Skip to main content

For US Healthcare Professionals only

Lumizyme® (alglucosidase alfa) logo

Request a Rep

Pompe Disease Overview

Pompe disease is a progressive, debilitating, and often fatal neuromuscular disorder1-3

Pompe disease is also known as acid maltase deficiency or glycogen storage disease type II1

Caused by a deficiency of the enzyme acid alfa glucosidase (GAA), Pompe is characterized by progressive glycogen accumulation primarily in the lysosomes of muscle cells.1,2 It is an autosomal recessive genetic disorder, affecting both sexes equally.1

Early diagnosis is important to disease management3

  • Pompe is progressive, even in the absence of overt signs and symptoms3
  • The symptoms of Pompe can be seen in other neuromuscular disorders, so a definitive diagnosis is important to determine appropriate treatment options3
  • Diagnosis can be confirmed by enzyme assay demonstrating low GAA activity and by GAA gene sequencing1
A young boy smiling while sitting at a table
Lightbulb representing learning about beginning treatment

Learn How Lumizyme® (alglucosidase alfa) Works

See the Mechanism of Action →
Icon of a baby representing the evaluation of treatment efficacy in patients with infantile-onset Pompe disease (IOPD).

Efficacy in IOPD Patients
  

View the Data →

IOPD=infantile-onset Pompe disease.

Indication

LUMIZYME® (alglucosidase alfa) is a hydrolytic lysosomal glycogen-specific enzyme indicated for patients with Pompe disease (GAA deficiency).

Important Safety Information

WARNING: HYPERSENSITIVITY REACTIONS INCLUDING ANAPHYLAXIS, IMMUNE-MEDIATED REACTIONS, AND RISK OF ACUTE CARDIORESPIRATORY FAILURE

Hypersensitivity Reactions Including Anaphylaxis
Patients treated with enzyme replacement therapies have experienced life-threatening hypersensitivity reactions, including anaphylaxis. Anaphylaxis has occurred during the early course of enzyme replacement therapy and after extended duration of therapy. Initiate LUMIZYME in a healthcare setting with appropriate medical monitoring and support measures, including cardiopulmonary resuscitation equipment. If a severe hypersensitivity reaction (e.g. anaphylaxis) occurs, discontinue LUMIZYME immediately and initiate appropriate medical treatment, including the use of epinephrine.

Consider risks and benefits of re-administering LUMIZYME following severe hypersensitivity reactions. If a mild or moderate hypersensitivity reaction occurs, the infusion rate may be slowed or temporarily stopped. Prior to LUMIZYME administration, consider pretreating with antihistamines, antipyretics, and/or corticosteroids.

Immune-Mediated Reactions
Immune-mediated reactions presenting as proteinuria, nephrotic syndrome, and necrotizing skin lesions have occurred in some patients following LUMIZYME treatment. Monitor patients for the development of systemic immune-mediated reactions involving skin and other organs while receiving LUMIZYME.

Risk of Acute Cardiorespiratory Failure
Infantile-onset Pompe disease (IOPD) patients with compromised cardiac or respiratory function may be at risk of serious acute exacerbation of their cardiac or respiratory compromise due to fluid overload and require additional monitoring.

WARNINGS AND PRECAUTIONS

Infusion Associated Reactions (IARs)
Infusion Associated Reactions (IARs) have been observed in patients treated with Lumizyme. Discontinue immediately or adjust the infusion rate and provide medical treatment based on the severity of the reaction. Closely monitor patients who have experienced IARs when re-administering LUMIZYME.

Risk of Cardiac Arrhythmia and Sudden Cardiac Death during General Anesthesia for Central Venous Catheter Placement
Caution should be used when administering general anesthesia for the placement of a central venous catheter intended for LUMIZYME infusion.

Risk of Developing Anti-alglucosidase Alfa Antibodies (ADA)
Patients with IOPD should have a cross-reactive immunologic material (CRIM) assessment early in their disease course and be managed by a specialist knowledgeable in immune tolerance induction in Pompe disease to optimize treatment. Evidence suggests that patients who develop high and sustained IgG ADA antibody titers may experience reduced clinical efficacy.

Patients should be monitored for IgG ADA antibody formation beginning at baseline, then regularly during the first year of treatment with subsequent monitoring as clinically warranted. Patients who experience hypersensitivity reactions, including anaphylaxis, may also be tested for IgE antibodies to LUMIZYME and other mediators of anaphylaxis.

ADVERSE REACTIONS

The most frequently reported adverse reactions (≥ 5%) in clinical trials were hypersensitivity reactions and included: anaphylaxis, rash, pyrexia, flushing/feeling hot, urticaria, headache, hyperhidrosis, nausea, cough, decreased oxygen saturation, tachycardia, tachypnea, chest discomfort, dizziness, muscle twitching, agitation, cyanosis, erythema, hypertension/increased blood pressure, pallor, rigors, tremor, vomiting, fatigue, and myalgia.

Please see full Prescribing Information, including Boxed WARNING.

Indication

Important Safety Information

Reference: 1. Hirschorn R et al. In: Valle D, Beaud AL New York, NY: McGraw-Hill; 2014. 2. Ausems MG, et al. Eur J Hum Genet. 1999 Sep;7(6):713-716. 3. Kishnani PS et al. J Pediatr. 2004;144(suppl 5):S35–S43.

©2025 Sanofi. All rights reserved. Lumizyme and Sanofi are registered trademarks of Sanofi or an affiliate. MAT-US-2510391-v1.0-09/2025

Back to top
sanofi_campus_logo
Back to top
SitemapLegal NoticePrivacy PolicyCookie PolicyDo Not Sell or Share My Personal InformationContact
© 2025 Sanofi. All rights reserved.