly as skeletal muscle ..
  30. ncbi Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor
    Rodney J Moreland
    Genzyme Corporation, Oklahoma City, Oklahoma 73104, USA
    J Biol Chem 280:6780-91. 2005
    ..These data demonstrate that the mature forms of GAA characterized by polypeptides of 76 or 70 kDa are in fact larger molecular mass multicomponent enzyme complexes...
  31. ncbi Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns
    Robert Yves Carlier
    Service de Radiologie, Hopital Raymond Poincare, 104 boulevard Raymond Poincaré, Garches, France
    Neuromuscul Disord 21:791-9. 2011
    ..Whole-body MRI provides a very evocative description of muscle involvement in Pompe disease in adults...
  32. ncbi Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review
    Antonio Toscano
    Department of Neurosciences, Psychiatry and Anesthesiology, AOU Policlinico G Martino, University of Messina, 98125 Messina, Italy
    J Neurol 260:951-9. 2013
    ..Further research is required to investigate factors such as age at diagnosis, phenotypic presentation, and genotypic characteristics, identification of which may enable better clinical and therapeutic management of LOPD patients...
  33. pmc Fiber type conversion by PGC-1α activates lysosomal and autophagosomal biogenesis in both unaffected and Pompe skeletal muscle
    Shoichi Takikita
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 5:e15239. 2010
    ..These findings may have implications for therapy of lysosomal diseases and other disorders with altered autophagy...
  34. ncbi The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II
    M M Hermans
    Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Hum Mol Genet 3:2213-8. 1994
    b>Glycogen storage disease type II (GSDII, Pompe's disease) is caused by an autosomal recessive inheritance of lysosomal alpha-glucosidase deficiency...
  35. ncbi Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density
    Linda E M van den Berg
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Bone 47:643-9. 2010
    ..The introduction of enzyme replacement therapy as treatment for the disease may change prospects for patients and may require that more attention be paid to co-morbidities such as osteoporosis...
  36. ncbi Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families
    M G Ausems
    Department of Medical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 AB, The, Utrecht, Netherlands
    Neuromuscul Disord 10:467-71. 2000
    The intrafamilial variability of late-onset glycogen storage disease type II was studied in siblings of 18 patients and in reports in the literature...
  37. pmc Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten
    Nina Raben
    NIAMS, NIH, Bethesda, MD 20892 1820, USA
    Am J Med Genet C Semin Med Genet 160:13-21. 2012
    ..In this review, we will focus on these recent data, and comment on the not so recent observations pointing to the involvement of autophagy in skeletal muscle damage in Pompe disease...
  38. ncbi Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification
    Hsiang Po Huang
    Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan
    Hum Mol Genet 20:4851-64. 2011
    ..Collectively, these results demonstrate that PomD-iPSCs are a promising in vitro disease model for the development of novel therapeutic strategies for Pompe disease...
  39. ncbi Immortalization of murine muscle cells from lysosomal alpha-glucosidase deficient mice: a new tool to study pathophysiology and assess therapeutic strategies for Pompe disease
    Gaelle Douillard-Guilloux
    Institut Cochin, Université Paris Descartes CNRS UMR 8104, Paris, France INSERM, U567, Paris, France
    Biochem Biophys Res Commun 388:333-8. 2009
    b>Glycogen storage disease type II (GSDII) is an autosomal recessive disorder caused by defects in the acid alpha-glucosidase (GAA) gene leading to lysosomal glycogen accumulation, mainly in cardiac and muscle tissues...
  40. ncbi Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II
    Bruno Bembi
    Regional Coordination Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy
    J Inherit Metab Dis 33:727-35. 2010
    ..Long-term follow-up studies are not available at present. The aim of this study was to evaluate the ERT long-term effects in late-onset GSDII...
  41. ncbi Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk
    J M Van den Hout
    Department of Pediatrics, Sophia Children s Hospital, University Hospital Rotterdam, The Netherlands
    J Inherit Metab Dis 24:266-74. 2001
    ..Motor function improved. The positive preliminary results stimulate continuation and extension of efforts towards the realization of enzyme therapy for Pompe disease...
  42. ncbi Pompe disease in infants: improving the prognosis by newborn screening and early treatment
    Yin Hsiu Chien
    Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan
    Pediatrics 124:e1116-25. 2009
    ..Favorable outcomes with early intravenous enzyme-replacement therapy and alglucosidase alfa have been reported, but early clinical diagnosis before the development of severe symptoms has rarely been possible in infants...
  43. ncbi Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling
    M G Ausems
    Department of Medical Genetics, University Medical Center, Utrecht, The Netherlands
    Eur J Hum Genet 7:713-6. 1999
    b>Glycogen storage disease type II (GSD H) is an autosomal recessive myopathy. Early and late-onset phenotypes are distinguished - infantile, juvenile and adult...
  44. pmc Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine pompe disease
    Baodong Sun
    Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA
    Mol Ther 18:353-60. 2010
    ..01; symptoms: P < 0.05). Ubiquitous GAA expression failed to prevent antibody formation. Thus, immunomodulatory gene therapy could provide adjunctive therapy in lysosomal storage disorders treated by enzyme replacement...
  45. pmc Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants
    Priya S Kishnani
    Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Box 103856 DUMC, 4th Floor GSRBI, 595 LaSalle Street, Durham, NC 27710, USA
    Mol Genet Metab 99:26-33. 2010
    ..The effect of CRIM status on outcome appears to be mediated by antibody responses to the exogenous protein...
  46. ncbi Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease
    Sabrina Sacconi
    Centre de Référence des maladies Neuromusculaires, hôpital Archet 1, 151 route de Saint Antoine de Ginestiere, 06202, Nice, France
    J Neurol 257:1730-3. 2010
    ..In conclusion, neurologists should be aware that intracranial artery abnormalities are not infrequent in patients with late-onset Pompe disease, and they should be specifically investigated in the presence of unexplained CNS symptoms...
  47. ncbi Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients
    M L C Hagemans
    Department of Metabolic Diseases and Genetics, Erasmus MC Sophia, Rotterdam, The Netherlands
    Brain 128:671-7. 2005
    Late-onset Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is a slowly progressive myopathy caused by deficiency of acid alpha-glucosidase...
  48. ncbi Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial
    A Amalfitano
    Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    Genet Med 3:132-8. 2001
    PURPOSE: Infantile glycogen storage disease type II (GSD-II) is a fatal genetic muscle disorder caused by deficiency of acid alpha-glucosidase (GAA)...
  49. ncbi Sibling phenotype concordance in classical infantile Pompe disease
    Wendy E Smith
    Division of Genetics, The Barbara Bush Children s Hospital, Maine Medical Center, Portland, Maine, USA
    Am J Med Genet A 143:2493-501. 2007
    ..This prognostic information is vital for families with affected infants and allows for appropriate genetic counseling...
  50. ncbi Body composition analysis in late-onset Pompe disease
    G K Papadimas
    Department of Neurology, University of Athens, School of Medicine, Eginition Hospital, Athens, Greece
    Mol Genet Metab 102:41-3. 2011
    ..Conclusively, the greater femoral neck BMD involvement may be attributed to the lower mechanical load applied by the selectively weakened muscles, whereas the increased fat mass may be the result of metabolic and nutritional derangement...
  51. pmc Evaluation of systemic follistatin as an adjuvant to stimulate muscle repair and improve motor function in Pompe mice
    Joseph W Foley
    Genzyme Corporation, Framingham, Massachusetts, USA
    Mol Ther 18:1584-91. 2010
    ..These findings highlight the importance of treating Pompe skeletal muscle before pathology becomes irreversible, and suggest that adjunctive therapies may not be effective without first clearing skeletal muscle glycogen storage with GAA...
  52. ncbi Rigid spine syndrome revealing late-onset Pompe disease
    Pascal Laforet
    Centre de Référence de Pathologie Neuromusculaire Paris Est, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Paris, France
    Neuromuscul Disord 20:128-30. 2010
    ....
  53. pmc The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII)
    A C Nascimbeni
    Department of Neurosciences, University of Padova, Biomedical Campus Pietro d Abano, Italy
    Cell Death Differ 19:1698-708. 2012
    ..Defects in lysosomal function result in severe muscle disorders such as Pompe (glycogen storage disease type II (GSDII)) disease, characterized by an accumulation of autophagosomes...
  54. ncbi Clinical features of late-onset Pompe disease: a prospective cohort study
    John H J Wokke
    Universitair Medisch Centrum Utrecht HP G03 228, Heidelberglaan 100, 3584 CX Utrecht, Netherlands
    Muscle Nerve 38:1236-45. 2008
    ..The outcome measures were demonstrated to be safe and reliable. Symptom duration was identified as the best predictor of the extent of skeletal and respiratory muscle weakness...
  55. pmc Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy
    Nina Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892 1820, USA
    Mol Genet Metab 101:324-31. 2010
    ..In most fibers, the two pathologies did not seem to coexist. These data point to the possibility of differences in the pathogenesis of Pompe disease in infants and adults...
  56. ncbi Early pathologic changes and responses to treatment in patients with later-onset Pompe disease
    Yin Hsiu Chien
    Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    Pediatr Neurol 46:168-71. 2012
    ..Because these pathologic changes may not respond to treatment, early treatment is necessary to achieve the best outcomes...
  57. ncbi Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation
    Laura Gort
    Institut de Bioquimica Clinica, Hospital Clinic, C Mejía Lequerica s n, Edifici Helios III, 08028 Barcelona, Spain
    Mol Genet Metab 92:183-7. 2007
    b>Glycogen storage disease type II is an autosomal recessive disorder of glycogen metabolism due to deficiency of lysosomal acid alpha-glucosidase. We present the molecular and enzymatic analyses of 22 Spanish GSD II patients...
  58. ncbi New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy
    Corrado Angelini
    University of Padova, Department of Neurosciences, Padova, Italy
    Muscle Nerve 45:831-4. 2012
    ..The clinical course of late-onset Pompe disease is heterogeneous, and new clinical outcome measures are needed to evaluate enzyme replacement therapy (ERT)...
  59. pmc Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease
    Priya S Kishnani
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Pediatr Res 66:329-35. 2009
    ..Overall, long-term alglucosidase alpha treatment markedly extended survival as well as ventilation-free survival and improved cardiomyopathy...
  60. ncbi Delayed or late-onset type II glycogenosis with globular inclusions
    Mehar C Sharma
    Department of Neuropathology, Johannes Gutenberg University, Langenbeckstrasse 1, 55131, Mainz, Germany
    Acta Neuropathol 110:151-7. 2005
    ..Although only one patient with such globular inclusions has been reported up to now, the three patients described here indicate that in the late-onset type of GSD II such inclusions may not be rare...
  61. ncbi Trunk muscle involvement in late-onset Pompe disease: study of thirty patients
    Aída Alejaldre
    Neuromuscular Disorders Unit, Department of Neurology, Universitat Autonoma de Barcelona, Hospital de Santa Creu i Sant Pau, Barcelona, Spain
    Neuromuscul Disord 22:S148-54. 2012
    ....
  62. ncbi Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease
    N A M E Van der Beek
    Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Mol Genet Metab 104:129-36. 2011
    ..8% points (p<0.01). We conclude that pulmonary dysfunction in Pompe disease is much more common than generally thought. Males, patients with severe muscle weakness, and those with advanced disease duration seem most at risk...
  63. ncbi The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease
    Paola De Filippi
    Department of Patologia Umana ed Ereditaria, University of Pavia, Pavia, Italy
    Genet Med 12:206-11. 2010
    ..We examined whether Pompe disease clinical manifestations, which are known to be highly variable among late-onset patients, may be modulated by angiotensin-converting enzyme polymorphism...
  64. ncbi Diagnosis of Pompe disease: muscle biopsy vs blood-based assays
    John Vissing
    Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, DK 2100 Copenhagen, Denmark
    JAMA Neurol 70:923-7. 2013
    The diagnosis of Pompe disease (acid maltase deficiency, glycogen storage disease type II) in children and adults can be challenging because of the heterogeneous clinical presentation and considerable overlap of signs and symptoms found ..
  65. ncbi Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa
    Ans T Van der Ploeg
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center University Hospital Sophia Children s Hospital, Dr Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands
    Mol Genet Metab 107:456-61. 2012
    ..This extension study was conducted to determine the durability of the efficacy and safety of alglucosidase alfa observed over a period of 78 weeks in the Late-Onset Treatment Study (LOTS)...
  66. ncbi Expanding the phenotype of late-onset Pompe disease: tongue weakness: a new clinical observation
    Alberto Dubrovsky
    Instituto de Neurociencias, Fundacion Favaloro, Buenos Aires, Argentina
    Muscle Nerve 44:897-901. 2011
    ..Following the clinical observation of lingual weakness in 2 patients with late-onset Pompe disease (LOPD), tongue strength was assessed in 19 consecutive patients to determine the frequency and severity of this neurological sign...
  67. ncbi Pompe disease: from new views on pathophysiology to innovative therapeutic strategies
    Giancarlo Parenti
    Department of Pediatrics, Federico II University, Naples, Italy
    Curr Pharm Biotechnol 12:902-15. 2011
    ..Pre-clinical studies demonstrated a synergistic effect of pharmacological chaperones and ERT. Other approaches, also in a pre-clinical stage, include substrate reduction and gene therapy...
  68. pmc The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease
    Suhrad G Banugaria
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Genet Med 13:729-36. 2011
    ....
  69. ncbi Diagnosis of glycogenosis type II
    B Bembi
    Regional Coordination Centre for Rare Diseases, University Hospital Santa Maria della Misericordia of Udine, Udine, Italy
    Neurology 71:S4-11. 2008
    ..In addition, the tests required for a confirmed diagnosis are described, and use of muscle imaging to evaluate muscle pathology is reviewed...
  70. ncbi Management and treatment of glycogenosis type II
    B Bembi
    Regional Coordination Centre for Rare Diseases, University Hospital Santa Maria della Misericordia of Udine, Udine, Italy
    Neurology 71:S12-36. 2008
    ..In addition, treatment of glycogenosis type II is reviewed with attention to emerging therapeutic options...
  71. ncbi Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening
    Tessel Rigter
    Department of Clinical Genetics EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 107:448-55. 2012
    ..The severely impaired health status reported here provides a strong argument for earlier diagnosis and to further explore the potential of neonatal screening for Pompe disease...
  72. ncbi Enzyme replacement therapy for Pompe disease
    Corrado Angelini
    Department of Neurosciences, Neuromuscular Laboratory, Campus Pietro d Abano, University of Padova, Via Orus 2, 35129, Padova, Italy
    Curr Neurol Neurosci Rep 12:70-5. 2012
    Late-onset glycogenosis type II (glycogen storage disease type II [GSDII]) is a rare autosomal disorder caused by deficiency of acid maltase, a lysosomal enzyme that hydrolyzes glycogen to glucose...
  73. ncbi Glycogen stored in skeletal but not in cardiac muscle in acid alpha-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme
    Nina Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Ther 6:601-8. 2002
    ..The results demonstrate that complete reversal of pathology in skeletal muscle or long-affected heart muscle will require much more enzyme than previously expected or a different approach...
  74. pmc The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients
    Carine I van Capelle
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Postbus 2060, 3000 CB, Rotterdam, The Netherlands
    J Inherit Metab Dis 35:317-23. 2012
    ..In conclusion, the Quick Motor Function Test can reliably rate clinical severity and motor function in children and adults with Pompe disease...
  75. ncbi Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand
    Nina Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892 1820, USA
    Autophagy 3:546-52. 2007
    ..We have previously shown excessive autophagy in a mouse model of Pompe disease (glycogen storage disease type II), a devastating myopathy caused by a deficiency of the glycogen-degrading lysosomal enzyme acid alpha-..
  76. ncbi Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited
    B G H Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Neuropathol Appl Neurobiol 33:544-59. 2007
    ..These findings may have implications for our understanding of the pathogenesis of GSD2 and for assessing therapeutic success of enzyme replacement therapy...
  77. ncbi Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease
    David Orlikowski
    Medical Intensive Care Unit, Raymond Poincaré Teaching Hospital, Garches, France
    Neuromuscul Disord 21:477-82. 2011
    ..The treatment was well tolerated. Alglucosidase alfa may stabilize or even slightly improve muscle strength and respiratory function among patients with severe Pompe disease...
  78. pmc The values and limits of an in vitro model of Pompe disease: the best laid schemes o' mice an' men
    Shoichi Takikita
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, USA
    Autophagy 5:729-31. 2009
    ..The cultured myotubes, therefore, appear to be a useful model for studying the mechanisms involved in glycogen accumulation in Pompe disease and to test substrate deprivation approaches...
  79. ncbi Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease
    Beth L Thurberg
    Department of Pathology, Genzyme Corporation, Framingham, MA 01701 9322, USA
    Lab Invest 86:1208-20. 2006
    ..As enzyme replacement therapy becomes more prevalent for the treatment of lysosomal storage diseases, such evaluation of post-treatment pathology will likely become a more common occurrence in the daily practice of pathologists...
  80. ncbi Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease
    N A M E Van der Beek
    Erasmus MC, University Medical Center, Department of Neurology, s Gravendijkwal 230, 3015 CE Rotterdam, The Netherlands
    Neuromuscul Disord 19:113-7. 2009
    ..These individual differences, especially in pulmonary dysfunction, indicate the need for regular monitoring every 6-12 months depending on the rate of disease progression...
  81. ncbi High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa
    Juna M de Vries
    Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, Rotterdam, The Netherlands
    Mol Genet Metab 101:338-45. 2010
    ..This case demonstrates that also patients with an appreciable amount of properly folded and catalytically active endogenous acid α-glucosidase can develop antibodies against alglucosidase alfa that affect the response to ERT...
  82. ncbi Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease
    A G Bijvoet
    Department of Clinical Genetics, Erasmus University, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Hum Mol Genet 7:53-62. 1998
    b>Glycogen storage disease type II (GSDII; Pompe disease), caused by inherited deficiency of acid alpha-glucosidase, is a lysosomal disorder affecting heart and skeletal muscles...
  83. ncbi Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study
    C I van Capelle
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Neuromuscul Disord 20:775-82. 2010
    ..They showed an average decline in pulmonary function of 1.6% and 5% per year. Data on muscle strength and function of untreated children were not available. Further studies are required...
  84. pmc Immune tolerance induction to enzyme-replacement therapy by co-administration of short-term, low-dose methotrexate in a murine Pompe disease model
    A Joseph
    Immunology Laboratory, Biologics R and D, Genzyme Corporation, Framingham, MA 01701, USA
    Clin Exp Immunol 152:138-46. 2008
    ..A consistent expansion of peritoneal B1 B cells was observed. Control over this B1 B cell response may be part of the complex mechanism of action of methotrexate-induced immune tolerance...
  85. ncbi Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial
    L Klinge
    Department of Paediatrics and Paediatric Neurology, University of Essen, Hufelandstrasse 55, 45 122 Essen, Germany
    Neuromuscul Disord 15:24-31. 2005
    ..This therapy was in general well-tolerated. There was an overall improvement in left ventricular mass, cardiac function, skeletal muscle function and histological appearance of skeletal muscle...
  86. ncbi High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology
    Colleen M Lynch
    Department of Pathology, Genzyme Corporation, One Mountain Road, Framingham, MA 01701 9322, USA
    J Histochem Cytochem 53:63-73. 2005
    ..Combining this method of tissue fixation with computer-assisted histomorphometry has provided us with what we believe is the most objective and reproducible means of evaluating histological glycogen load in Pompe disease...
  87. ncbi Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study
    L Klinge
    Department of Pediatrics and Pediatric Neurology, University of Essen, Essen, Germany
    Neuropediatrics 36:6-11. 2005
    ....
  88. ncbi Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program
    Yin Hsiu Chien
    Department of Pediatrics, National Taiwan University Hospital, National Taiwan University School of Medicine, Taipei, Taiwan
    Pediatrics 122:e39-45. 2008
    ..The aim of this study was to test the feasibility of screening newborns in Taiwan for Pompe disease by using a fluorometric enzymatic assay to determine acid alpha-glucosidase activity in dried blood spots...
  89. ncbi Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience
    Anupam Chakrapani
    Department of Clinical Inherited Metabolic Disorders, Birmingham Children s Hospital, Steelhouse Lane, Birmingham B4 6NH, UK
    J Inherit Metab Dis 33:747-50. 2010
    ..Careful consideration must be given to all possible outcomes, including LTV, before commencing enzyme replacement therapy in newly diagnosed infants...
  90. pmc Hearing loss in Pompe disease revisited: results from a study of 24 children
    Carine I van Capelle
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC University Medical Center Sophia Children s Hospital, Rotterdam, The Netherlands
    J Inherit Metab Dis 33:597-602. 2010
    ..The results emphasize the need for careful monitoring of auditory function in classic infantile Pompe patients, and for early implementation of hearing aids to protect speech and language development...
  91. ncbi CRIM-negative infantile Pompe disease: 42-month treatment outcome
    Marianne Rohrbach
    Division of Metabolism, University Children s Hospital Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland
    J Inherit Metab Dis 33:751-7. 2010
    ..The central nervous system (CNS) findings are hypothesized to be part of a yet not fully described CNS phenotype in treated patients with longer survival...
  92. ncbi Impact of late-onset Pompe disease on participation in daily life activities: evaluation of the Rotterdam Handicap Scale
    M L C Hagemans
    Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC Sophia, Dr Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands
    Neuromuscul Disord 17:537-43. 2007
    ..We conclude that the RHS seems suitable for this patient population and that Pompe disease has a large impact on the participation in daily life activities, in particular on the ability of patients to fulfil their work or study...
  93. ncbi Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation
    P Laforet
    Institut de Myologie and INSERM U523, Hopital de la Salpetriere, Paris, France
    Neurology 55:1122-8. 2000
    ..To characterize the phenotypes of patients with juvenile and adult-onset acid maltase deficiency (AMD) in the French population and correlate them with genetic defects...
  94. ncbi The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase
    John J Flanagan
    Amicus Therapeutics Inc, Cranbury, New Jersey 08512, USA
    Hum Mutat 30:1683-92. 2009
    ..Taken together, these data support further evaluation of DNJ as a potential treatment for Pompe disease in patients that express responsive forms of GAA...
  95. ncbi Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II
    Luis M Franco
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    Mol Ther 12:876-84. 2005
    b>Glycogen storage disease type II (GSD-II; Pompe disease) is caused by a deficiency of acid alpha-glucosidase (GAA; acid maltase) and manifests as muscle weakness, hypertrophic cardiomyopathy, and respiratory failure...
  96. pmc Pompe disease gene therapy
    Barry J Byrne
    Department of Pediatrics, University of Florida, 1600 SW Archer Road, Gainesville, FL 32610, USA
    Hum Mol Genet 20:R61-8. 2011
    ..We will cover the preliminary laboratory studies and rationale for a clinical trial, which is based on the treatment of the high rate of respiratory failure in the early-onset patients receiving ERT...
  97. ncbi A new diagnostic assay for glycogen storage disease type II in mixed leukocytes
    Toshika Okumiya
    Department of Clinical Genetics, Erasmus MC, P O Box 1738, 3000DR Rotterdam, The Netherlands
    Mol Genet Metab 88:22-8. 2006
    We have established a new method for the enzymatic diagnosis of glycogen storage disease type II (Pompe disease or acid maltase deficiency) using mixed leukocytes...
  98. pmc A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler)
    Trisha A Duffey
    Department of Chemistry, University of Washington, Seattle, WA 98195, USA
    Clin Chem 56:1854-61. 2010
    ....
  99. ncbi Cardiac involvement in adults with Pompe disease
    O I I Soliman
    Department of Cardiology, Thoraxcenter, Erasmus University Medical Center, Rotterdam, The Netherlands
    J Intern Med 264:333-9. 2008
    b>Glycogen storage disease type II or Pompe disease is a neuromuscular disorder caused by deficiency of lysosomal acid alpha- glucosidase. Classic infantile Pompe disease results in massive left ventricular (LV) hypertrophy and failure...
  100. ncbi Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts
    H W Yang
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Pediatr Res 43:374-80. 1998
    ....
  101. ncbi Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II
    M M Hermans
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Biochem Biophys Res Commun 179:919-26. 1991
    ..In homozygous form it leads to the severe infantile phenotype of glycogenosis type II...

Research Grants17

  1. Translational studies of GAA deficiency in bioengineered human muscle
    Dwight D Koeberl; Fiscal Year: 2013
    b>Glycogen storage disease type II (Pompe disease) is a fatal degenerative disease caused by the deficiency of acid-alpha glucosidase (GAA) or acid maltase...
  2. Phase 1/2 Study of Clenbuterol for the Treatment of Pompe Disease
    Dwight D Koeberl; Fiscal Year: 2013
    Pompe disease (Glycogen storage disease type II;acid maltase deficiency;MIM 232300) is a myopathy, similar to limb-girdle muscular dystrophy in its late-onset form, which results from acid a-glucosidase (GAA) deficiency in striated and ..
  3. Clinical Trial Planning in Pompe Disease
    Dwight D Koeberl; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Pompe disease (glycogen storage disease type II;acid maltase deficiency;MIM 232300) is a myopathy that results from acid a-glucosidase (GAA) deficiency in striated and smooth muscle...
  4. Gene Therapy for Cardiac and Skeletal Myopathies
    Darin J Falk; Fiscal Year: 2011
    DESCRIPTION (provided by applicant): Pompe disease (1:40000 live births, glycogen storage disease type II, acid maltase deficiency;MIM 232300) is characterized by severe cardiomyopathy and respiratory muscle weakness that affects ..
  5. Recombinant AAV for Correctional Genetic Abnormalities Project 4: Strategies for
    Barry Byrne; Fiscal Year: 2009
    b>Glycogen storage disease type II (GSD II) is a prototypic metabolic storage disease resulting from a single gene defect. The availability of a mouse model has provided a forum in which to assess gene replacement therapy...
  6. Mechanisms for immune tolerance in Pompe Disease
    Dwight D Koeberl; Fiscal Year: 2010
    ..These comparisons will guide preclinical experiments to further immunomodulatory gene therapy in Pompe disease and other lysosomal storage disorders. ..
  7. Gene delivery to striated muscle by systemic AAV vectors
    Dwight D Koeberl; Fiscal Year: 2010
    ..Efficacious muscle-targeted gene therapy in GSD-II will have implications for gene therapy in other muscular dystrophies and myopathies. ..
  8. GLYCOGEN STORAGE DISEASE TREATMENT: HEPATIC GENE THERAPY
    Barry Byrne; Fiscal Year: 2002
    ..These studies will yield important new information in establishing a clinically relevant treatment for these fatal diseases and add new understanding to the basic pathophysiology of GSD. ..
  9. Computer Adaptive Testing of Pediatric Self-care and Social Function
    Stephen Haley; Fiscal Year: 2006
    ..Many rehabilitation settings may also find this measure helpful in meeting accreditation and institutional requirements for standardizing outcome monitoring in groups of children. [unreadable] [unreadable] [unreadable]..
  10. Computer Adaptive Testing of Functional Status
    Stephen Haley; Fiscal Year: 2008
    ..abstract_text> ..
  11. Computer Adaptive Testing of Post-Acute Care Functioning
    Stephen Haley; Fiscal Year: 2004
    ..abstract_text> ..
  12. Phenylalanine Hydroxylase Deficiency: Response to BH4
    Reuben Matalon; Fiscal Year: 2002
    ..Treatment with BH4 should lead to a better outcome for PKU patients and for maternal PKU. ..
  13. Preschool Vision Screening in Primary Care Settings
    Alex Kemper; Fiscal Year: 2007
    ....
  14. MOLECULAR MECHANISM IN TYPE III GLYCOGEN STORAGE DISEASE
    Yuan Tsong Chen; Fiscal Year: 2002
    ....
  15. KNOCKOUT MODEL FOR CANAVAN DISEASE
    Reuben Matalon; Fiscal Year: 2001
    ..5) The knock-out mouse will be used in future studies for determining the metabolic role of NAA in brain, for experimentation with enzyme therapy and gene therapy. ..
  16. RESPONSE OF PHENYLKETONURIA TO TETRAHYDROBIOPTERIN (BH4)
    Reuben Matalon; Fiscal Year: 2007
    ..Abstract Not Provided ..