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v-vii
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| Foreword |
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Foreword
London hosted the 4th ‘Steps Forward in Pompe Disease’ European Symposium on 19 and 20 November, 2010. The meeting brought together over 180 health care professionals and scientists from all over the ...
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Stephen Waldek,
Mark Roberts
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S1-S2
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| Faculty Abstracts |
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Outcome Measures in Juvenile/Adult GSDII Cases
Delineation of the natural history of patients with the heterogeneous juvenile/adult form of glycogen storage disease type II (GSDII) is needed to evaluate enzyme replacement therapy (ERT) efficacy. I...
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Corrado Angelini
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S3
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The Search for a Reliable Biomarker and High Risk Testing in Children and Adults
Biomarkers are biological indicators widely used in modern medicine to detect and/or measure specific molecules or patterns related to a disease state or biological process. The search for rapid and c...
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Tiziana Mongini,
Liliana Vercelli
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S4
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Molecular Genetic Analysis: Building Understanding of the Role of Genetics in Pompe Disease Progression and Response
This presentation will provide an overview of the current applications of genetic analysis in assisting in the understanding of the molecular basis for Pompe disease. This includes identifying genetic...
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Robert J. Pomponio
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S5
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Muscle Biopsy as a Diagnostic Tool in Pompe Disease
Today, myopathological, biochemical and genetic characteristics of Pompe disease are well established, and many reports have been published following the first very precisely documented myopatholgical...
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Benedikt Schoser
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S6
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Enzyme Replacement Therapy in Juvenile and Adult Late-Onset Glycogenosis Type II
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 hydrolyses glycogen to glucose. Rece...
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Claudio Semplicini,
Italian Group on GSDII
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S7
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Treatment Guidelines for Pompe Disease: A South European Perspective
Pompe disease is a rare lysosomal disorder of muscle glycogen metabolism due to α-glucosidase (acid maltase) deficiency. The prevalence of the disease is estimated to be 1:40,000. The diagnosis is bas...
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Antonio Toscano,
Olimpia Musumeci
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S8
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Treatment Options for Patients with Advanced Pompe Disease
Clinical trials of Myozyme® have demonstrated efficacy in carefully selected cohorts of patients with Pompe disease. Post-licensing, the drug is now being used in patients who have more advanced disea...
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Robin Lachmann
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S9
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| Delegate Abstracts |
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Dried Blood Spot Testing—The Newcastle Experience Over a Twelve Month Period
Late onset Pompe disease often presents insidiously with slowly progressive skeletal and respiratory muscle weakness. The course of the disease varies between individuals including, age of onset, rate...
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T. Willis,
H. Lochmuller,
K. Bushby,
V. Straub
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S10
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Survival and Prognostic Factors Prior to Enzyme Replacement Therapy in 302 Children and Adults with Pompe Disease
For a long time Pompe disease was an untreatable disorder, but currently enzyme replacement therapy (ERT) is available. To assess if ERT or future treatment options like chaperone or gene therapy impr...
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Deniz Güngör,
Juna M. de Vries,
Wim C.J. Hop,
Arnold J.J. Reuser,
Pieter A. van Doorn,
Ans T. van der Ploeg,
Marloes L.C. Hagemans
et al.
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S11
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High Density of Skeletal Muscle CT Imaging Indicates Excess Calcium Accumulation in Autophagic Vacuoles in Childhood-Onset Pompe Disease
We report two patients with childhood-onset Pompe disease showing striking changes with high-density areas on skeletal muscle CT, not seen in adult- or infantile-onset forms of this disease. Although ...
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Keiko Ishigaki,
Satomi Mitsuhashi,
Ryohei Kuwatsuru,
Terumi Murakami,
Keiko Shishikura,
Haruko Suzuki,
Yoshito Hirayama,
Ikuya Nonaka,
Makiko Osawa
et al.
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S12
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Clinical Presentation of a Patient with a Severe form of Pompe Disease
Pompe disease is a lysosomal storage disorder resulting from a deficiency of lysosomal acid α-glucosidase (GAA) (EC 3.2.1.20). Pompe disease has been classified as infantile onset or late onset; a sin...
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N.I. Sinchuk,
N.V. Olkhovych,
N.A. Pichkur,
T.P. Ivanova,
N.G. Gorovenko
et al.
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S13
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Adult-Onset Pompe Disease Presenting with Severe Fatigue and Selective Involvement of Type 1 Muscle Fibers
Limb-girdle weakness is the most common and prominent presenting sign in adults with Pompe disease. Light-microscopic examination of skeletal muscle from Pompe disease patients usually reveals a vacuo...
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L. van den Berg,
J. de Vries,
A. Reuser,
A. van der Ploeg,
P. van Doorn
et al.
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S14
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Dysphagia and Speech Disorders are Common in Long Term Survivors with Classic Infantile Pompe Disease
Pompe disease is a lysosomal storage disorder caused by deficiency of alpha-glucosidase, and mainly affects skeletal muscle and heart. Patients with the infantile form present shortly after birth and ...
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C.M. van Gelder,
C.I. van Capelle,
H.H.W. de Gier,
J.M.P. van den Hout,
A.T. van der Ploeg
et al.
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S15
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Does Impaired Cellular and Pulmonary Respiration Lead to Decreased Activity Tolerance in a Patient with Late-Onset Pompe Disease? — Application of the Ventilatory Threshold
Fatigue and decreased work capacity in patients with late-onset Pompe disease (LOPD) has been considered a consequence of myopathy from glycogen accumulation and muscle atrophy. We hypothesized that p...
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Aneal Khan,
Barbara Ramage,
Ion Robu
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S16
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Treatment Outcome of Pompe Disease Infants with Negative Cross-Reactive Immunologic Material From Israel and Gaza
Infantile Pompe disease is a fatal autosomal recessive lysosomal storage disease caused by deficiency of acid alpha glucosidase (GAA). Patients are either unable to form the native enzyme [cross react...
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Hanna Mandel,
Deeksha Bali,
Priya S. Kishnani,
Gad Bar-Joseph,
Avraham Lorber,
Asaad Khoury,
Dalia Natan,
Dan J. Eldad,
Marsha Zeigler,
Dan Bercovich,
Horachio Plotkin,
Eli Herskovitz
et al.
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S17
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Study of Muscle Autophagy and Atrophy Markers in Different Phenotypes of Pompe Disease
As reported recently, massive accumulation of autophagic debris appears to contribute greatly to skeletal muscle weakness in Pompe disease.
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Anna Chiara Nascimbeni,
Marina Fanin,
Eva Masiero,
Claudio Semplicini,
Elisabetta Tasca,
Marco Sandri,
Corrado Angelini
et al.
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S18
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Pompe Disease in the United Kingdom Compared with the Rest-of-World: Data from the Pompe Registry
The Pompe Registry is a global observational database collecting anonymous, longitudinal data on patients with Pompe disease. For the purpose of this analysis, patients are categorized into those with...
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Mark E. Roberts,
Simon Jones,
Andrew Millar,
Suyash Prasad,
Pompe Registry Boards of Advisors
et al.
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S19
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Experience with Adult Pompe Disease Treated at Home with Myozyme
Pompe disease is a metabolic myopathy caused by a deficiency of acid alpha glucosidase, an enzyme that degrades lysosomal glycogen. Since 2006, enzyme replacement therapy (ERT) has been available for ...
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J.L. Parajuá-Pozo,
M. García-Lezcano,
M. Vicedo,
M.J. Herrero-Antón
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S20
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Current French Pompe Prevalence Study (French PoPS)
Pompe disease is a progressive, debilitating and often fatal neuromuscular disorder resulting from a deficiency of a lysosomal enzyme, acid alpha-glucosidase (GAA). Overall the incidence of Pompe dise...
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S. Sacconi,
M. Piraud,
A. Echaniz-Laguna,
C. Tranchant,
C. Boutte,
A. Nadaj,
I. Penisson-Besnier,
F. Bouhour,
H. Gervais,
P. Petiot,
V. Manel,
J. Gallard,
E. Salort-Campana,
G. Solé,
M. Pages,
B. Echenne,
I. Fourquet,
A. Lacour,
L. Feasson,
A. Magot,
B. Chabrol,
F. Chapon,
P. Clavelou,
E. Martinez,
E. Baëz,
P. Laforêt,
J. Pouget,
C. Desnuelle
et al.
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S21
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Pregnancy in a Case of Pompe Disease Treated with Recombinant Human Acid Alpha Glucosidase (Myozyme)
Many patients with late onset Pompe disease are treated with recombinant human acid alpha glucosidase. Some of them are young women but we do not have any knowledge about the effects in pregnant women...
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F. Zagnoli,
A. Leblanc,
C. Blanchard,
A. Philippe,
M. Lastennet
et al.
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S22
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Benefit of Recombinant Human Acid Alpha Glucosidase Treatment (Myozyme) in Late Onset Pompe Disease: About Five Cases Treated for 3 Years
Since 2007, patients with late onset Pompe disease have been treated with recombinant human acid alpha glucosidase. We have evaluated the benefits of three years of treatment.
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F. Zagnoli,
A. Leblanc,
C. Blanchard,
A. Philippe,
M. Lastennet
et al.
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S23
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Diagnosis by Electron Microscopy of Late Onset Pompe Disease with Previous Normal or Non Specific Muscle Biopsies by Light Microscopy
The diagnosis of late onset Pompe disease may be delayed for many years following onset of muscle weakness. Muscle biopsy may be normal or non specific by light microscopy.
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Alastair Corbett,
Susan Brammah,
Min-Xia Wang,
Roger Pamphlett
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S24
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Transcriptional Response to GAA Deficiency in Mice and Humans
Pompe disease is caused by deficiency of acid alpha-glucosidase (GAA), a lysosomal enzyme responsible for the degradation of glycogen. The resulting accumulation of lysosomal glycogen leads to vacuola...
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A. Palermo,
R. Palmer,
K. So,
M. Zhang,
B. Richards,
S. Shah,
P. Finn,
S. Oba-Shinjo,
M. Pescatori,
S. Marie,
A. McVie-Wylie,
R. Mattaliano,
R. Pomponio,
S. Madden,
K. Klinger
et al.
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S25
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RegistryNXT!: Enhanced Data Collection and Reporting for the Pompe Registry
For rare diseases such as the lysosomal storage disorders (LSDs), full appreciation of the disease spectrum is possible only through international disease registries. However, these unique patient pop...
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C. Jones,
J.A. Cole,
J. Cutler,
K. Faherty,
S. Prasad,
C. Koepper,
E. James,
A. Siegel,
H. Virkar,
J. Yee
et al.
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S26
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The Heterogeneity of Pompe Disease: Early Data on Genotype From the Pompe Registry
Pompe disease, a rare, autosomal recessive, progressively debilitating disease, presents with considerable clinical variability. Diagnosis is confirmed by identification of absent or deficient acid α-...
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Priya Kishnani,
Barry Byrne,
Laura Case,
Edward Cupler,
Angela Genge,
Ans van der Ploeg,
Suyash Prasad,
Pompe Registry Boards of Advisors
et al.
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S27-S28
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The Pompe Registry: Baseline Data From the First Five Years
The Pompe Registry is the largest repository of worldwide data on Pompe disease and is essential to further understanding of the natural history, clinical symptomatology, and treatment outcomes for th...
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Priya Kishnani,
Barry Byrne,
Laura Case,
Luciano Merlini,
Wolfgang Müller-Felber,
Suyash Prasad,
Ans van der Ploeg,
Pompe Registry Boards of Advisors
et al.
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S29
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Acute Hydrocephalus Revealing Infantile Onset of Pompe Disease
Pompe disease is a rare autosomal recessively inherited lysosomal storage disorder caused by mutations of the gene coding for acid α-glucosidase. Patients with the classic early onset usually come to ...
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D. Dobbelaere,
P. Jissendi,
J.M. Cuisset,
K. Mention,
G. Soto Ares
et al.
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S30
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Inhibition of Glycogen Biosynthesis via mTORC1 Suppression as an Adjunct Therapy for Pompe Disease
Pompe disease, also known as glycogen storage disease (GSD) type II, is caused by deficiency of lysosomal acid α-glucosidase (GAA). The resulting glycogen accumulation causes a spectrum of disease sev...
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K. Ashe,
K.M. Taylor,
Q. Chu,
E. Meyers,
A. Ellis,
V. Jingozyan,
K. Klinger,
P.F. Finn,
C.G.F. Cooper,
W. Chuang,
J. Marshall,
A.J. McVie-Wylie,
J.M. McPherson,
R.J. Mattaliano,
S.H. Cheng,
R.K. Scheule,
R.J. Moreland
et al.
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S31
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Muscle Regeneration and Repair in the Pompe Mouse
Pompe disease is a lysosomal storage disease in which a deficiency of the enzyme lysosomal acid-alpha glucosidase (GAA) results in accumulation of glycogen primarily in skeletal muscle tissue, resulti...
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Alida D'Angona,
Emily LaCasse,
Patrick Finn,
Lucy Phillips,
Robin Ziegler,
Doug Matthews,
Laura Andrews,
Alison McVie-Wylie
et al.
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S32
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Late Onset Pompe Disease Under the Mask of Myoclonus Epilepsy
Practicing physicians are unfamiliar with the manifestations of Pompe disease, in particular with the clinical variability of its late-onset form. To illustrate this, we will describe an unusual case ...
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Vladimir S. Sukhorukov,
Dmitry A. Kharlamov,
Marina Yu. Dorofeeva
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S33
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Results of Prolonged Follow-Up of Late-Onset Pompe Disease Treated with Alglucosidase Alfa (Myozyme®)
Late-onset Pompe disease is characterized by progressive limb-girdle muscle weakness and frequent respiratory insufficiency due to diaphragmatic involvement. Results from a placebo-controlled trial of...
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P. Laforêt,
C. Payan,
K. Laloui,
J.-Y. Hogrel,
C. Wary,
R. Carlier,
N. Pellegrini,
A.-L. Bedat-Millet,
I. Durieu,
A. Furby,
I. Penisson-Besnier,
J. Praline,
D. Orlikowski,
N. Guffon-Fouilhoux,
A. Levy,
B. Eymard
et al.
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S34
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Pompe Disease Diagnosis, Treatment, and Outcomes in Italy: Pompe Disease Registry Data from Italy Compared with the Rest-of-World
Italian guidelines for the diagnosis, management and treatment of Pompe disease highlight the need for more data to inform decision making. The Pompe Registry is a global observational database collec...
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Corrado Angelini,
Suyash Prasad,
Pompe Registry Boards of Advisors
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S35
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Association of Adult-Onset Glycogenosis Type II and a Mutation in the LMNA Gene in Two Patients: Different Clinical and Histological Phenotypes
Adult-onset type II glycogenosis can mimic other neuromuscular disorders.
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Françoise Chapon,
Pascale Richard,
Y. Reznik,
Stéphane Allouche,
François Leroy,
Gisèle Bonne,
Marie-Odile Rolland
et al.
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S36
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Muscular Strength and Function in Late-Onset Pompe Disease: Five-Year Follow-Up of Patients Receiving Enzyme Replacement Therapy
Pompe disease is an inherited metabolic glycogen myopathy leading to progressive generalized muscle weakness. Since 2006, alglucosidase alpha is commercially available in Portugal to treat these patie...
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Paula Garcia,
Rui Castelo,
Mafalda Barbosa,
Henriqueta Araujo,
Vera Ribeiro,
Fátima Martins,
Luisa Diogo
et al.
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S37
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Psychological Follow-Up of Late-Onset Pompe Patients and Parents' Expectations during 4 Years of Enzyme Replacement Therapy
Late-onset Pompe disease is a progressive neuromuscular lysosomal storage disease (LSD) that has a major impact on patients and their families. Since 2006, Portuguese patients can benefit from enzyme ...
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Fidjy Rodrigues,
Catarina Vaz,
Fátima Martins,
Luísa Diogo,
Paula Garcia
et al.
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S38
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Genotype-Phenotype Correlations in Pompe Disease
Pompe disease is an autosomal recessive lysosomal storage disorder caused by a deficiency of the acid α-glucosidase. There is a broad spectrum of phenotypes that is divided in infantile and late onset...
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A. Herzog,
R. Hartung,
E. Mengel,
P. Hermanns,
H. Runz,
S. Gökce,
J. Pohlenz,
M. Beck
et al.
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S39
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Effect of Aerobic and Resistance Exercise Training on Late-Onset Pompe Disease Patients Receiving Enzyme Replacement Therapy
Pompe disease is a rare autosomal recessive disorder characterized by the deficiency of acid α-glycosidase resulting in lysosomal accumulation of glycogen. The late-onset disease form is characterized...
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Gerasimos Terzis,
Georgios K. Papadimas,
Filippos Dimopoulos,
Costas Papadopoulos,
Konstantinos Spengos,
Ioannis Fatouros,
Stavros Kavouras,
Panagiota Manta
et al.
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S40
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