Pompe Disease: From Basic Science to Therapy

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

(2018) Berendine J Ebbink et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Efficient therapy for refractory Pompe disease by mannose 6-phosphate analogue grafting on acid α-glucosidase

(2018) Ilaria Basile et al.   JOURNAL OF CONTROLLED RELEASE

Lysosomal Targeting Enhancement by Conjugation of Glycopeptides Containing Mannose-6-phosphate Glycans Derived from Glyco-engineered Yeast

(2018) Ji-Yeon Kang et al.   Scientific Reports

Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity

(2017) Barbara K. Smith et al.   EXPERIMENTAL NEUROLOGY

Nonintegrating Gene Therapy Vectors

(2017) Takis Athanasopoulos et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant

(2017) Mugdha V. Rairikar et al.   MOLECULAR GENETICS AND METABOLISM

The emerging phenotype of late-onset Pompe disease: A systematic literature review

(2017) Justin Chan et al.   MOLECULAR GENETICS AND METABOLISM

A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice

(2017) Ni-Chung Lee et al.   MOLECULAR NEUROBIOLOGY

Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism

(2017) Dwi U Kemaladewi et al.   NATURE MEDICINE

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum

(2017) David F. Kronn et al.   PEDIATRICS

The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease

(2017) Barbara K. Burton et al.   PEDIATRICS

Newborn Screening for Pompe Disease

(2017) Olaf A. Bodamer et al.   PEDIATRICS

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

(2017) Francesco Puzzo et al.   Science Translational Medicine

Muscle-specific CRISPR/Cas9 dystrophin gene editing ameliorates pathophysiology in a mouse model for Duchenne muscular dystrophy

(2017) Niclas E. Bengtsson et al.   Nature Communications

mTOR as a Key Regulator in Maintaining Skeletal Muscle Mass

(2017) Mee-Sup Yoon   Frontiers in Physiology

Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease

(2017) Manuela Corti et al.   Human Gene Therapy Clinical Development

Low-Dose Liver-Targeted Gene Therapy for Pompe Disease Enhances Therapeutic Efficacy of ERT via Immune Tolerance Induction

(2017) Sang-oh Han et al.   Molecular Therapy-Methods & Clinical Development

Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease

(2017) J. Hordeaux et al.   Acta Neuropathologica Communications

AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease

(2017) Francesca Gatto et al.   Scientific Reports

Immunomodulatory, liver depot gene therapy for Pompe disease

(2017) J.E. Bond et al.   CELLULAR IMMUNOLOGY

CRISPR/Cas9 in Genome Editing and Beyond

(2016) Haifeng Wang et al.   Annual Review of Biochemistry

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

(2016) Daniel J Klionsky et al.   Autophagy

Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study

(2016) C. M. van Gelder et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis

(2016) Benedikt Schoser et al.   JOURNAL OF NEUROLOGY

CRISPR-mediated Genome Editing Restores Dystrophin Expression and Function in mdx Mice

(2016) Li Xu et al.   MOLECULAR THERAPY

In vivo genome editing via CRISPR/Cas9 mediated homology-independent targeted integration

(2016) Keiichiro Suzuki et al.   NATURE

Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced vital capacity) predict ventilator use in late-onset Pompe disease

(2016) Erin M. Johnson et al.   NEUROMUSCULAR DISORDERS

Targeted approaches to induce immune tolerance for Pompe disease therapy

(2016) Phillip A Doerfler et al.   Molecular Therapy-Methods & Clinical Development

Correcting Neuromuscular Deficits With Gene Therapy in Pompe Disease

(2015) Adrian G. Todd et al.   ANNALS OF NEUROLOGY

Defects in calcium homeostasis and mitochondria can be reversed in Pompe disease

(2015) Jeong-A Lim et al.   Autophagy

Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth

(2015) Yin-Hsiu Chien et al.   JOURNAL OF PEDIATRICS

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum

(2015) Olimpia Musumeci et al.   NEUROMUSCULAR DISORDERS

Impaired autophagy affects acid α-glucosidase processing and enzyme replacement therapy efficacy in late-onset glycogen storage disease type II

(2015) Anna Chiara Nascimbeni et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy

(2015) C. Long et al.   SCIENCE

In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy

(2015) C. E. Nelson et al.   SCIENCE

Evaluation of Readministration of a Recombinant Adeno-Associated Virus Vector Expressing Acid Alpha-Glucosidase in Pompe Disease: Preclinical to Clinical Planning

(2015) Manuela Corti et al.   Human Gene Therapy Clinical Development

Disease modeling and lentiviral gene transfer in patient-specific induced pluripotent stem cells from late-onset Pompe disease patient

(2015) Yohei Sato et al.   Molecular Therapy-Methods & Clinical Development

Comparative impact of AAV and enzyme replacement therapy on respiratory and cardiac function in adult Pompe mice

(2015) Darin J Falk et al.   Molecular Therapy-Methods & Clinical Development

Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease

(2014) Dwight D. Koeberl et al.   FASEB JOURNAL

Pharmacological chaperone therapy for lysosomal storage diseases

(2014) Giancarlo Parenti et al.   Future Medicinal Chemistry

Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study

(2014) L. J. Anderson et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

(2014) Carin M. van Gelder et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

(2014) Giancarlo Parenti et al.   MOLECULAR THERAPY

The Nutrient-Responsive Transcription Factor TFE3 Promotes Autophagy, Lysosomal Biogenesis, and Clearance of Cellular Debris

(2014) J. A. Martina et al.   Science Signaling

Regulation of mTORC1 by amino acids

(2014) Liron Bar-Peled et al.   TRENDS IN CELL BIOLOGY

Lysosomal Adaptation: How the Lysosome Responds to External Cues

(2014) C. Settembre et al.   Cold Spring Harbor Perspectives in Biology

Pompe disease: from pathophysiology to therapy and back again

(2014) Jeong-A Lim et al.   Frontiers in Aging Neuroscience

Phase I/II Trial of Diaphragm Delivery of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase (rAAV1-CMV-GAA) Gene Vector in Patients with Pompe Disease

(2014) Barry J. Byrne et al.   Human Gene Therapy Clinical Development

B-cell depletion is protective against anti-AAV capsid immune response: a human subject case study

(2014) M Corti et al.   Molecular Therapy-Methods & Clinical Development

The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients

(2014) Erin J Feeney et al.   Acta Neuropathologica Communications

Timing of diagnosis of patients with pompe disease: Data from the pompe registry

(2013) Priya S. Kishnani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A large-scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment

(2013) Chia-Feng Yang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

(2013) Carmine Spampanato et al.   EMBO Molecular Medicine

Phase I/II Trial of Adeno-Associated Virus–Mediated Alpha-Glucosidase Gene Therapy to the Diaphragm for Chronic Respiratory Failure in Pompe Disease: Initial Safety and Ventilatory Outcomes

(2013) Barbara K. Smith et al.   HUMAN GENE THERAPY

Enzyme replacement therapy and fatigue in adults with Pompe disease

(2013) Deniz Güngör et al.   MOLECULAR GENETICS AND METABOLISM

Intrapleural Administration of AAV9 Improves Neural and Cardiorespiratory Function in Pompe Disease

(2013) Darin J Falk et al.   MOLECULAR THERAPY

Sustained Correction of Motoneuron Histopathology Following Intramuscular Delivery of AAV in Pompe Mice

(2013) Mai K ElMallah et al.   MOLECULAR THERAPY

Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study

(2013) Deniz Güngör et al.   Orphanet Journal of Rare Diseases

Pompe Disease: Early Diagnosis and Early Treatment Make a Difference

(2013) Yin-Hsiu Chien et al.   Pediatrics and Neonatology

Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT

(2013) Suhrad G. Banugaria et al.   PLoS One

The respiratory neuromuscular system in Pompe disease

(2013) David D. Fuller et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

Diagnosis of Pompe Disease

(2013) John Vissing et al.   JAMA Neurology

The genotype-phenotype correlation in Pompe disease

(2012) Marian Kroos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Autophagy in lysosomal storage disorders

(2012) Andrew P. Lieberman et al.   Autophagy

Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease

(2012) Suhrad G. Banugaria et al.   GENETICS IN MEDICINE

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease

(2012) Yoav H. Messinger et al.   GENETICS IN MEDICINE

The emerging phenotype of long-term survivors with infantile Pompe disease

(2012) Sean N. Prater et al.   GENETICS IN MEDICINE

Glycosylation-independent Lysosomal Targeting of Acid α-Glucosidase Enhances Muscle Glycogen Clearance in Pompe Mice

(2012) John A. Maga et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review

(2012) Antonio Toscano et al.   JOURNAL OF NEUROLOGY

The impact of antibodies in late-onset Pompe disease: A case series and literature review

(2012) Trusha T. Patel et al.   MOLECULAR GENETICS AND METABOLISM

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

(2012) Ans T. van der Ploeg et al.   MOLECULAR GENETICS AND METABOLISM

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

(2012) Andreas Herzog et al.   Orphanet Journal of Rare Diseases

From Serendipity to Therapy

(2011) Elizabeth F. Neufeld   Annual Review of Biochemistry

Microautophagy: lesser-known self-eating

(2011) Wen-wen Li et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance

(2011) Diego L. Medina et al.   DEVELOPMENTAL CELL

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

(2011) Suhrad G. Banugaria et al.   GENETICS IN MEDICINE

Pompe disease gene therapy

(2011) B. J. Byrne et al.   HUMAN MOLECULAR GENETICS

Chaperone-mediated autophagy at a glance

(2011) S. Kaushik et al.   JOURNAL OF CELL SCIENCE

Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy

(2011) C. M. van Gelder et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years

(2011) C. Angelini et al.   JOURNAL OF NEUROLOGY

Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening

(2011) Yin-Hsiu Chien et al.   JOURNAL OF PEDIATRICS

Rapid progressive course of later-onset Pompe disease in Chinese patients

(2011) Chih-Chao Yang et al.   MOLECULAR GENETICS AND METABOLISM

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle

(2011) Dwight D. Koeberl et al.   MOLECULAR GENETICS AND METABOLISM

β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease

(2011) Dwight D. Koeberl et al.   MOLECULAR GENETICS AND METABOLISM

Correction of Neurological Disease of Mucopolysaccharidosis IIIB in Adult Mice by rAAV9 Trans-Blood–Brain Barrier Gene Delivery

(2011) Haiyan Fu et al.   MOLECULAR THERAPY

Spinal Delivery of AAV Vector Restores Enzyme Activity and Increases Ventilation in Pompe Mice

(2011) Kai Qiu et al.   MOLECULAR THERAPY

Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology

(2011) Rie S. Tsuburaya et al.   NEUROMUSCULAR DISORDERS

High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation

(2010) Keiko Ishigaki et al.   ACTA NEUROPATHOLOGICA

Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder—murine Pompe disease

(2010) Nina Raben et al.   Autophagy

The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

(2010) Paola de Filippi et al.   GENETICS IN MEDICINE

Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II

(2010) Bruno Bembi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience

(2010) Anupam Chakrapani et al.   JOURNAL OF INHERITED METABOLIC DISEASE

High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa

(2010) Juna M. de Vries et al.   MOLECULAR GENETICS AND METABOLISM

Gel-mediated Delivery of AAV1 Vectors Corrects Ventilatory Function in Pompe Mice With Established Disease

(2010) Cathryn S Mah et al.   MOLECULAR THERAPY

Mechanisms of mitophagy

(2010) Richard J. Youle et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study

(2010) C.I. van Capelle et al.   NEUROMUSCULAR DISORDERS

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

(2010) Ans T. van der Ploeg et al.   NEW ENGLAND JOURNAL OF MEDICINE

When more is less: Excess and deficiency of autophagy coexist in skeletal muscle in Pompe disease

(2009) Nina Raben et al.   Autophagy

Mammalian autophagy: core molecular machinery and signaling regulation

(2009) Zhifen Yang et al.   CURRENT OPINION IN CELL BIOLOGY

Neonatal gene transfer using lentiviral vector for murine Pompe disease: long-term expression and glycogen reduction

(2009) S O Kyosen et al.   GENE THERAPY

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

(2009) Marc Nicolino et al.   GENETICS IN MEDICINE

Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease

(2009) Gaelle Douillard-Guilloux et al.   HUMAN MOLECULAR GENETICS

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial

(2009) S. Strothotte et al.   JOURNAL OF NEUROLOGY

High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

(2009) Shingo Kumamoto et al.   MOLECULAR GENETICS AND METABOLISM

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program

(2009) Paul Labrousse et al.   MOLECULAR GENETICS AND METABOLISM

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

(2009) Priya S. Kishnani et al.   MOLECULAR GENETICS AND METABOLISM

Glycoengineered Acid α-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease

(2009) Yunxiang Zhu et al.   MOLECULAR THERAPY

Immunomodulatory Gene Therapy Prevents Antibody Formation and Lethal Hypersensitivity Reactions in Murine Pompe Disease

(2009) Baodong Sun et al.   MOLECULAR THERAPY

Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

(2009) Priya S Kishnani et al.   PEDIATRIC RESEARCH

Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment

(2009) Y.-H. Chien et al.   PEDIATRICS

Neural deficits contribute to respiratory insufficiency in Pompe disease

(2009) L. R. DeRuisseau et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Gene Network Regulating Lysosomal Biogenesis and Function

(2009) Marco Sardiello et al.   SCIENCE

Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II

(2008) Gaelle Douillard-Guilloux et al.   HUMAN MOLECULAR GENETICS

Correction of glycogenosis type 2 by muscle-specific lentiviral vector

(2008) Emmanuel Richard et al.   IN VITRO CELLULAR & DEVELOPMENTAL BIOLOGY-ANIMAL

Pompe's disease

(2008) Ans T van der Ploeg et al.   LANCET

Clinical features of late-onset Pompe disease: A prospective cohort study

(2008) John H.J. Wokke et al.   MUSCLE & NERVE

Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program

(2008) Y.-H. Chien et al.   PEDIATRICS