1,807 results match your criteria Glycogen Storage Disease Type II Pompe Disease


Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study.

Neuromuscul Disord 2018 Dec 17. Epub 2018 Dec 17.

Erasmus Medical Center, Pompe Center, Rotterdam, The Netherlands.

This multicenter/multinational, open-label, ascending-dose study (NCT01898364) evaluated safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of repeat-dose avalglucosidase alfa (neoGAA), a second-generation, recombinant acid α-glucosidase replacement therapy, in late-onset Pompe disease (LOPD). Patients ≥18 years, alglucosidase alfa naïve (Naïve) or previously receiving alglucosidase alfa for ≥9 months (Switch), with baseline FVC ≥50% predicted and independently ambulatory, received every-other-week avalglucosidase alfa 5, 10, or 20 mg/kg over 24 weeks. 9/10 Naïve and 12/14 Switch patients completed the study. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.12.004DOI Listing
December 2018

Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy.

Neuromuscul Disord 2018 Dec 15. Epub 2018 Dec 15.

Unidad de Oncogenética Molecular, Instituto de Genética Médica y Molecular (INGEMM), Edificio Quirúrgico Planta-2, Hospital Universitario La Paz, 28046 Madrid, Spain; Department of Biochemistry, Faculty of Medicine, Autonoma University of Madrid, 28046 Madrid, Spain. Electronic address:

Glycogen storage disease type II, or Pompe disease, is an autosomal recessive disorder caused by deficiency of lysosomal acid alpha-glucosidase (GAA). We performed genetic analysis to confirm the diagnosis of Pompe disease in a 61-year-old patient with progressive weakness in extremities, severe Sleep Apnea-Hypopnea Syndrome, a significant reduction of alpha-glucosidase in liquid sample of peripheral blood and muscular biopsy diagnosis. GAA gene sequencing showed the patient is homozygous for the splice-site mutation c. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.12.003DOI Listing
December 2018

An evolutionary approach to optimizing glucose-6-phosphatase-α enzymatic activity for gene therapy of glycogen storage disease type Ia.

J Inherit Metab Dis 2019 Feb 3. Epub 2019 Feb 3.

Section on Cellular Differentiation, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health.

Glycogen storage disease type-Ia (GSD-Ia), caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC), is characterized by impaired glucose homeostasis with a hallmark hypoglycemia, following a short fast. We have shown that G6pc-deficient (G6pc-/-) mice treated with recombinant adeno-associated virus (rAAV) vectors expressing either wild-type (WT) (rAAV-hG6PC-WT) or codon-optimized (co) (rAAV-co-hG6PC) human (h) G6Pase-α maintain glucose homeostasis if they restore ≥3% of normal hepatic G6Pase-α activity. The codon-optimized vector, which has a higher potency, is currently being used in a phase I/II clinical trial for human GSD-Ia (NCT 03517085). Read More

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http://dx.doi.org/10.1002/jimd.12069DOI Listing
February 2019
7 Reads

Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.

Mol Genet Metab 2019 Feb 23;126(2):106-116. Epub 2018 Aug 23.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, 905 S. LaSalle street, GSRB1, Durham, NC, USA. Electronic address:

Background: Individuals with late-onset Pompe disease (LOPD) and the common c.-32-13 T > G variant are widely thought to have milder, adult-onset disease. This belief, and the consequent low suspicion of clinical involvement in children, has led to delays in diagnosis and treatment initiation in patients with early onset of symptoms. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183028
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http://dx.doi.org/10.1016/j.ymgme.2018.08.009DOI Listing
February 2019
8 Reads

Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease.

Ochsner J 2018 ;18(4):413-416

Department of Pediatrics, Ochsner Hospital for Children, Ochsner Clinic Foundation, New Orleans, LA.

Background: Pompe disease is a lysosomal storage disorder that results from an inborn error of metabolism involving abnormal glycogen storage. Infantile-onset Pompe disease is the most severe phenotype, and enzyme replacement therapy with alglucosidase alfa (Lumizyme) improves medical and functional outcomes in patients with infantile-onset Pompe disease.

Case Report: We report the case of a patient with infantile-onset Pompe disease who presented with severe hypertrophic cardiomyopathy, systolic and diastolic cardiac dysfunction, and hypotonia. Read More

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http://dx.doi.org/10.31486/toj.18.0049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292475PMC
January 2018

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease.

Acta Neuropathol Commun 2018 Nov 7;6(1):119. Epub 2018 Nov 7.

Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.

Pompe disease is a metabolic myopathy that is caused by glycogen accumulation as a result of deficiency of the lysosomal enzyme acid alpha glucosidase (GAA). Previously, we showed that adult muscle stem cells termed satellite cells are present at normal levels in muscle from patients with Pompe disease, but that these are insufficiently activated to repair the severe muscle pathology. Here we characterized the muscle regenerative response during disease progression in a mouse model of Pompe disease and investigated the intrinsic capacity of Gaa satellite cells to regenerate muscle damage. Read More

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https://actaneurocomms.biomedcentral.com/articles/10.1186/s4
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http://dx.doi.org/10.1186/s40478-018-0620-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220463PMC
November 2018
10 Reads

Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice.

Carcinogenesis 2018 Nov 7. Epub 2018 Nov 7.

Department of Surgery, University of Colorado-Anschutz Medical Campus, Aurora, CO, USA.

Amylo-α-1,6-glucosidase,4-α-glucanotransferase (AGL) is an enzyme primarily responsible for glycogen debranching. Germline mutations lead to glycogen storage disease type III (GSDIII). We recently found AGL to be a tumor suppressor in xenograft models of human bladder cancer (BC) and low levels of AGL expression in BC are associated with poor patient prognosis. Read More

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https://academic.oup.com/carcin/advance-article/doi/10.1093/
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http://dx.doi.org/10.1093/carcin/bgy139DOI Listing
November 2018
6 Reads

36-Months follow-up assessment after cessation and resuming of enzyme replacement therapy in late onset Pompe disease: data from the Swiss Pompe Registry.

J Neurol 2018 Dec 19;265(12):2783-2788. Epub 2018 Sep 19.

Department of Neurology, Cantonal Hospital, 9007, St. Gallen, Switzerland.

Introduction: Although not curative, enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase enzyme has shown to be effective in the treatment of late-onset Pompe disease (LOPD). For this potentially life-long treatment, little is known on the clinical effect of cessation and resuming ERT. Due to a Swiss supreme court decision on ERT reimbursement, a temporary stop of ERT occurred in our study population. Read More

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http://dx.doi.org/10.1007/s00415-018-9065-7DOI Listing
December 2018

Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease - need for an earlier treatment?

Eur J Neurol 2018 10;25(10):e111

Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.

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http://doi.wiley.com/10.1111/ene.13730
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http://dx.doi.org/10.1111/ene.13730DOI Listing
October 2018
10 Reads

Acute respiratory failure as presentation of late-onset Pompe disease complicating the diagnostic process as a labyrinth: a case report.

Multidiscip Respir Med 2018 1;13:32. Epub 2018 Sep 1.

Department of Medical Specialties, Pneumology Unit, Arcispedale Santa Maria Nuova, Azienda USL di Reggio Emilia- IRCCS, Via Amendola 2, 42122 Reggio Emilia, Italy.

Background: Acute respiratory failure can be triggered by several causes, either of pulmonary or extra-pulmonary origin. Pompe disease, or type II glycogen storage disease, is a serious and often fatal disorder, due to a pathological accumulation of glycogen caused by a defective activiy of acid α-glucosidase (acid maltase), a lysosomal enzyme involved in glycogen degradation. The prevalence of the disease is estimated between 1 in 40,000 to 1 in 300,000 subjects. Read More

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http://dx.doi.org/10.1186/s40248-018-0145-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119261PMC
September 2018
6 Reads

Low Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses.

J Neuromuscul Dis 2018 ;5(4):471-480

Department of Neurology, Centre de Référence Neuromusculaire, Hôpital Erasme, Université Libre de Bruxelles, Route de Lennik 808, 1070 Brussels, Belgium.

Background: Late-onset glycogen storage disease type II is associated with variable muscle phenotypes. Epidemiological data suggest that its prevalence is lower in Belgium than in bordering countries like The Netherlands.

Objective: We investigated whether such low estimated prevalence is due to missed diagnoses. Read More

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http://www.medra.org/servlet/aliasResolver?alias=iospress&am
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http://dx.doi.org/10.3233/JND-180336DOI Listing
January 2019
2 Reads

Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care.

Eur J Paediatr Neurol 2018 Nov 18;22(6):1103-1109. Epub 2018 Aug 18.

Department of Neuroscience, Division of Neurology and Neuromuscular Diseases, Turin University Hospital, Corso Bramante 88/90, 10126, Turin, Italy.

Background: Pompe disease (PD) is a rare condition caused by mutations in gene encoding for the enzyme alpha-glucosidase, resulting in an abnormal intracellular accumulation of glycogen. The disease clinical spectrum ranges from severe infantile forms to adult-onset forms with minor limitations. Since 2000 enzyme replacement therapy (ERT) is available and disease natural history has changed, with prolonged survival and evidence of myopathic features. Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.08.001DOI Listing
November 2018
1 Read

A Case of Adult-onset Pompe Disease with Cerebral Stroke and Left Ventricular Hypertrophy.

J Stroke Cerebrovasc Dis 2018 Nov 6;27(11):3046-3052. Epub 2018 Aug 6.

Advanced Clinical Research Center, Institute of Neurological Disorders, Kawasaki, Kanagawa, Japan; Department of Gene Therapy, Institute for deoxyribonucleic acid (DNA) Medicine, The Jikei University School of Medicine, Tokyo, Japan. Electronic address:

Background: Pompe disease is an autosomal recessive glycogen storage disorder caused by a deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase. The adult-onset form, late-onset Pompe disease, has been characterized by glycogen accumulation, primarily in skeletal and smooth muscles, causing weakness of the proximal limb girdle and respiratory compromises.

Case Report: A 59-year-old female was admitted to the hospital with acute cerebral stroke at the age of 57years. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10523057183037
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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2018.06.043DOI Listing
November 2018
16 Reads

Renal artery fibromuscular dysplasia in Pompe disease: A case report.

Mol Genet Metab Rep 2018 Sep 26;16:64-65. Epub 2018 Jul 26.

Centre de Référence Neuromusculaire Nord/Est/Ile de France, AP-HP, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013 Paris, France.

Vascular involvement in Late Onset Pompe Disease, glycogen storage disease type II characterized by limb-girdle muscle and diaphragmatic weakness, is well documented. Abnormalities of posterior cerebral circulation have mostly been reported, whereas there are also cases of associated extracerebral arteriopathy. We report the case of a 42-year-old man diagnosed with LOPD a year after renal infarct due to renal artery fibromuscular dysplasia. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22144269183006
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http://dx.doi.org/10.1016/j.ymgmr.2018.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078050PMC
September 2018
21 Reads

The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.

Mol Genet Metab Rep 2018 Jun 7;15:50-54. Epub 2018 Feb 7.

Department of Medical Genetics, KFSH&RC, Riyadh, Saudi Arabia.

Infantile-Onset Pompe Disease (IOPD) is an autosomal recessive disorder of glycogen metabolism resulting from deficiency of the lysosomal hydrolase acid α-glucosidase encoded by gene. Affected infants present before the age of 12 months with hypotonia, muscle weakness, and hypertrophic cardiomyopathy. Enzyme replacement therapy (ERT) has been shown to improve survival, cardiac mass, and motor skills. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2018.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047460PMC
June 2018
7 Reads

[Research advances in the diagnosis and treatment of Pompe disease].

Zhongguo Dang Dai Er Ke Za Zhi 2018 Jul;20(7):588-593

Department of Ultrasound, Shengjing Hospital of China Medical University, Shenyang 110004, China.

Pompe disease, also called type II glycogen storage disease, is a rare autosomal recessive inherited disease caused by the storage of glycogen in lysosome due to acid α-glucosidase (GAA) deficiency, with the most severe conditions in the skeletal muscle, the myocardium, and the smooth muscle. Patients may have the manifestations of dyspnea and dyskinesia, with or without hypertrophic cardiomyopathy. GAA gene mutation has ethnic and regional differences, and new mutation sites are found with the advances in research. Read More

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July 2018
12 Reads

Elevated Creatine Kinase in a 6-Year-Old Boy.

Semin Pediatr Neurol 2018 07 1;26:46-49. Epub 2017 Apr 1.

Children's Neuroscience Centre, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia; Murdoch Childrens Research Institute, Melbourne, Victoria, Australia; The University of Melbourne, Melbourne, Victoria, Australia.

Paucisymptomatic or asymptomatic but persistently elevated serum creatine kinase is not an uncommon pediatric neurology referral question. The challenge is in promptly identifying etiologies with specific treatments, even if they are rare. The presenting features for a child or adolescent with juvenile-onset Pompe disease (JOPD) can be nonspecific and heterogeneous. Read More

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http://dx.doi.org/10.1016/j.spen.2017.03.003DOI Listing
July 2018
4 Reads

Glycophagy: An emerging target in pathology.

Clin Chim Acta 2018 Sep 9;484:298-303. Epub 2018 Jun 9.

Institute of Pharmacy and Pharmacology, Hunan Province Cooperative Innovation Center for Molecular Target New Drugs Study, University of South China, Hengyang 421001, China. Electronic address:

Autophagy, a highly conserved self-digestion process, is initially regarded as non-selectively sequestering and degradation cytoplasmic contents. Nowadays, many kinds of selective autophagy have been found in response to various physiological cues such as mitophagy, reticulophagy and glycophagy. Glycophagy, as a selective autophagy, plays a crucial role in maintaining glucose homeostasis in many tissues including heart, liver and skeletal muscles. Read More

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http://dx.doi.org/10.1016/j.cca.2018.06.014DOI Listing
September 2018
2 Reads

Therapeutic Benefit of Autophagy Modulation in Pompe Disease.

Mol Ther 2018 Jul 3;26(7):1783-1796. Epub 2018 May 3.

Cell Biology and Physiology Center, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, USA. Electronic address:

The complexity of the pathogenic cascade in lysosomal storage disorders suggests that combination therapy will be needed to target various aspects of pathogenesis. The standard of care for Pompe disease (glycogen storage disease type II), a deficiency of lysosomal acid alpha glucosidase, is enzyme replacement therapy (ERT). Many patients have poor outcomes due to limited efficacy of the drug in clearing muscle glycogen stores. Read More

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http://dx.doi.org/10.1016/j.ymthe.2018.04.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035739PMC
July 2018
3 Reads

Pulmonary Hypertension in Glycogen Storage Disease Type II.

Chin Med J (Engl) 2018 Jun;131(11):1375-1376

National Clinical Research Center for Respiratory Disease; 0Center for Respiratory Disease, China-Japan Friendship Hospital, Beijing 100029, China; Department of Pulmonary and Critical Care Medicine, China-Japan Friendship Hospital, Beijing 100029, China.

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http://dx.doi.org/10.4103/0366-6999.232792DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987515PMC
June 2018
6 Reads

Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry.

Acta Myol 2017 Dec 1;36(4):191-198. Epub 2017 Dec 1.

Center for Neuromuscular Diseases "Paolo Peirolo", Department of Neuroscience "Rita Levi Montalcini", University of Turin, Italy.

Intrafibral vacuoles are the morphological hallmark in a wide variety of human skeletal muscle disorders with different etiology. In most cases, differential diagnosis is feasible with a routine histochemical work up of muscle biopsy. Ultrastructural analysis is an important confirmatory tool, but it is not widely available. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953231PMC
December 2017
5 Reads

A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy.

Iran J Med Sci 2018 Mar;43(2):218-222

Department of Pediatrics, Fasa University of Medical sciences, Fasa, Iran.

Pompe disease (PD), also known as "glycogen storage disease type II (OMIM # 232300)" is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypotonia. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5936855PMC
March 2018
2 Reads

Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?

Arq Neuropsiquiatr 2018 Apr;76(4):247-251

Departamento de Clínica Médica, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brasil.

Pompe disease is an inherited disease caused by acid alpha-glucosidase (GAA) deficiency. A single center observational study aimed at assessing the prevalence of late-onset Pompe disease in a high-risk Brazilian population, using the dried blood spot test to detect GAA deficiency as a main screening tool. Dried blood spots were collected for GAA activity assay from 24 patients with "unexplained" limb-girdle muscular weakness without vacuolar myopathy in their muscle biopsy. Read More

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http://dx.doi.org/10.1590/0004-282x20180018DOI Listing
April 2018
2 Reads

Clostridium difficile cure with fecal microbiota transplantation in a child with Pompe disease: a case report.

Authors:
D E Dow P C Seed

J Med Case Rep 2018 Apr 28;12(1):112. Epub 2018 Apr 28.

Division of Infectious Diseases, Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Evanston, USA.

Background: Recurrent Clostridium difficile infection is a growing problem among children due to both the increasing survival of medically fragile children with complicated chronic medical conditions resulting in prolonged antibiotic exposure and hospitalization and the emergence of strains of Clostridium difficile that are hypervirulent and associated with high rates of relapse.

Case Presentation: This case describes a medically complex 21-month-old Hispanic girl with Pompe disease and B cell immunodeficiency with recurrent Clostridium difficile infection refractory to antimicrobial management. She presented with nine recurrent episodes of Clostridium difficile infection including fever, foul smelling diarrhea, and respiratory distress with failed sustained responses to compliant treatment using metronidazole and pulsed vancomycin therapy. Read More

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http://dx.doi.org/10.1186/s13256-018-1659-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924470PMC
April 2018
13 Reads

A mobile app for patients with Pompe disease and its possible clinical applications.

Neuromuscul Disord 2018 Jun 12;28(6):471-475. Epub 2018 Mar 12.

Department of Clinical and Experimental Medicine, University of Pisa, via Roma 67, 56126 Pisa, Italy. Electronic address:

In recent years, the potential of smart technology to provide innovative solutions for disease management has raised high expectations for patients' and healthcare professionals' community. We developed a mobile app, called AIGkit, specifically designed for adult patients with Pompe disease, with the aim to help them manage the burden of illness-related factors, and also to provide clinicians with continuous tracking of each patient in real-time and ambient conditions of everyday life. We present the AIGkit as an innovative approach exploiting cutting-edge technology to improve quality of care and research into neuromuscular disorders. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.03.005DOI Listing
June 2018
7 Reads
2.640 Impact Factor

Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening.

J Pediatr 2018 07 4;198:308-312. Epub 2018 Apr 4.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC. Electronic address:

Based on a review of a large patient cohort, published literature, and 3 newborn screening cohorts, we concluded that children diagnosed through newborn screening with late-onset Pompe disease and the common heterozygous c.-32-13T>G variant require frequent cardiac follow-up with electrocardiography for arrhythmias. However, there is limited evidence for performing repeated echocardiography for cardiomyopathy. Read More

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http://dx.doi.org/10.1016/j.jpeds.2018.02.007DOI Listing
July 2018
5 Reads

Novel Pompe disease phenotype: a treatment-related modified phenotype neglecting the brain.

Authors:
Benedikt Schoser

Dev Med Child Neurol 2018 06 30;60(6):536. Epub 2018 Mar 30.

Department of Neurology, Friedrich-Baur-Institut, Ludwig-Maximilians-University Munich, Munich, Germany.

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http://doi.wiley.com/10.1111/dmcn.13762
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http://dx.doi.org/10.1111/dmcn.13762DOI Listing
June 2018
1 Read

Perioperative management of children with glycogen storage disease type II-Pompe disease.

Paediatr Anaesth 2018 05 25;28(5):428-435. Epub 2018 Mar 25.

Department of Anesthesiology, Erasmus MC-Sophia Children's Hospital, University Medical Centre, Rotterdam, The Netherlands.

Background: Pompe disease is a rare metabolic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase. Glycogen accumulation damages skeletal, cardiac, and smooth muscles, causing a progressive and debilitating muscle weakness and cardiomyopathy. As life expectancy has much improved since the introduction of enzyme replacement therapy an increasing number of patients are referred for surgical procedures. Read More

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http://dx.doi.org/10.1111/pan.13361DOI Listing
May 2018
8 Reads

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.

Dev Med Child Neurol 2018 06 24;60(6):579-586. Epub 2018 Mar 24.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands.

Aim: To examine the long-term consequences of glycogen storage in the central nervous system (CNS) for classic infantile Pompe disease using enzyme replacement therapy.

Method: Using neuropsychological tests and brain magnetic resonance imaging (MRI), we prospectively assessed a cohort of 11 classic infantile Pompe patients aged up to 17 years.

Results: From approximately age 2 years onwards, brain MRI showed involvement of the periventricular white matter and centrum semiovale. Read More

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http://dx.doi.org/10.1111/dmcn.13740DOI Listing
June 2018
37 Reads

Pompe disease: An Indian series diagnosed on muscle biopsy by ultrastructural characterization.

Ultrastruct Pathol 2018 May-Jun;42(3):211-219. Epub 2018 Mar 22.

a Department of Pathology , All India Institute of Medical Sciences , New Delhi , India.

Pompe disease (PD) is a lysosomal storage disorder characterized by glycogen accumulation in muscle, with infantile-onset (IOPD) and late-onset (LOPD) types. Nineteen cases of PD were diagnosed over a 14-year period on muscle biopsy by ultrastructural examination. Pools of glycogen (intralysosomal and cytoplasmic) and excessive phagocytosis were seen in myofibers on electron microscopy. Read More

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http://dx.doi.org/10.1080/01913123.2018.1447624DOI Listing
October 2018
20 Reads

2-deoxy-2-[18]fluoro-D-glucose PET/CT (18FDG PET/CT) may not be a viable biomarker in Pompe disease.

Hum Genomics 2018 03 9;12(1):14. Epub 2018 Mar 9.

Department of Diagnostic, Interventional and Pediatric Radiology, Inselspital Bern University Hospital, University of Bern, Bern, Switzerland.

Background: Pompe disease (PD) is an autosomal recessive, lysosomal storage disease due to a mutation of the acid α-glucosidase (GAA) gene. In adult patients, PD is characterized by slowly progressive limb-girdle and trunk myopathy and restrictive respiratory insufficiency. Enzyme replacement therapy (ERT) is available, improving or stabilizing muscle-function in some and slowing deterioration in other patients. Read More

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http://dx.doi.org/10.1186/s40246-018-0145-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5845361PMC
March 2018
6 Reads

Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.

Chin Med J (Engl) 2018 Feb;131(4):448-453

Department of Neurology, Chinese People's Liberation Army General Hospital, Beijing 100853; School of Medicine, Nankai University, Tianjin 300071, China.

Background: Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype correlations are still not well understood. The aim of this study was to report the clinicopathological and genetic characteristics of five Chinese patients with late-onset Pompe disease (LOPD) who carried novel GAA gene mutations. Read More

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http://dx.doi.org/10.4103/0366-6999.225056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5830830PMC
February 2018
5 Reads

[A new phenotype of infantile-onset Pompe disease].

Rev Neurol 2018 Feb;66(4):121-124

Hospital Infantil Universitario Nino Jesus, 28009 Madrid, Espana.

Introduction: Infantile-onset Pompe disease is a kind of glycogenosis resulting from a deficit of the enzyme acid alpha-glucosidase. Before specific enzyme replacement therapy (ERT) became available, the classic form was fatal during the first two years of life. ERT increases survival and improves cardiac, respiratory and motor functioning. Read More

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February 2018
2 Reads

Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?

J Inherit Metab Dis 2018 Nov 12;41(6):985-995. Epub 2018 Feb 12.

Department of Translational Medical Science, Section of Pediatrics, Federico II University, Via Sergio Pansini, 5, 80131, Naples, Italy.

Background: Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb). GSDIa patients are at higher risk of developing insulin-resistance (IR). Mitochondrial dysfunction has been implicated in the development of IR. Read More

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http://dx.doi.org/10.1007/s10545-018-0149-4DOI Listing
November 2018
11 Reads

High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy.

J Pediatr 2018 04 7;195:236-243.e3. Epub 2018 Feb 7.

Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands; Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands. Electronic address:

Objective: To evaluate whether immunomodulation at start of enzyme replacement therapy induces immune tolerance to recombinant human acid alpha-glucosidase (rhGAA) in patients with classic infantile Pompe disease.

Study Design: Three patients (1 cross reactive immunologic material negative, 2 cross reactive immunologic material positive) were treated with 4 weekly doses of rituximab, weekly methotrexate, and monthly intravenous immunoglobulin and enzyme replacement therapy at 40 mg/kg/week. Antibody titers were measured using enzyme-linked immunosorbent assay. Read More

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http://dx.doi.org/10.1016/j.jpeds.2017.11.046DOI Listing
April 2018
6 Reads

Infantile-onset Pompe disease with neonatal debut: A case report and literature review.

Medicine (Baltimore) 2017 Dec;96(51):e9186

Department of Neonatology-Pediatrics.

Rationale: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early treatment.

Patient Concerns: We report a case of a newborn with infantile-onset Pompe disease diagnosed in the first days of life who did not undergo universal neonatal screening. Read More

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http://dx.doi.org/10.1097/MD.0000000000009186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758162PMC
December 2017
8 Reads

[A case of glycogen storage disease type II and related analysis].

Zhonghua Gan Zang Bing Za Zhi 2017 Dec;25(12):942-943

Second department of hepatology, Beijing Ditan Hospital, Capital Medical University, Beijing 100015, China.

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http://dx.doi.org/10.3760/cma.j.issn.1007-3418.2017.12.012DOI Listing
December 2017
6 Reads

Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy.

PLoS One 2018 9;13(1):e0190784. Epub 2018 Jan 9.

Department of Diagnostic and Interventional Radiology, Section of Pediatric Radiology, Medical Center of the Johannes Gutenberg University, Mainz, Germany.

Objective: The objective of this study was to evaluate a quantitative method based on conventional T1-weighted magnetic resonance (MR) imaging to assess fatty muscular degeneration in patients with late-onset Pompe disease and to compare it with semi-quantitative visual evaluation (the Mercuri score). In addition, a long-term retrospective data analysis was performed to evaluate treatment response to enzyme replacement therapy with alglucosidase alfa.

Methods: MR images of the lumbar spine were acquired in 41 patients diagnosed with late-onset Pompe disease from 2006 through 2015. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0190784PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760036PMC
February 2018
20 Reads

Efficient therapy of Pompe disease by an acid α-glucosidase conjugate.

Authors:
Kinam Park

J Control Release 2018 01;269:441-442

Purdue University Biomedical Engineering and PharmaceuticsWest Lafayette, IN 47907, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jconrel.2017.12.010DOI Listing
January 2018
3 Reads

Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.

Mol Genet Metab 2018 02 23;123(2):92-96. Epub 2017 Dec 23.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address:

Patients with Pompe disease have realized significant medical benefits due to enzyme replacement therapy (ERT) infusions with alglucosidase alfa. However, regular infusions are time-consuming. Utilizing recommended infusion rates, infusion duration is 3h 45min for a patient receiving the standard dose of 20mg/kg, not including additional time needed for preparation of ERT, assessment of vital signs, intravenous access, and post-infusion monitoring. Read More

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http://dx.doi.org/10.1016/j.ymgme.2017.12.435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808871PMC
February 2018
9 Reads

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.

J Vis Exp 2017 12 20(130). Epub 2017 Dec 20.

Albrecht-Kossel-Institute, University Rostock Medical Center; Centogene AG.

The use of personalized medicine to treat rare monogenic diseases like lysosomal storage disorders (LSDs) is challenged by complex clinical trial designs, high costs, and low patient numbers. Hundreds of mutant alleles are implicated in most of the LSDs. The diseases are typically classified into 2 to 3 different clinical types according to severity. Read More

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http://dx.doi.org/10.3791/56550DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5755676PMC
December 2017
8 Reads

Four unreported types of glycans containing mannose-6-phosphate are heterogeneously attached at three sites (including newly found Asn 233) to recombinant human acid alpha-glucosidase that is the only approved treatment for Pompe disease.

Biochem Biophys Res Commun 2018 01 20;495(4):2418-2424. Epub 2017 Dec 20.

Biotherapeutics and Glycomics Laboratory, College of Pharmacy, Chung-Ang University, 84 Heukseok-ro, Dongjak-gu, Seoul 06944, South Korea. Electronic address:

Myozyme is a recombinant human acid alpha-glucosidase (rhGAA) that is currently the only drug approved for treating Pompe disease, and its low efficacy means that a high dose is required. Mannose-6-phosphate (M6P) glycosylation on rhGAA is a key factor influencing lysosomal enzyme targeting and the efficacy of enzyme replacement therapy (ERT); however, its complex structure and relatively small quantity still remain to be characterized. This study investigated M6P glycosylation on rhGAA using liquid chromatography (LC)-electrospray ionization (ESI)-high-energy collisional dissociation (HCD) tandem mass spectrometry (MS/MS). Read More

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http://dx.doi.org/10.1016/j.bbrc.2017.12.101DOI Listing
January 2018
9 Reads

Selective Spinal Fusion for Neuromuscular Scoliosis in a Patient with Pompe Disease: A Case Report and Review of the Literature.

JBJS Case Connect 2017 Jan-Mar;7(1):e15

1Department of Orthopedic Surgery (A.T., S.T., T.M., and H.N.) and Division of Child Neurology (A.N. and Y.M.), Faculty of Medicine, Tottori University, Tottori, Japan.

Case: A 16-year-old girl with Pompe disease underwent surgery for scoliosis. She had been able to walk without any assistance, and kept her balance by swinging her waist. Therefore, we performed posterior selective spinal correction and fusion to avoid any adverse effects on walking ability that could occur with immobilization of the lumbosacral spine. Read More

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http://Insights.ovid.com/crossref?an=01709767-201707010-0001
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http://dx.doi.org/10.2106/JBJS.CC.16.00137DOI Listing
July 2018
10 Reads

Aberrant proliferation and differentiation of glycogen storage disease type Ib mesenchymal stem cells.

FEBS Lett 2018 01 3;592(2):162-171. Epub 2018 Jan 3.

Department of Biotechnology and Bioinformatics, College of Science and Technology, Korea University, Sejong, Korea.

Glycogen storage disease type Ib (GSD-Ib) is caused by mutations of the glucose-6-phosphate transporter (G6PT) and characterized by disrupted glucose homeostasis, neutropenia, and neutrophil dysfunction. To investigate the role of G6PT in human adipose-derived mesenchymal stem cells (hMSCs), the G6PT gene was mutated by CRISPR/Cas9 technology and single cell-derived G6PT hMSCs were established. G6PT hMSCs have significantly increased cell proliferation but impaired adipogenesis and osteogenesis. Read More

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http://dx.doi.org/10.1002/1873-3468.12939DOI Listing
January 2018
11 Reads

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease.

Orphanet J Rare Dis 2017 12 13;12(1):179. Epub 2017 Dec 13.

Erasmus School of Health Policy & Management, Erasmus University Rotterdam, Rotterdam, the Netherlands.

Background: Pompe disease is a rare, progressive, metabolic disease, and the first treatable inheritable muscle disorder. Enzyme replacement therapy (ERT) with alglucosidase alfa is disease specific and the only medicinal product authorized for the treatment of Pompe disease. Costs of ERT are very high as for most orphan drugs. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0
Publisher Site
http://dx.doi.org/10.1186/s13023-017-0731-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729274PMC
December 2017
8 Reads

Abnormal tongue features as a clinical clue for late-onset Pompe's disease.

Arq Neuropsiquiatr 2017 Nov;75(11):835-836

Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Divisão de Doenças Neuromuscular, São Paulo SP, Brasil.

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http://dx.doi.org/10.1590/0004-282X20170130DOI Listing
November 2017
3 Reads

Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase.

Sci Transl Med 2017 Nov;9(418)

INTEGRARE, Genethon, Inserm, Univ Evry, Université Paris-Saclay, 91002 Evry, France.

Glycogen storage disease type II or Pompe disease is a severe neuromuscular disorder caused by mutations in the lysosomal enzyme, acid α-glucosidase (GAA), which result in pathological accumulation of glycogen throughout the body. Enzyme replacement therapy is available for Pompe disease; however, it has limited efficacy, has high immunogenicity, and fails to correct pathological glycogen accumulation in nervous tissue and skeletal muscle. Using bioinformatics analysis and protein engineering, we developed transgenes encoding GAA that could be expressed and secreted by hepatocytes. Read More

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http://dx.doi.org/10.1126/scitranslmed.aam6375DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5826611PMC
November 2017
66 Reads

Pompe disease in Austria: clinical, genetic and epidemiological aspects.

J Neurol 2018 Jan 27;265(1):159-164. Epub 2017 Nov 27.

Department of Neurology, Medical University Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.

In this study, we performed a survey of infantile and late-onset Pompe disease (IOPD and LOPD) in Austria. Paediatric and neuromuscular centres were contacted to provide a set of anonymized clinical and genetic data of patients with IOPD and LOPD. The number of patients receiving enzyme replacement therapy (ERT) was obtained from the pharmaceutical company providing alglucosidase alfa. Read More

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http://dx.doi.org/10.1007/s00415-017-8686-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760608PMC
January 2018
4 Reads

Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse.

Mol Genet Metab 2018 01 21;123(1):21-27. Epub 2017 Nov 21.

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. Electronic address:

Background: McArdle disease (glycogen storage disease type V) is an inborn error of skeletal muscle metabolism, which affects glycogen phosphorylase (myophosphorylase) activity leading to an inability to break down glycogen. Patients with McArdle disease are exercise intolerant, as muscle glycogen-derived glucose is unavailable during exercise. Metabolic adaptation to blocked muscle glycogenolysis occurs at rest in the McArdle mouse model, but only in highly glycolytic muscle. Read More

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http://dx.doi.org/10.1016/j.ymgme.2017.11.006DOI Listing
January 2018
11 Reads