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Acid Maltase

Q: What should I monitor during treatment?

Patients need regular monitoring for infusion-related reactions and allergies, particularly during the initial doses.

Q: How often should the treatment be administered?

Infusions are generally given every other week to maintain optimal therapeutic levels of the enzyme.

Q: What improvements can I expect from treatment?

Patients may see improvements in walking ability and stabilization of respiratory function after starting therapy.

Q: Does enzyme therapy cure Pompe disease?

No, ERT manages symptoms and can slow disease progression but does not cure Pompe disease.

Also known as: acid maltase, pompe enzyme, recombinant human acid alpha-glucosidase, Acid alpha-glucosidase

Overview

Acid alpha-glucosidase is a critical enzyme produced in the body that plays a vital role in breaking down glycogen into glucose within lysosomes. Deficiency of this enzyme leads to Pompe disease, a serious genetic disorder impacting muscle and respiratory functions. Treatment options primarily include enzyme replacement therapy (ERT) via intravenous infusion of recombinant human enzyme, which has shown substantial efficacy in clinical studies. ERT is particularly effective for patients with late-onset Pompe disease (LOPD), enhancing quality of life and managing symptoms through glycemic control. Research has validated positive outcomes associated with exogenous enzyme supplementation, making it a key therapeutic approach for glycogen storage diseases.

Benefits

Clinical evidence shows that acid alpha-glucosidase significantly improves outcomes for individuals with late-onset Pompe disease, notably enhancing walking ability and stabilizing respiratory function. A meta-analysis revealed that patients undergoing ERT show an average increase of 32 meters in the 6-minute walk test (6MWT) in comparison to untreated individuals, signifying meaningful clinical enhancement. Additionally, the treatment helps maintain forced vital capacity (FVC) and respiratory health, although improvement levels are variable. The most pronounced benefits are observed in younger patients (≤50 years) and typically manifest within the first year of therapy, underscoring the necessity for ongoing treatment for optimal long-term disease management.

How it works

Acid alpha-glucosidase replaces the deficient enzyme in lysosomes, facilitating the breakdown of glycogen into glucose. This enzymatic action prevents glycogen accumulation in muscle and other tissues, helping to preserve muscle functionality and respiratory capabilities. By targeting glycogen within lysosomal structures, the enzyme significantly mitigates the adverse effects associated with Pompe disease. Administered via intravenous infusion, the treatment ensures high bioavailability and concentrated action on tissues affected by glycogen storage abnormalities.

Side effects

The safety profile of acid alpha-glucosidase therapy is generally favorable, with most adverse effects being mild to moderate. Commonly observed side effects, affecting over 5% of patients, include infusion-related reactions such as rash, urticaria, and hypersensitivity responses. Fewer patients (1-5%) might experience allergic reactions, whereas severe anaphylaxis occurs infrequently (<1%). While major drug interactions have not been documented, caution is recommended when administered alongside other intravenous treatments. This therapy is contraindicated in individuals with a known hypersensitivity to the enzyme or its components, and caution is advised for patients with prior allergic reactions or immune issues.

Dosage

The standard recommended dosage for acid alpha-glucosidase is approximately 20 mg/kg, administered biweekly via intravenous infusion. This regimen optimizes treatment efficacy, with no notable benefits at higher dosages. Dosing is typically scheduled every two weeks to sustain therapeutic effectiveness. Importantly, there is no recognized maximum safe dosage associated with this therapy, and the IV route ensures high bioavailability without requiring supplementary cofactors to support enzyme activity.