Review

. 2022 Mar 5;48(1):41.

doi: 10.1186/s13052-022-01219-4.

Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel

Vincenza Gragnaniello^{1

2}, Federica Deodato³, Serena Gasperini⁴, Maria Alice Donati⁵, Clementina Canessa⁶, Simona Fecarotta², Antonia Pascarella⁷, Giuseppe Spadaro², Daniela Concolino⁸, Alberto Burlina¹, Giancarlo Parenti^{2

9}, Pietro Strisciuglio², Agata Fiumara¹⁰, Roberto Della Casa^{11

12}

Affiliations

¹ Division of Inherited Metabolic Diseases - Department of Diagnostic Services, University Hospital of Padua, Padua, Italy.
² Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.
³ Unit of Metabolic Diseases, Ospedale Pediatrico Bambino Gesù, IRCCS|, Rome, Italy.
⁴ Metabolic Rare diseases Unit - Pediatric Department, Fondazione MBBM, University of Milano-Bicocca, Monza, Italy.
⁵ Metabolic and Neuromuscular Unit, Meyer Children Hospital-University of Florence, Florence, Italy.
⁶ Division of Pediatric Immunology - Department of Health Sciences, Meyer Children Hospital-University of Florence, Florence, Italy.
⁷ AORN Santobono Pausilipon, Naples, Italy.
⁸ Pediatrics - Science of Health Department, University "Magna Graecia", Catanzaro, Italy.
⁹ Telethon Institute of Genetics and Medicine, Naples, Italy.
¹⁰ Regional Referral Centre for Metabolic Diseases (CRR-MET), UOC Pediatric Clinic - Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
¹¹ Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy. roberto.dellacasa@unina.it.
¹² Dipartimento Materno Infantile, A.O. San Pio, Benevento, Italy. roberto.dellacasa@unina.it.

PMID: 35248118
PMCID: PMC8898438
DOI: 10.1186/s13052-022-01219-4

Review

Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel

Vincenza Gragnaniello et al. Ital J Pediatr. 2022.

. 2022 Mar 5;48(1):41.

doi: 10.1186/s13052-022-01219-4.

Authors

Affiliations

¹ Division of Inherited Metabolic Diseases - Department of Diagnostic Services, University Hospital of Padua, Padua, Italy.
² Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.
³ Unit of Metabolic Diseases, Ospedale Pediatrico Bambino Gesù, IRCCS|, Rome, Italy.
⁴ Metabolic Rare diseases Unit - Pediatric Department, Fondazione MBBM, University of Milano-Bicocca, Monza, Italy.
⁵ Metabolic and Neuromuscular Unit, Meyer Children Hospital-University of Florence, Florence, Italy.
⁶ Division of Pediatric Immunology - Department of Health Sciences, Meyer Children Hospital-University of Florence, Florence, Italy.
⁷ AORN Santobono Pausilipon, Naples, Italy.
⁸ Pediatrics - Science of Health Department, University "Magna Graecia", Catanzaro, Italy.
⁹ Telethon Institute of Genetics and Medicine, Naples, Italy.
¹⁰ Regional Referral Centre for Metabolic Diseases (CRR-MET), UOC Pediatric Clinic - Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
¹¹ Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy. roberto.dellacasa@unina.it.
¹² Dipartimento Materno Infantile, A.O. San Pio, Benevento, Italy. roberto.dellacasa@unina.it.

PMID: 35248118
PMCID: PMC8898438
DOI: 10.1186/s13052-022-01219-4

Abstract

Background: Classic infantile onset of Pompe disease (c-IOPD) leads to hypotonia and hypertrophic cardiomyopathy within the first days to weeks of life and, without treatment, patients die of cardiorespiratory failure in their first 1-2 years of life. Enzymatic replacement therapy (ERT) with alglucosidase alfa is the only available treatment, but adverse immune reactions can reduce ERT's effectiveness and safety. It is therefore very important to identify strategies to prevent and manage these complications. Several articles have been written on this disease over the last 10 years, but no univocal indications have been established.

Methods: Our study presents a review of the current literature on management of immune responses to ERT in c-IOPD as considered by an Italian study group of pediatric metabolists and immunologists in light of our shared patient experience.

Results: We summarize the protocols for the management of adverse reactions to ERT, analyzing their advantages and disadvantages, and provide expert recommendations for their optimal management, to the best of current knowledge. However, further studies are needed to improve actual management protocols, which still have several limitations.

Keywords: CRIM status; Desensitization; Immune tolerance induction; Infusion associated reactions; Pompe disease.

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Conflict of interest statement

A.B.: was/is a member of Scientific Advisory Boards and received honoraria from Genzyme, Biomarin, Nutricia, APR, PIAM, Takeda, Recordati Rare Diseases; A.F.: financial support for University Research Grants by Sanofi-Genzyme; guest and travel expenses for National and International congresses by Takeda, Sanofi Genzyme and Biomarin; A.P.: none; C.C.: none; D.C.: none; F.D.: none; G.P.: none; G.S.: none; M.A. Donati: none; P.S.: none; R.D.C.: none; S.F.: none; S.G.: declares travel grants and consulting fees from Genzyme Sanofi; V.G.: none.

Figures

**Fig. 1**
Approach to a child with suspected Pompe disease

See this image and copyright information in PMC

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Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel

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Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel

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