Developments in the treatment of Fabry disease

Improved Efficacy in a Fabry Disease Model Using a Systemic mRNA Liver Depot System as Compared to Enzyme Replacement Therapy

(2019) Frank DeRosa et al.   MOLECULAR THERAPY

Liver-targeted AAV gene therapy vectors produced by a clinical scale manufacturing process result in high, continuous therapeutic levels of enzyme activity and effective substrate reduction in mouse model of Fabry disease

(2019) Marshall W. Huston et al.   MOLECULAR GENETICS AND METABOLISM

Pharmacokinetics, pharmacodynamics, and safety of moss-aGalactosidase A in patients with Fabry disease

(2019) Julia B. Hennermann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates

(2019) Xuling Zhu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy

(2019) Malte Lenders et al.   JOURNAL OF MEDICAL GENETICS

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial

(2019) Uma Ramaswami et al.   MOLECULAR GENETICS AND METABOLISM

Oral Chaperone Therapy Migalastat for the Treatment of Fabry Disease: Potentials and Pitfalls of Real‐World Data

(2019) Simon Körver et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Gene therapy for hemophilia: Progress to date and challenges moving forward

(2019) Kandace L. Gollomp et al.   TRANSFUSION AND APHERESIS SCIENCE

Gadolinium-Based Contrast Agents in Kidney Disease: Comprehensive Review and Clinical Practice Guideline Issued by the Canadian Association of Radiologists

(2018) Nicola Schieda et al.   CANADIAN ASSOCIATION OF RADIOLOGISTS JOURNAL-JOURNAL DE L ASSOCIATION CANADIENNE DES RADIOLOGISTES

Comparison of Cardiac Magnetic Resonance Imaging and Echocardiography in Assessment of Left Ventricular Hypertrophy in Fabry Disease

(2018) Hassan Hazari et al.   CANADIAN JOURNAL OF CARDIOLOGY

Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study

(2018) Maarten Arends et al.   JOURNAL OF MEDICAL GENETICS

Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease

(2018) Albina Nowak et al.   MOLECULAR GENETICS AND METABOLISM

The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease – A systematic literature review by a European panel of experts

(2018) Marco Spada et al.   MOLECULAR GENETICS AND METABOLISM

Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial

(2018) Raphael Schiffmann et al.   Orphanet Journal of Rare Diseases

Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation

(2018) L. Lavalle et al.   PLoS One

Proposed Stages of Myocardial Phenotype Development in Fabry Disease

(2018) Sabrina Nordin et al.   JACC-Cardiovascular Imaging

The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease – A systematic literature review by a European panel of experts

(2018) Dominique P. Germain et al.   MOLECULAR GENETICS AND METABOLISM

Development and clinical consequences of white matter lesions in Fabry disease: a systematic review

(2018) Simon Körver et al.   MOLECULAR GENETICS AND METABOLISM

Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year

(2018) Jonas Müntze et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Dose-Dependent Effect of Enzyme Replacement Therapy on Neutralizing Antidrug Antibody Titers and Clinical Outcome in Patients with Fabry Disease

(2018) Malte Lenders et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment

(2018) S.J. van der Veen et al.   MOLECULAR GENETICS AND METABOLISM

Unraveling the Complex Story of Immune Responses to AAV Vectors Trial After Trial

(2017) Céline Vandamme et al.   HUMAN GENE THERAPY

Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease

(2017) M. Lenders et al.   JOURNAL OF INTERNAL MEDICINE

Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment

(2017) Michael Mauer et al.   JOURNAL OF MEDICAL GENETICS

Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease

(2017) Maarten Arends et al.   MOLECULAR GENETICS AND METABOLISM

Lucerastat, an iminosugar with potential as substrate reduction therapy for glycolipid storage disorders: safety, tolerability, and pharmacokinetics in healthy subjects

(2017) N. Guérard et al.   Orphanet Journal of Rare Diseases

Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies

(2017) Regina El Dib et al.   PLoS One

Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors

(2017) Maarten Arends et al.   PLoS One

Pain management strategies for neuropathic pain in Fabry disease - a systematic review

(2016) Y. Schuller et al.   BMC Neurology

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

(2016) Elfrida R. Benjamin et al.   GENETICS IN MEDICINE

Anti-PEG antibodies in the clinic: Current issues and beyond PEGylation

(2016) Peng Zhang et al.   JOURNAL OF CONTROLLED RELEASE

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

(2016) Derralynn A Hughes et al.   JOURNAL OF MEDICAL GENETICS

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

(2016) Maarten Arends et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

(2016) Dominique P. Germain et al.   NEW ENGLAND JOURNAL OF MEDICINE

Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease

(2016) Malte Lenders et al.   Orphanet Journal of Rare Diseases

Intrathecal delivery of frataxin mRNA encapsulated in lipid nanoparticles to dorsal root ganglia as a potential therapeutic for Friedreich’s ataxia

(2016) Joseph F. Nabhan et al.   Scientific Reports

Immunogenicity to Biotherapeutics – The Role of Anti-drug Immune Complexes

(2016) Murli Krishna et al.   Frontiers in Immunology

The role of antibodies in enzyme treatments and therapeutic strategies

(2015) Brian W. Bigger et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Innovative Treatments for Lysosomal Diseases

(2015) Timothy M. Cox   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Mannose receptor-mediated delivery of moss-made α-galactosidase A efficiently corrects enzyme deficiency in Fabry mice

(2015) Jin-Song Shen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

(2015) Dominique P Germain et al.   JOURNAL OF MEDICAL GENETICS

Serum-Mediated Inhibition of Enzyme Replacement Therapy in Fabry Disease

(2015) M. Lenders et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Characterization of a chemically modified plant cell culture expressed human α-Galactosidase-A enzyme for treatment of Fabry disease

(2015) Tali Kizhner et al.   MOLECULAR GENETICS AND METABOLISM

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(2015) Karen Ashe et al.   MOLECULAR MEDICINE

Depletion of globosides and isoglobosides fully reverts the morphologic phenotype of Fabry disease.

(2014) Stefan Porubsky et al.   CELL AND TISSUE RESEARCH

Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance

(2014) B.E. Smid et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Effective clearance of GL-3 in a human iPSC-derived cardiomyocyte model of Fabry disease

(2014) Jean-Michel Itier et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Gene Therapy for Fabry Disease: A Review of the Literature

(2013) Aritz Perez Ruiz de Garibay et al.   BIODRUGS

Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease

(2012) D. Marchesan et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease

(2012) C. Tondel et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Long-Term Effect of Antibodies against Infused Alpha-Galactosidase A in Fabry Disease on Plasma and Urinary (lyso)Gb3 Reduction and Treatment Outcome

(2012) Saskia M. Rombach et al.   PLoS One

Anti-α-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry Registry

(2011) William R. Wilcox et al.   MOLECULAR GENETICS AND METABOLISM

Receptor-Mediated Endocytosis of α-Galactosidase A in Human Podocytes in Fabry Disease

(2011) Thaneas Prabakaran et al.   PLoS One

Immunohistochemical diagnosis of Fabry nephropathy and localisation of globotriaosylceramide deposits in paraffin-embedded kidney tissue sections

(2011) Carmen Valbuena et al.   VIRCHOWS ARCHIV

Differences in Fabry Cardiomyopathy Between Female and Male Patients

(2011) Markus Niemann et al.   JACC-Cardiovascular Imaging

Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease

(2010) S.M. Rombach et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Plant-specific glycosylation patterns in the context of therapeutic protein production

(2010) Véronique Gomord et al.   PLANT BIOTECHNOLOGY JOURNAL

Substrate Reduction Augments the Efficacy of Enzyme Therapy in a Mouse Model of Fabry Disease

(2010) John Marshall et al.   PLoS One

Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy

(2009) Frank Weidemann et al.   CIRCULATION

Cardiac Microvascular Pathology in Fabry Disease

(2009) Beth L. Thurberg et al.   CIRCULATION

Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry

(2009) Stephen Waldek et al.   GENETICS IN MEDICINE

Intra-observer and interobserver variability of biventricular function, volumes and mass in patients with congenital heart disease measured by CMR imaging

(2009) Saskia E. Luijnenburg et al.   INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING

Substrate reduction therapy

(2008) Frances M Platt et al.   ACTA PAEDIATRICA

Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3

(2008) Anouk C. Vedder et al.   MOLECULAR GENETICS AND METABOLISM

A retrospective analysis of the potential impact of IgG antibodies to agalsidase β on efficacy during enzyme replacement therapy for Fabry disease

(2008) Bernard Bénichou et al.   MOLECULAR GENETICS AND METABOLISM

An autopsy case of Fabry disease with neuropathological investigation of the pathogenesis of associated dementia

(2008) Riki Okeda et al.   NEUROPATHOLOGY

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

(2008) J. M. Aerts et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA