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      Developments in the treatment of Fabry disease

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          Abstract

          Enzyme replacement therapy (ERT) with recombinant α‐galactosidase A (r‐αGAL A) for the treatment of Fabry disease has been available for over 15 years. Long‐term treatment may slow down disease progression, but cardiac, renal, and cerebral complications still develop in most patients. In addition, lifelong intravenous treatment is burdensome. Therefore, several new treatment approaches have been explored over the past decade. Chaperone therapy (Migalastat; 1‐deoxygalactonojirimycin) is the only other currently approved therapy for Fabry disease. This oral small molecule aims to improve enzyme activity of mutated α‐galactosidase A and can only be used in patients with specific mutations. Treatments currently under evaluation in (pre)clinical trials are second generation enzyme replacement therapies (Pegunigalsidase‐alfa, Moss‐aGal), substrate reduction therapies (Venglustat and Lucerastat), mRNA‐ and gene‐based therapy. This review summarises the knowledge on currently available and potential future options for the treatment of Fabry disease.

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          Enzyme replacement therapy in Fabry disease: a randomized controlled trial.

          R Schiffmann, J. B. Kopp, H Austin … (2001)
          Fabry disease is a metabolic disorder without a specific treatment, caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A). Most patients experience debilitating neuropathic pain and premature mortality because of renal failure, cardiovascular disease, or cerebrovascular disease. To evaluate the safety and efficacy of intravenous alpha-gal A for Fabry disease. Double-blind placebo-controlled trial conducted from December 1998 to August 1999 at the Clinical Research Center of the National Institutes of Health. Twenty-six hemizygous male patients, aged 18 years or older, with Fabry disease that was confirmed by alpha-gal A assay. A dosage of 0.2 mg/kg of alpha-gal A, administered intravenously every other week (12 doses total). Effect of therapy on neuropathic pain while without neuropathic pain medications measured by question 3 of the Brief Pain Inventory (BPI). Mean (SE) BPI neuropathic pain severity score declined from 6.2 (0.46) to 4.3 (0.73) in patients treated with alpha-gal A vs no significant change in the placebo group (P =.02). Pain-related quality of life declined from 3.2 (0.55) to 2.1 (0.56) for patients receiving alpha-gal A vs 4.8 (0.59) to 4.2 (0.74) for placebo (P =.05). In the kidney, glomeruli with mesangial widening decreased by a mean of 12.5% for patients receiving alpha-gal vs a 16.5% increase for placebo (P =.01). Mean inulin clearance decreased by 6.2 mL/min for patients receiving alpha-gal A vs 19.5 mL/min for placebo (P =.19). Mean creatinine clearance increased by 2.1 mL/min (0.4 mL/s) for patients receiving alpha-gal A vs a decrease of 16.1 mL/min (0.3 mL/s) for placebo (P =.02). In patients treated with alpha-gal A, there was an approximately 50% reduction in plasma glycosphingolipid levels, a significant improvement in cardiac conduction, and a significant increase in body weight. Intravenous infusions of alpha-gal A are safe and have widespread therapeutic efficacy in Fabry disease.
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            Immunogenicity to Biotherapeutics – The Role of Anti-drug Immune Complexes

            Murli Krishna, Steven Nadler (2016)
            Biological molecules are increasingly becoming a part of the therapeutics portfolio that has been either recently approved for marketing or those that are in the pipeline of several biotech and pharmaceutical companies. This is largely based on their ability to be highly specific relative to small molecules. However, by virtue of being a large protein, and having a complex structure with structural variability arising from production using recombinant gene technology in cell lines, such therapeutics run the risk of being recognized as foreign by a host immune system. In the context of immune-mediated adverse effects that have been documented to biological drugs thus far, including infusion reactions, and the evolving therapeutic platforms in the pipeline that engineer different functional modules in a biotherapeutic, it is critical to understand the interplay of the adaptive and innate immune responses, the pathophysiology of immunogenicity to biological drugs in instances where there have been immune-mediated adverse clinical sequelae and address technical approaches for their laboratory evaluation. The current paradigm in immunogenicity evaluation has a tiered approach to the detection and characterization of anti-drug antibodies (ADAs) elicited in vivo to a biotherapeutic; alongside with the structural, biophysical, and molecular information of the therapeutic, these analytical assessments form the core of the immunogenicity risk assessment. However, many of the immune-mediated adverse effects attributed to ADAs require the formation of a drug/ADA immune complex (IC) intermediate that can have a variety of downstream effects. This review will focus on the activation of potential immunopathological pathways arising as a consequence of circulating as well as cell surface bound drug bearing ICs, risk factors that are intrinsic either to the therapeutic molecule or to the host that might predispose to IC-mediated effects, and review the recent literature on prevalence and intensity of established examples of type II and III hypersensitivity reactions that follow the administration of a biotherapeutic. Additionally, we propose methods for the study of immune parameters specific to the biology of ICs that could be of use in conjunction with the detection of ADAs in circulation.
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              Plant-specific glycosylation patterns in the context of therapeutic protein production.

              Claude Saint-Ruf, Dominique S Michaud, Anne-Catherine Fitchette … (2010)
              While N-glycan synthesis in the endoplasmic reticulum (ER) is relatively well conserved in eukaryotes, N-glycan processing and O-glycan biosynthesis in the Golgi apparatus are kingdom specific and result in different oligosaccharide structures attached to glycoproteins in plants and mammals. With the prospect of using plants as alternative hosts to mammalian cell lines for the production of therapeutic glycoproteins, significant progress has been made towards the humanization of protein N-glycosylation in plant cells. To date, successful efforts in this direction have mainly focused on the targeted expression of therapeutic proteins, the knockout of plant-specific N-glycan-processing genes, and/or the introduction of the enzymatic machinery catalyzing the synthesis, transport and addition of human sugars. By contrast, very little attention has been paid until now to the O-glycosylation status of plant-made therapeutic proteins, which is surprising considering that hundreds of human proteins represent good candidates for Hyp-O glycosylation when produced in a plant expression system. This review describes protein N- and O-linked glycosylation in plants and highlights the limitations and advantages of plant-specific glycosylation on plant-made biopharmaceuticals.
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                Author and article information

                Contributors
                Mirjam Langeveld: m.langeveld@amc.uva.nl
                Journal
                Journal ID (nlm-ta): J Inherit Metab Dis
                Journal ID (iso-abbrev): J Inherit Metab Dis
                Journal ID (doi): 10.1002/(ISSN)1573-2665
                Journal ID (publisher-id): JIMD
                Title: Journal of Inherited Metabolic Disease
                Publisher: John Wiley & Sons, Inc. (Hoboken, USA )
                ISSN (Print): 0141-8955
                ISSN (Electronic): 1573-2665
                Publication date (Electronic): 02 March 2020
                Publication date (Print): September 2020
                Volume: 43
                Issue: 5 ( doiID: 10.1002/jimd.v43.5 )
                Pages: 908-921
                Affiliations
                [ 1 ] Department of Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam AZ Amsterdam The Netherlands
                [ 2 ] Department of Clinical Chemistry, Gastroenterology & Metabolism Amsterdam UMC, University of Amsterdam AZ Amsterdam The Netherlands
                Author notes
                [*] [* ] Correspondence

                Mirjam Langeveld, Amsterdam UMC, University of Amsterdam, Department of Endocrinology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

                Email: m.langeveld@ 123456amc.uva.nl

                Author information
                https://orcid.org/0000-0003-4745-5718
                Article
                Publisher ID: JIMD12228
                DOI: 10.1002/jimd.12228
                PMC ID: 7540041
                PubMed ID: 32083331
                SO-VID: 8ffb5732-1601-4b8d-8781-fcd68ef9469b
                Copyright © © 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM
                License:

                This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

                History
                Date received : 31 July 2019
                Date revision received : 10 February 2020
                Date accepted : 17 February 2020
                Page count
                Figures: 4, Tables: 0, Pages: 14, Words: 10244
                Categories
                Subject: Review Article
                Subject: Review Articles
                Custom metadata
                source-schema-version-number 2.0
                cover-date September 2020
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_JATSPMC version:5.9.2 mode:remove_FC converted:07.10.2020

                ScienceOpen disciplines: Internal medicine
                Keywords: chaperone therapy,enzyme replacement therapy (ert),fabry disease,gene therapy,substrate reduction therapy (srt),treatment
                Data availability:
                ScienceOpen disciplines: Internal medicine
                Keywords: chaperone therapy, enzyme replacement therapy (ert), fabry disease, gene therapy, substrate reduction therapy (srt), treatment

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