Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry.


Journal

Molecular genetics and metabolism
ISSN: 1096-7206
Titre abrégé: Mol Genet Metab
Pays: United States
ID NLM: 9805456

Informations de publication

Date de publication:
07 2023
Historique:
received: 22 03 2023
revised: 17 05 2023
accepted: 17 05 2023
medline: 3 7 2023
pubmed: 8 6 2023
entrez: 7 6 2023
Statut: ppublish

Résumé

Pompe disease is a rare hereditary glycogen storage disorder due to lysosomal acid alpha-glucosidase deficiency. Enzyme replacement therapy (ERT) is the only available treatment. Infusion-associated reactions (IAR) are challenging since there are no guidelines for ERT rechallenge after a drug hypersensitivity reaction (DHR) in Pompe disease. The objective of the present study was to describe IAR and their management in late-onset Pompe disease (LOPD) patients in France, and to discuss the various possibilities of ERT rechallenge. An exhaustive screening of LOPD patients receiving ERT between 2006 and 2020 from the 31-participating hospital-based or reference centers was performed. The patients who had presented at least one hypersensitivity IAR (=DHR) episode were included. Demographic characteristics of the patients, IAR onset and timing, were retrospectively collected from the French Pompe Registry. Fifteen patients among 115 treated LOPD patients in France presented at least 1 IAR; 80.0% were women. Twenty-nine IAR were reported; 18 (62.1%) IAR were Grade I reactions, 10 (34.5%) IAR were Grade II, and 1 (3.4%) IAR was Grade III. IgE-mediated hypersensitivity was found in 2/15 patients (13.3%). The median [IQR] time from ERT introduction to the first IAR was 15.0 months [11.0-24.0]. ERT was safely and effectively re-introduced either with premedication alone, or in combination with either modified regimen or desensitization protocol, in all 9 rechallenged patients; including in patients with IgE-mediated hypersensitivity, in the patient with the Grade III reaction, as well as in patients with very high anti-GAA titer. Based on the results herein and previous reports, we discuss premedication and modified regimen for Grade I reactions, and desensitization in Grade II and III reactions. In conclusion, ERT-induced IAR can be safely and effectively managed with a modified regimen or desensitization protocol in LOPD patients.

Sections du résumé

BACKGROUND AND OBJECTIVES
Pompe disease is a rare hereditary glycogen storage disorder due to lysosomal acid alpha-glucosidase deficiency. Enzyme replacement therapy (ERT) is the only available treatment. Infusion-associated reactions (IAR) are challenging since there are no guidelines for ERT rechallenge after a drug hypersensitivity reaction (DHR) in Pompe disease. The objective of the present study was to describe IAR and their management in late-onset Pompe disease (LOPD) patients in France, and to discuss the various possibilities of ERT rechallenge.
METHODS
An exhaustive screening of LOPD patients receiving ERT between 2006 and 2020 from the 31-participating hospital-based or reference centers was performed. The patients who had presented at least one hypersensitivity IAR (=DHR) episode were included. Demographic characteristics of the patients, IAR onset and timing, were retrospectively collected from the French Pompe Registry.
RESULTS
Fifteen patients among 115 treated LOPD patients in France presented at least 1 IAR; 80.0% were women. Twenty-nine IAR were reported; 18 (62.1%) IAR were Grade I reactions, 10 (34.5%) IAR were Grade II, and 1 (3.4%) IAR was Grade III. IgE-mediated hypersensitivity was found in 2/15 patients (13.3%). The median [IQR] time from ERT introduction to the first IAR was 15.0 months [11.0-24.0]. ERT was safely and effectively re-introduced either with premedication alone, or in combination with either modified regimen or desensitization protocol, in all 9 rechallenged patients; including in patients with IgE-mediated hypersensitivity, in the patient with the Grade III reaction, as well as in patients with very high anti-GAA titer.
DISCUSSION
Based on the results herein and previous reports, we discuss premedication and modified regimen for Grade I reactions, and desensitization in Grade II and III reactions. In conclusion, ERT-induced IAR can be safely and effectively managed with a modified regimen or desensitization protocol in LOPD patients.

Identifiants

pubmed: 37285781
pii: S1096-7192(23)00241-X
doi: 10.1016/j.ymgme.2023.107611
pii:
doi:

Substances chimiques

alpha-Glucosidases EC 3.2.1.20

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

107611

Informations de copyright

Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest Dr. Tard reports personal fees and non-financial support from Sanofi-Genzyme. The other authors declare no conflict of interest. Dr. Salort-Campana has received from Sanofi Genzyme travel grants and honoraria for teaching courses, lectures in the last five years and has also received honoraria from Amicus for her participation to the Amicus Advisory Board meetings.

Auteurs

Lola E R Lessard (LER)

Service d'Electroneuromyographie et de Pathologies neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Lyon, France; INMG INSERM U1217, Université Claude Bernard Lyon 1, Faculté de Médecine Lyon Est, Lyon, France. Electronic address: lola.lessard@chu-lyon.fr.

Céline Tard (C)

Centre de Référence des Maladies Neuromusculaires Nord Est Ile de France, CHU Lille, Lille, France; Université de Lille, INSERM U1171, Lille, France.

Emmanuelle Salort-Campana (E)

Centre de Référence des Maladies Neuromusculaires, Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille, Marseille, France; INSERM, MMG, UMR 1251, Aix Marseille Université, Marseille, France.

Sabrina Sacconi (S)

Centre Hospitalier Universitaire de Nice, Muscle & ALS Department, Pasteur 2 Hospital, Nice, France; Université Côte d'Azur, Peripheral Nervous System, Nice, France.

Anthony Béhin (A)

Institut de Myologie, AP-HP, Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile-de-France, G-H Pitié Salpêtrière, Paris, France.

Guillaume Bassez (G)

Institut de Myologie, AP-HP, Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile-de-France, G-H Pitié Salpêtrière, Paris, France.

David Orlikowski (D)

Centre d'Investigation Clinique et Innovation technologique CIC 14.29, INSERM, Garches, France.

Philippe Merle (P)

Service d'explorations Fonctionnelles du Système Nerveux, CHU Amiens Picardie, Site Sud, Amiens, France.

Sylvain Nollet (S)

Service Explorations et Pathologies Neuromusculaires, CHRU Besançon, Besançon, France.

Laure Gallay (L)

INMG INSERM U1217, Université Claude Bernard Lyon 1, Faculté de Médecine Lyon Est, Lyon, France; Département de Médecine Interne et Immunologie Clinique, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France.

Frédéric Bérard (F)

Service d'Immunologie Clinique et Allergologie, Pavillon 1K, Centre Hospitalier Lyon-Sud, Hospices Civils de Lyon, Pierre-Bénite, France.

Philip Robinson (P)

Direction de la Recherche en Santé, Hospices Civils de Lyon, Lyon, France.

Françoise Bouhour (F)

Service d'Electroneuromyographie et de Pathologies neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Lyon, France; INMG INSERM U1217, Université Claude Bernard Lyon 1, Faculté de Médecine Lyon Est, Lyon, France.

Pascal Laforêt (P)

Service de Neurologie, CHU Raymond Poincaré, APHP, Garches, France; Université de Versailles Saint Quentin en Yvelines, Garches, France.

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