1,942 results match your criteria Glycogen Storage Disease Type II Pompe Disease


Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long-term clinical outcome of classic infantile Pompe patients.

J Inherit Metab Dis 2020 Jun 7. Epub 2020 Jun 7.

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

Aim: To compare the long-term outcome of classic infantile Pompe patients treated with 20 mg/kg alglucosidase alfa every other week (eow) to those treated with 40 mg/kg/week, and to study the additional effect of immunomodulation.

Methods: Six patients received 20 mg/kg eow and twelve 40 mg/kg/week. Five patients were CRIM-negative, two in the 20 mg, three in the 40 mg group. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12268DOI Listing

Gene therapy using a novel G6PC-S298C variant enhances the long-term efficacy for treating glycogen storage disease type Ia.

Biochem Biophys Res Commun 2020 Jun 16;527(3):824-830. Epub 2020 May 16.

Section on Cellular Differentiation, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

The current phase I/II clinical trial for human glycogen storage disease type-Ia (GSD-Ia) (NCT03517085) uses a recombinant adeno-associated virus (rAAV) vector expressing a codon-optimized human glucose-6-phosphatase-α (G6Pase-α or G6PC). DNA sequence changes introduced by codon-optimization can negatively impact gene expression. We therefore generated a novel variant in which a single amino acid change, S298C, is introduced into the native human G6PC sequence. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2020.04.124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7309276PMC

Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases.

PLoS One 2020 19;15(5):e0233050. Epub 2020 May 19.

Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.

Introduction: Lysosomal storage diseases (LSDs) are rare inherited metabolic diseases characterized by an abnormal accumulation of various toxic materials in the cells as a result of enzyme deficiencies leading to tissue and organ damage. Among clinical manifestations, cardiac diseases are particularly important in Pompe glycogen storage diseases (PD), in glycosphingolipidosis Fabry disease (FD), and mucopolysaccharidoses (MPS). Here, we evaluated the occurrence of aortopathy in knock out (KO) mouse models of three different LSDs, including PD, FD, and MPS IIIB. Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0233050PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7236983PMC

Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.

Mol Genet Metab Rep 2020 Jun 1;23:100583. Epub 2020 May 1.

Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Service de Neurologie, CHU Raymond Poincaré, AP-HP, 104 bd Raymond Poincaré, 92380 Garches, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2020.100583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200937PMC

Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network.

Rev Neurol (Paris) 2020 Jun 20;176(6):507-515. Epub 2020 Apr 20.

Reference Center of Neuromuscular disorders and ALS, Timone University Hospital, AP-HM, 13385 Marseille, France; Medical Genetics, Aix-Marseille Université, Inserm UMR_1251, 13005 Marseille, France. Electronic address:

In France, the epidemic phase of COVID-19 caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) began in February 2020 and resulted in the implementation of emergency measures and a degradation in the organization of neuromuscular reference centers. In this special context, the French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS) has established guidance in an attempt to homogenize the management of neuromuscular (NM) patients within the French territory. Hospitalization should be reserved for emergencies, the conduct of treatments that cannot be postponed, check-ups for which the diagnostic delay may result in a loss of survival chance, and cardiorespiratory assessments for which the delay could be detrimental to the patient. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurol.2020.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7167585PMC

Hepatocellular carcinoma with glycogen storage disease type 1a.

Pediatr Int 2020 Jun 24;62(6):744-745. Epub 2020 Apr 24.

Division of Pediatric Surgery, Department of Surgery, Kobe University Graduate School of Medicine, Kobe, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ped.14202DOI Listing

Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement.

Orphanet J Rare Dis 2020 Apr 19;15(1):99. Epub 2020 Apr 19.

Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", Section of Pediatrics, University of Salerno, Via Salvador Allende, 43 84081, Baronissi (Salerno), 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). Glucose 6-phosphate (G6P) availability has been shown to modulate 11β-hydroxysteroid dehydrogenase type 1 (11βHSD1), an ER-bound enzyme catalyzing the local conversion of inactive cortisone into active cortisol. Adrenal cortex assessment has never been performed in GSDI. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-020-01377-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7169016PMC

Moss-Derived Human Recombinant GAA Provides an Optimized Enzyme Uptake in Differentiated Human Muscle Cells of Pompe Disease.

Int J Mol Sci 2020 Apr 10;21(7). Epub 2020 Apr 10.

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University Munich, 80336 Munich, Germany.

Pompe disease is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of lysosomal acid alpha-glucosidase (GAA). The result of the GAA deficiency is a ubiquitous lysosomal and non-lysosomal accumulation of glycogen. The most affected tissues are heart, skeletal muscle, liver, and the nervous system. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms21072642DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7177967PMC

Training, detraining, and retraining: Two 12-week respiratory muscle training regimens in a child with infantile-onset Pompe disease.

J Pediatr Rehabil Med 2020 ;13(1):71-80

Department of Head and Neck Surgery and Communication Sciences, Duke University, Durham, NC, USA.

Background: Respiratory muscle weakness is a primary cause of morbidity and mortality in patients with Pompe disease. We previously described the effects of our 12-week respiratory muscle training (RMT) regimen in 8 adults with late-onset Pompe disease [1] and 2 children with infantile-onset Pompe disease [2].

Case Report: Here we describe repeat enrollment by one of the pediatric participants who completed a second 12-week RMT regimen after 7 months of detraining. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/PRM-190601DOI Listing
January 2020

compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease.

Aging (Albany NY) 2020 Mar 3;12(5):4268-4282. Epub 2020 Mar 3.

Department of Neurology, Liaocheng People's Hospital and Liaocheng Clinical School of Shandong First Medical University, Liaocheng 252000, Shandong, P.R. China.

Clinical manifestations of the late-onset adult Pompe disease (glycogen storage disease type II) are heterogeneous. To identify genetic defects of a special patient population with cerebrovascular involvement as the main symptom, we performed whole-genome sequencing (WGS) analysis on a consanguineous Chinese family of total eight members including two Pompe siblings both had cerebral infarction. Two novel compound heterozygous variants were found in GAA gene: c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.18632/aging.102879DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093195PMC

Novel Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.

Mol Ther Methods Clin Dev 2020 Jun 13;17:337-348. Epub 2020 Jan 13.

Department of Pediatrics, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands.

Pompe disease is a metabolic disorder caused by a deficiency of the glycogen-hydrolyzing lysosomal enzyme acid α-glucosidase (GAA), which leads to progressive muscle wasting. This autosomal-recessive disorder is the result of disease-associated variants located in the gene. In the present study, we performed extended molecular diagnostic analysis to identify novel disease-associated variants in six suspected Pompe patients from four different families for which conventional diagnostic assays were insufficient. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.omtm.2019.12.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7013133PMC

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.

J Inherit Metab Dis 2020 Feb 16. Epub 2020 Feb 16.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

A potential role of dietary lipids in the management of hepatic glycogen storage diseases (GSDs) has been proposed, but no consensus on management guidelines exists. The aim of this study was to describe current experiences with dietary lipid manipulations in hepatic GSD patients. An international study was set up to identify published and unpublished cases describing hepatic GSD patients with a dietary lipid manipulation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12224DOI Listing
February 2020

Infantile-onset pompe disease: a tale of two cases.

Cardiol Young 2020 Feb 27;30(2):275-277. Epub 2020 Jan 27.

Division of Pediatric Cardiology, The Children's Hospital of Michigan, Detroit, MI, USA.

Pompe disease is a type-II glycogen storage disease, and clinical manifestations include hypertrophic cardiomyopathy and generalised muscular hypotonia. Enzyme replacement therapy has proven to be effective in reversing the ventricular hypertrophy. The outcomes are variable depending on time to diagnosis and severity of the cardiac disease. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S1047951119003160DOI Listing
February 2020
0.857 Impact Factor

Exercise therapy for muscle and lower motor neuron diseases.

Acta Myol 2019 Dec 1;38(4):215-232. Epub 2019 Dec 1.

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.

Muscle and lower motor neuron diseases share a common denominator of perturbed muscle function, most often related to wasting and weakness of muscles. This leads to a number of challenges, such as restricted mobility and respiratory difficulties. Currently there is no cure for these diseases. Read More

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6955630PMC
December 2019

The Novel Compound Heterozygous Mutations of GAA Gene in Mainland Chinese Patient with Classic Infantile-Onset Pompe Disease.

Int Heart J 2020 Jan 26;61(1):178-182. Epub 2019 Dec 26.

Central Laboratory, Affiliated Hospital of Jining Medical University.

Pompe disease (PD) is a rare and fatal neuromuscular disease, which is an autosomal recessive disorder. This is the first study to report a case of the compound heterozygous c.1822C>T and c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1536/ihj.19-241DOI Listing
January 2020

Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach.

Neurol Sci 2020 Apr 7;41(4):859-868. Epub 2019 Dec 7.

Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

Aerobic exercise, training to sustain motor ability, and respiratory rehabilitation may improve general functioning and quality of life (QoL) in neuromuscular disorders. Patients with late-onset Pompe disease (LOPD) typically show progressive muscle weakness, respiratory dysfunction and minor cardiac involvement. Characteristics and modalities of motor and respiratory rehabilitation in LOPD are not well defined and specific guidelines are lacking. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-019-04178-7DOI Listing

Advancements in AAV-mediated Gene Therapy for Pompe Disease.

J Neuromuscul Dis 2020 ;7(1):15-31

Department of Pediatrics and Powell Gene Therapy Center, University of Florida, Gainesville, Floria, USA.

Pompe disease (glycogen storage disease type II) is caused by mutations in acid α-glucosidase (GAA) resulting in lysosomal pathology and impairment of the muscular and cardio-pulmonary systems. Enzyme replacement therapy (ERT), the only approved therapy for Pompe disease, improves muscle function by reducing glycogen accumulation but this approach entails several limitations including a short drug half-life and an antibody response that results in reduced efficacy. To address these limitations, new treatments such as gene therapy are under development to increase the intrinsic ability of the affected cells to produce GAA. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JND-190426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7029369PMC
January 2020

Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene.

Stem Cell Res 2019 12 25;41:101621. Epub 2019 Oct 25.

Xi'an Medicine University, Xi'an 710021, China.

Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of a five months-old boy with glycogen storage disease type II(GSD II, also known as Pompe disease, PD) carries compound mutations R608X E888X in GAA gene. PBMCs were reprogrammed using non-integrative Sendai viral vectors containing reprogramming factors OCT4, SOX2, KLF4 and C-MYC. iPSCs were shown to express pluripotent markers, have trilineage differentiation potential, carry GAA-R608X and GAA-E888X compound mutations, have a normal karyotype. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.scr.2019.101621DOI Listing
December 2019

Molecular Approaches for the Treatment of Pompe Disease.

Mol Neurobiol 2020 Feb 12;57(2):1259-1280. Epub 2019 Nov 12.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.

Glycogen storage disease type II (GSDII, Pompe disease) is a rare metabolic disorder caused by a deficiency of acid alpha-glucosidase (GAA), an enzyme localized within lysosomes that is solely responsible for glycogen degradation in this compartment. The manifestations of GSDII are heterogeneous but are classified as early or late onset. The natural course of early-onset Pompe disease (EOPD) is severe and rapidly fatal if left untreated. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12035-019-01820-5DOI Listing
February 2020

Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.

Mol Genet Metab 2020 02 17;129(2):73-79. Epub 2019 Oct 17.

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, United States of America; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC, United States of America. Electronic address:

Pompe disease is caused by the deficiency of lysosomal acid α-glucosidase (GAA) leading to progressive myopathy. Enzyme replacement therapy (ERT) with recombinant human (rh) GAA has limitations, including inefficient uptake of rhGAA in skeletal muscle linked to low cation-independent mannose-6-phosphate receptor (CI-MPR) expression.

Purpose: To test the hypothesis that antihypertensive agents causing muscle hypertrophy by increasing insulin-like growth factor 1 expression can increase CI-MPR-mediated uptake of recombinant enzyme with therapeutic effects in skeletal muscle. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2019.10.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7002209PMC
February 2020
1 Read

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease.

Neurology 2019 11 16;93(19):e1756-e1767. Epub 2019 Oct 16.

From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.

Objective: To determine the effects of 10 years of enzyme replacement therapy (ERT) in adult patients with Pompe disease, focusing on individual variability in treatment response.

Methods: In this prospective, multicenter cohort study, we studied 30 patients from the Netherlands and France who had started ERT during the only randomized placebo-controlled clinical trial with ERT in late-onset Pompe disease (NCT00158600) or its extension (NCT00455195) in 2005 to 2008. Main outcomes were walking ability (6-minute walk test [6MWT]), muscle strength (manual muscle testing using Medical Research Council [MRC] grading), and pulmonary function (forced vital capacity [FVC] in the upright and supine positions), assessed at 3- to 6-month intervals before and after the start of ERT. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000008441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6946483PMC
November 2019
1 Read

Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.

J Pediatr 2020 01 9;216:44-50.e5. Epub 2019 Oct 9.

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

Objectives: To evaluate the clinical and molecular spectrum, and factors affecting clinical outcome of patients in India diagnosed with infantile-onset Pompe disease (IOPD).

Study Design: In this multicenter, cross-sectional study, we evaluated the records of 77 patients with IOPD to analyze their clinical course, outcomes, and factors influencing the outcomes.

Results: Of the 77 patients with IOPD, phenotype data were available in 59; 46 (78%) had the classic phenotype. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2019.08.058DOI Listing
January 2020
2 Reads
3.790 Impact Factor

An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.

Neuropathol Appl Neurobiol 2020 Jun 24;46(4):359-374. Epub 2019 Oct 24.

Institute of Neuropathology, Justus Liebig University, Giessen, Germany.

Aims: Pompe disease is caused by pathogenic mutations in the alpha 1,4-glucosidase (GAA) gene and in patients with late onset Pome disease (LOPD), genotype-phenotype correlations are unpredictable. Skeletal muscle pathology includes glycogen accumulation and altered autophagy of various degrees. A correlation of the muscle morphology with clinical features and the genetic background in GAA may contribute to the understanding of the phenotypic variability. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/nan.12580DOI Listing
June 2020
9 Reads

Hepatic Glycogenosis In Children: Spectrum Of Presentation And Diagnostic Modalities.

J Ayub Med Coll Abbottabad 2019 Jul-Sep;31(3):368-371

Department of Paediatric Gastroenterology & Hepatology, The Children's Hospital & The Institute of Child Health Lahore, Pakistan.

Background: Objectives of the study were to determine the clinical spectrum of presentation and various modalities helpful in the diagnosis of liver glycogenosis short of genetic analysis.

Methods: All patients under 18 years of age presenting to Paediatric Gastroenterology unit of Children's Hospital, Lahore with suspicion of hepatic glycogen storage disease (GSD) were enrolled over a period of 18 months. Demographic profile and various factors under observation were recorded. Read More

View Article

Download full-text PDF

Source
January 2020
4 Reads

Using human Pompe disease-induced pluripotent stem cell-derived neural cells to identify compounds with therapeutic potential.

Hum Mol Genet 2019 12;28(23):3880-3894

Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei, 10051, Taiwan.

Pompe disease (OMIM # 232300) is a glycogen storage disease caused by autosomal recessive mutations of the gene encoding alpha-1,4-glucosidase (GAA; EC 3.2.1. Read More

View Article

Download full-text PDF

Source
https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg
Publisher Site
http://dx.doi.org/10.1093/hmg/ddz218DOI Listing
December 2019
1 Read

Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series.

Ital J Pediatr 2019 Aug 22;45(1):106. Epub 2019 Aug 22.

Department of PICU, The First Affiliated Hospital, Sun Yat-Sen University, 58 Zhongshan Second Road, Guangzhou, Guangdong, 510080, People's Republic of China.

Background: Glycogen storage disease type II (GSD II) is caused by acid alpha-glucosidase (GAA) deficiency. Both infantile-onset and juvenile-onset GSD II lead to proximal muscle weakness and respiratory insufficiency and require mechanical ventilation. However, GSD II is also independently associated with delayed weaning from mechanical ventilation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13052-019-0692-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6704633PMC
August 2019
3 Reads

Systematic review of oral and craniofacial findings in patients with Fabry disease or Pompe disease.

Br J Oral Maxillofac Surg 2019 11 9;57(9):831-838. Epub 2019 Aug 9.

Department of Oral Surgery and Dental Emergency Care, Faculty of Health, Witten/Herdecke University, Alfred-Herrhausen-Str. 50, 58455 Witten, Germany.

Fabry disease and Pompe disease are rare lysosomal storage disorders that belong to a heterogeneous group of more than 200 distinct inborn metabolic diseases. Mutations followed by loss of function of enzymes or transporters that are localised in the acidic environment of the lysosome may result in degradation of many substrates, such as glycosaminoglycans, glycosphingolipids, glycogen, cholesterol, oligosaccharides, glycoproteins, and peptides, or the excretion of the products degraded by the lysosome. Our aim was to identify the oral signs and symptoms of Fabry disease and Pompe disease from a systematic review made using MEDLINE/PubMed, and a hand search for relevant articles, following the PRISMA guidelines. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bjoms.2019.07.018DOI Listing
November 2019
2 Reads

Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.

Mol Genet Metab 2019 Sep - Oct;128(1-2):129-136. Epub 2019 Jul 23.

Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro de Investigación en Red en Enfermedades Raras (CIBERER), Spain. Electronic address:

Late onset Pompe disease (LOPD) is a genetic disorder characterized by slowly progressive skeletal and respiratory muscle weakness. Symptomatic patients are treated with enzyme replacement therapy (ERT) with alglucosidase alpha (rhGAA). Although most of ERT treated patients develop antibodies against rhGAA, their influence on clinical progression is not completely known. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2019.07.013DOI Listing
April 2020
5 Reads

Identification of serum microRNAs as potential biomarkers in Pompe disease.

Ann Clin Transl Neurol 2019 07 12;6(7):1214-1224. Epub 2019 Jun 12.

Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

Objective: To analyze the microRNA profile in serum of patients with Adult Onset Pompe disease (AOPD).

Methods: We analyzed the expression of 185 microRNAs in serum of 15 AOPD patients and five controls using microRNA PCR Panels. The expression levels of microRNAs that were deregulated were further studied in 35 AOPD patients and 10 controls using Real-Time PCR. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/acn3.50800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6649638PMC
July 2019
2 Reads

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Hum Mutat 2019 11 7;40(11):2146-2164. Epub 2019 Aug 7.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.

Identification of variants in the acid α-glucosidase (GAA) gene in Pompe disease provides valuable insights and systematic overviews are needed. We report on the number, nature, frequency, and geographic distribution of GAA sequence variants listed in the Pompe Registry, a long-term, observational program and the largest global repository of Pompe disease data. Variant information was reviewed and compared with publicly available GAA databases/resources. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23878DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852536PMC
November 2019
3 Reads

A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia.

Thyroid 2019 08;29(8):1158-1167

1Cardiovascular and Metabolic Disorders Program, Duke-NUS Medical School, Singapore, Singapore.

Glycogen storage disease type Ia (GSD Ia), also known as von Gierke disease, is the most common glycogen storage disorder. It is caused by the deficiency of glucose-6-phosphatase, the enzyme that catalyzes the final step of gluconeogenesis and glycogenolysis. The accumulation of glucose-6-phosphate leads to increased glycogen and triglyceride levels in the liver. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/thy.2019.0007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6707038PMC
August 2019
6 Reads

Identification of patients with Pompé disease using routine pathology results: PATHFINDER (creatine kinase) study.

J Clin Pathol 2019 Dec 15;72(12):805-809. Epub 2019 Jul 15.

Metabolic Medicine/Chemical Pathology, Guy's & St Thomas' Hospitals, London, UK

Aims: Adult-onset inherited errors of metabolism can be difficult to diagnose. Some cases of potentially treatable myopathy are caused by autosomal recessive acid α-1,4 glucosidase (acid maltase) deficiency (Pompé disease). This study investigated whether screening of asymptomatic patients with elevated creatine kinase (CK) could improve detection of Pompé disease. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jclinpath-2019-205711DOI Listing
December 2019
3 Reads

Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): A protocol for a sham-controlled clinical trial.

Mol Genet Metab 2019 08 8;127(4):346-354. Epub 2019 May 8.

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

Introduction: Morbidity and mortality in adults with late-onset Pompe disease (LOPD) results primarily from persistent progressive respiratory muscle weakness despite treatment with enzyme replacement therapy (ERT). To address this need, we have developed a 12-week respiratory muscle training (RMT) program that provides calibrated, individualized, and progressive pressure-threshold resistance against inspiration and expiration. Our previous results suggest that our RMT regimen is safe, well-tolerated, and results in large increases in respiratory muscle strength. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2019.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6717661PMC
August 2019
4 Reads

Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology.

Hum Mutat 2019 11 29;40(11):2121-2130. Epub 2019 Jul 29.

Molecular Pathology, International Institute for Genetic Engineering and Biotechnology, Trieste, Italy.

Glycogen storage disease II (GSDII), also called Pompe disease, is an autosomal recessive inherited disease caused by a defect in glycogen metabolism due to the deficiency of the enzyme acid alpha-glucosidase (GAA) responsible for its degradation. So far, more than 500 sequence variants of the GAA gene have been reported but their possible involvement on the pre-messenger RNA splicing mechanism has not been extensively studied. In this work, we have investigated, by an in vitro functional assay, all putative splicing variants within GAA exon 2 and flanking introns. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23867DOI Listing
November 2019
4 Reads

Gene Therapy for Pompe Disease: The Time is now.

Hum Gene Ther 2019 10 9;30(10):1245-1262. Epub 2019 Sep 9.

Genethon, Evry, France.

Pompe disease (PD) is caused by the deficiency of the lysosomal enzyme acid α-glucosidase (GAA), resulting in systemic pathological glycogen accumulation. PD can present with cardiac, skeletal muscle, and central nervous system manifestations, as a continuum of phenotypes among two main forms: classical infantile-onset PD (IOPD) and late-onset PD (LOPD). IOPD is caused by severe GAA deficiency and presents at birth with cardiac hypertrophy, muscle hypotonia, and severe respiratory impairment, leading to premature death, if not treated. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/hum.2019.109DOI Listing
October 2019

Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature.

Neurol Int 2019 Jun 18;11(2):7983. Epub 2019 Jun 18.

Department of Public Health, 'Federico II' University of Naples, Italy.

Pompe disease (PD) is a rare neuromuscular disorder caused by a deficiency of the enzyme acid alpha-glucosidase. There are three forms of PD depending on the age at onset and clinical severity. PD causes involvement of different organ systems, such as the heart, musculoskeletal system, and respiratory system. Read More

View Article

Download full-text PDF

Source
https://www.pagepress.org/journals/index.php/ni/article/view
Publisher Site
http://dx.doi.org/10.4081/ni.2019.7983DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6589625PMC
June 2019
3 Reads

Bright tongue sign in patients with late-onset Pompe disease.

J Neurol 2019 Oct 29;266(10):2518-2523. Epub 2019 Jun 29.

Department of Neurology, Oregon Health and Science University, 3181 SW Sam Jackson Park Rd., Portland, OR, 97239, USA.

Background: Late-onset Pompe disease (LOPD) is an often misdiagnosed inherited myopathy for which treatment exists. We noticed a bright tongue sign on brain MRIs of two patients who were admitted to the ICU for respiratory failure of unclear origin, and who were eventually diagnosed with LOPD. This led us to systematically review brain MRIs of patients with LOPD and various other neuromuscular disorders (NMD). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-019-09455-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6765469PMC
October 2019
3 Reads

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.

Hum Mutat 2019 11 29;40(11):1954-1967. Epub 2019 Jul 29.

Department of Pediatrics, Erasmus University Medical Center, Rotterdam, The Netherlands.

Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease-associated variants in the acid alpha-glucosidase (GAA) gene. The current Pompe mutation database provides a severity rating of GAA variants based on in silico predictions and expression studies. Here, we extended the database with clinical information of reported phenotypes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23854DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851659PMC
November 2019
4 Reads

Gene-specific features enhance interpretation of mutational impact on acid α-glucosidase enzyme activity.

Hum Mutat 2019 09 7;40(9):1507-1518. Epub 2019 Aug 7.

Department of Plant and Microbial Biology, University of California, Berkeley, California.

We present a computational model for predicting mutational impact on enzymatic activity of human acid α-glucosidase (GAA), an enzyme associated with Pompe disease. Using a model that combines features specific to GAA with other general evolutionary and physiochemical features, we made blind predictions of enzymatic activity relative to wildtype human GAA for >300 GAA mutants, as part of the Critical Assessment of Genome Interpretation 5 GAA challenge. We found that gene-specific features can improve the performance of existing impact prediction tools that mostly rely on general features for pathogenicity prediction. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23846DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7329270PMC
September 2019
6 Reads

Gene therapy for glycogen storage diseases.

Hum Mol Genet 2019 10;28(R1):R31-R41

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.

The focus of this review is the development of gene therapy for glycogen storage diseases (GSDs). GSD results from the deficiency of specific enzymes involved in the storage and retrieval of glucose in the body. Broadly, GSDs can be divided into types that affect liver or muscle or both tissues. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddz133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796997PMC
October 2019
7 Reads

Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.

Mol Genet Metab Rep 2019 Sep 10;20:100475. Epub 2019 May 10.

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

Enzyme replacement therapy (ERT) with rhGAA has improved clinical outcomes in infantile Pompe disease (IPD). A subset of CRIM-positive IPD patients develop high and sustained antibody titers (HSAT; ≥51,200) and/or sustained intermediate titer (SIT; ≥12,800 and <51,200), similar to CRIM-negative patients. To date there has been no systematic study to analyze the extent of IgG antibody response in CRIM-positive IPD. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S22144269193007
Publisher Site
http://dx.doi.org/10.1016/j.ymgmr.2019.100475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6518314PMC
September 2019
9 Reads

Forced vital capacity and cross-domain late-onset Pompe disease outcomes: an individual patient-level data meta-analysis.

J Neurol 2019 Sep 11;266(9):2312-2321. Epub 2019 Jun 11.

Sanofi Genzyme, Cambridge, MA, USA.

Background: Late-onset Pompe disease (LOPD) is a rare, metabolic disease primarily affecting the musculoskeletal and respiratory systems. Forced vital capacity (FVC) is commonly used to measure pulmonary function; however, associations between FVC and other LOPD outcomes remain unclear.

Methods: A systematic literature review was conducted on November 2015, updated September 2016 and supplemented with clinical trial data from the sponsor. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-019-09401-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687674PMC
September 2019
13 Reads
3.377 Impact Factor

White matter lesions in treated late onset Pompe disease are not different to matched controls.

Mol Genet Metab 2019 06 14;127(2):128-131. Epub 2019 May 14.

Department of Neurology, University hospital, Ernst-Grube-Str. 40, 06120 Halle (Saale), Germany. Electronic address:

Introduction: Genetic deficiency of α-1,4-glucosidase leads to multi-systemic glycogen storage and causes muscular disorder known as classic infantile Pompe disease (CIOPD) and late onset Pompe disease (LOPD). Treatment with recombinant human alglucosidase alfa is available as enzyme replacement therapy (ERT). Recently progressive white matter lesions (WML) have been observed as a new phenotype in CIOPD patients on treatment with ERT. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2019.05.007DOI Listing
June 2019
4 Reads

Micropatterned substrates with physiological stiffness promote cell maturation and Pompe disease phenotype in human induced pluripotent stem cell-derived skeletal myocytes.

Biotechnol Bioeng 2019 09 20;116(9):2377-2392. Epub 2019 Jun 20.

Department of Comparative Biosciences, University of Wisconsin, Madison, Wisconsin.

Recent advances in bioengineering have enabled cell culture systems that more closely mimic the native cellular environment. Here, we demonstrated that human induced pluripotent stem cell (iPSC)-derived myogenic progenitors formed highly-aligned myotubes and contracted when seeded on two-dimensional micropatterned platforms. The differentiated cells showed clear nuclear alignment and formed elongated myotubes dependent on the width of the micropatterned lanes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bit.27075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6699746PMC
September 2019
6 Reads

Screening for late-onset Pompe disease in Poland.

Acta Neurol Scand 2019 Oct 18;140(4):239-243. Epub 2019 Jun 18.

Department of Neurology, Medical University of Warsaw, Warsaw, Poland.

Objectives: We aimed to screen for late-onset Pompe disease using the dried blood spot (DBS) test in a cohort of patients with limb-girdle muscle weakness or persistent hyperCKemia.

Materials And Methods: Patients with limb-girdle muscle weakness, persistently elevated CK, rigid spine syndrome, dyspnoea, myalgia or sibling of the patient diagnosed with LOPD were included in the study. Acid α-glucosidase (GAA) activity was measured on DBS by tandem mass spectrometry and followed by genetic testing when required. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ane.13133DOI Listing
October 2019
8 Reads

Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes-the Pompe disease burden scale.

J Neurol 2019 Aug 18;266(8):2010-2017. Epub 2019 May 18.

Department of Radiation Oncology, Cantonal Hospital, 9007, St. Gallen, Switzerland.

Pompe disease is a rare autosomal-recessive disorder characterised by limb-girdle myopathy and respiratory weakness in the late-onset form (LOPD). Various mutations in the acid alpha-glucosidase gene lead to toxic lysosomal and extra-lysosomal glycogen accumulation in all organs due to ineffective glycogen clearance by the encoded enzyme. Only one randomized trial demonstrated beneficial effects of respiratory function and meters walked in the 6-min walking test with enzyme replacement therapy (ERT). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-019-09373-2DOI Listing
August 2019
4 Reads

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.

Genet Med 2019 11 14;21(11):2543-2551. Epub 2019 May 14.

Seattle Children's Hospital/University of Washington, Seattle, WA, USA.

Purpose: To characterize clinical characteristics and genotypes of patients in the ADVANCE study of 4000 L-scale alglucosidase alfa (NCT01526785), the largest prospective United States Pompe disease cohort to date.

Methods: Patients aged ≥1 year with confirmed Pompe disease previously receiving 160 L alglucosidase alfa were eligible. GAA genotypes were determined before/at enrollment. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0527-9DOI Listing
November 2019
19 Reads
7.329 Impact Factor

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.

J Hum Genet 2019 Aug 10;64(8):741-755. Epub 2019 May 10.

Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.

A newborn screening program for Pompe disease using dried blood spots (DBSs) was initiated in Japan. Here, we summarized this screening program and described the results of the GAA gene analysis. From April 2013 to November 2016, 103,204 newborns were screened; 71 had low acid alpha-glucosidase (AαGlu) activity. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-019-0603-7DOI Listing
August 2019
3 Reads

A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene.

Stem Cell Res 2019 05 11;37:101435. Epub 2019 Apr 11.

National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address:

Pompe disease is an autosomal inherent genetic disease caused by mutations in the GAA gene that encodes acid alpha-glucosidase. The disease affects patients in heart, skeletal muscles, liver, and central nervous system. A human induced pluripotent stem cell (iPSC) line was generated from the skin dermal fibroblasts of a Pompe patient with homozygosity for a c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.scr.2019.101435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658133PMC
May 2019
4 Reads