title: SWORD: A simplified desensitization protocol for enzyme replacement therapy in adult Pompe disease.
abstract: Pompe disease is an inherited lysosomal disease in which there is a decrease or absence of acid alpha-glucosidase activity. This enzyme defect induces glycogen storage in different tissues, especially muscle and heart, resulting in muscle weakness, respiratory failure and heart disease. Substitutive enzyme replacement therapy (ERT) dispensed every two weeks is the only treatment that has shown benefits. However, this treatment induces hypersensitivity for half of the treated patients. Reactions range from mild to severe, sometimes requiring ERT suspension and anti-anaphylaxis drug administration. Understandably, high amount of acid alpha-glucosidase infusion seems to be identified by the immune system as a danger associated molecular pattern, and induce an immune reaction, involving sometimes, but not always, immunoglobulin E (IgE) production and activating mast and basophil polynuclear cells. Considering the lack of therapeutic alternatives and the proved benefit of ERT, desensitization finds its place here. We hereby report the case of a patient for whom a simplified desensitization protocol ("SWORD": Start With One Regular Drop) was successfully achieved, allowing ERT to be pursued, resulting eventually in clinical improvement.
authors.affiliation: Department of Clinical Immunology, Edouard Herriot University Hospital, 5 place d'Arsonvaal, 69437 Lyon Cedex 03, France; INMG, CNRS UMR 5310-INSERM U1217, University Lyon 1, France.
authors.forename: Laure
authors.initials: L
authors.lastname: Gallay
authors.affiliation: Department of Neurology, Croix-Rousse Hospital, Hospices Civils de Lyon, Claude Bernard University Lyon 1, Grande rue de la croix rousse, 69004 Lyon, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Petiot
authors.affiliation: Department of Internal and Vascular Medicine, Lyon Sud University Hospital, 69495 Pierre Bénite, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Durieu
authors.affiliation: INMG, CNRS UMR 5310-INSERM U1217, University Lyon 1, France; Department of Neuropathology, Hospices Civils de Lyon, Neurology and Neurosurgery Pierre Wertheimer University Hospital, Boulevard Pinel, 69500 Bron, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Streichenberger
authors.affiliation: Department of Allergy and Clinical Immunology, Hospital Center Lyon Sud, 69495 Pierre Bénite, France; University Lyon 1, France. Electronic address: Frederic.berard@chu-lyon.fr.
authors.forename: Frederic
authors.initials: F
authors.lastname: Berard
mesh_terms: D000328:Adult; D002985:Clinical Protocols; D004342:Drug Hypersensitivity / Q000517:prevention & control*; D056947:Enzyme Replacement Therapy / Q000009:adverse effects* / Q000379:methods*; D005260:Female; D005087:Glucan 1,4-alpha-Glucosidase / Q000008:administration & dosage* / Q000009:adverse effects*; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy*; D006801:Humans
chemical_list: D005087:Glucan 1,4-alpha-Glucosidase
keywords: Desensitization; Enzyme replacement therapy; Hypersensitivity; Pompe disease; Simplified protocol