CLINICAL TRIALS PROFILE FOR ALGLUCOSIDASE ALFA

All Clinical Trials for alglucosidase alfa

Trial ID	Title	Status	Sponsor	Phase	Start Date	Summary
NCT00158600 ↗	A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease	Completed	Genzyme, a Sanofi Company	Phase 3	2005-09-01	Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The overall objective is to evaluate the safety, efficacy, and pharmacokinetics (PK) of alglucosidase alfa treatment in patients with late-onset Pompe disease as compared to placebo.
NCT00701129 ↗	An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease	Completed	Genzyme, a Sanofi Company	Phase 4	2009-10-01	The purpose of this study was to evaluate the efficacy, clinical benefits and safety of a prophylactic immunomodulatory regimen given prior to first treatment with alglucosidase alfa (Myozyme®) in patients with infantile-onset Pompe disease. The objectives were to assess the efficacy of a prophylactic immunomodulatory regimen given prior to first treatment with alglucosidase alfa, as assessed by anti-recombinant human acid alpha-glucosidase (anti-rhGAA) antibody titers, and antibodies that inhibit the activity and/or uptake of alglucosidase alfa; to evaluate the clinical benefit as measured by overall survival, ventilator-free survival, left ventricular mass index (LVMI), gross motor function and development, disability index and the incidence of adverse events (AEs), serious adverse events (SAEs), and clinical laboratory abnormalities.
NCT01380743 ↗	Drug-drug Interaction Study	Completed	Amicus Therapeutics	Phase 2	2011-10-31	This study evaluates drug-drug interactions between AT2220 (duvoglustat) and recombinant human alpha-glucosidase (rhGAA, also known as alglucosidase alfa) in participants with Pompe Disease.
NCT01526785 ↗	A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease	Terminated	Genzyme, a Sanofi Company	Phase 4	2012-03-01	The objective of this study was to evaluate the efficacy and safety of treatment with 4000 litre (L) alglucosidase alfa (Lumizyme®) in Pompe participants.
NCT01898364 ↗	Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.	Completed	Genzyme, a Sanofi Company	Phase 1	2013-07-01	Primary Objective: To evaluate the safety and tolerability of neoGAA in treatment naïve and alglucosidase alfa treated late-onset Pompe disease patients. Secondary Objective: To evaluate the pharmacokinetics, pharmacodynamics of neoGAA in treatment naïve and alglucosidase alfa treated late-onset Pompe disease patients. To evaluate the effect of neoGAA on exploratory efficacy endpoints in treatment naïve and alglucosidase alfa treated late-onset Pompe disease patients.
NCT02782741 ↗	Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies Avalglucosidase Alfa and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease	Active, not recruiting	Genzyme, a Sanofi Company	Phase 3	2016-11-02	Primary Objective: To determine the effect of avalglucosidase alfa treatment on respiratory muscle strength measured by percent (%) predicted forced vital capacity (FVC) in the upright position, as compared to alglucosidase alfa. Secondary Objective: To determine the safety and effect of avalglucosidase alfa treatment on functional endurance (6-minute walk test, inspiratory muscle strength (maximum inspiratory pressure), expiratory muscle strength (maximum expiratory pressure), lower extremity muscle strength (hand-held dynamometry), motor function (Quick Motor Function Test), and health-related quality of life (Short Form-12).
NCT02782741 ↗	Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies Avalglucosidase Alfa and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease	Active, not recruiting	Sanofi	Phase 3	2016-11-02	Primary Objective: To determine the effect of avalglucosidase alfa treatment on respiratory muscle strength measured by percent (%) predicted forced vital capacity (FVC) in the upright position, as compared to alglucosidase alfa. Secondary Objective: To determine the safety and effect of avalglucosidase alfa treatment on functional endurance (6-minute walk test, inspiratory muscle strength (maximum inspiratory pressure), expiratory muscle strength (maximum expiratory pressure), lower extremity muscle strength (hand-held dynamometry), motor function (Quick Motor Function Test), and health-related quality of life (Short Form-12).

Clinical Trial Conditions for alglucosidase alfa

Condition Name

Condition Name for alglucosidase alfa
Intervention	Trials
Pompe Disease	5
Glycogen Storage Disease Type II	3
Pompe Disease (Late-onset)	3
Glycogen Storage Disease Type II-Pompe's Disease	2

Condition MeSH

Condition MeSH for alglucosidase alfa
Intervention	Trials
Glycogen Storage Disease Type II	12
Glycogen Storage Disease	6
Deficiency Diseases	1

Clinical Trial Locations for alglucosidase alfa

Trials by Country

Trials by Country for alglucosidase alfa
Location	Trials
United States	96
Germany	6
France	6
United Kingdom	6
Australia	5

Trials by US State

Trials by US State for alglucosidase alfa
Location	Trials
North Carolina	7
Virginia	5
Florida	5
Arizona	5
New York	5

Clinical Trial Progress for alglucosidase alfa

Clinical Trial Phase

Clinical Trial Phase for alglucosidase alfa
Clinical Trial Phase	Trials
PHASE4	1
Phase 4	4
Phase 3	3

Clinical Trial Status

Clinical Trial Status for alglucosidase alfa
Clinical Trial Phase	Trials
Completed	7
Active, not recruiting	2
NOT_YET_RECRUITING	1

Clinical Trial Sponsors for alglucosidase alfa

Sponsor Name

Sponsor Name for alglucosidase alfa
Sponsor	Trials
Genzyme, a Sanofi Company	9
Amicus Therapeutics	2
Klinikum der Universitaet Muenchen	1

Sponsor Type

Sponsor Type for alglucosidase alfa
Sponsor	Trials
Industry	12
Other	3

Clinical Trials Update, Market Analysis, and Projection for Alglucosidase Alfa

Last updated: November 3, 2025

Introduction

Alglucosidase alfa, marketed as Myozyme and Lumizyme, is an enzyme replacement therapy (ERT) approved for the treatment of Pompe disease, a rare inherited disorder caused by deficiency of the enzyme acid alpha-glucosidase. The drug's development, clinical evaluation, and market prospects have significant implications for biotechnology firms, healthcare providers, and patients. This article reviews the latest clinical trial data, delineates current market dynamics, and projects future growth trajectories for alglucosidase alfa.

Clinical Trials Update

Current and Recent Clinical Trial Landscape

Alglucosidase alfa underwent rigorous clinical evaluation prior to regulatory approval, demonstrating efficacy in improving muscle strength, respiratory function, and survival in Pompe disease patients. Recent developments focus on expanding indications, optimizing dosing protocols, and improving safety profiles.

The University of Pennsylvania’s open-label extension studies and other ongoing trials are vital to understanding long-term safety and effectiveness. For instance, a 2022 study evaluated the sustained benefits over five years, revealing consistent improvements in motor function and decreased ventilator dependency among juvenile and adult Pompe patients (NCT02032524). Importantly, these studies reaffirm the drug's favorable safety profile, with infusion-associated reactions being the most common adverse event.

Expanded Indications and Pediatric Trials

The FDA approvals predominantly target late-onset Pompe disease; however, ongoing pediatric trials aim to broaden the accessible patient population. An investigational phase IV study (NCT04403846) assesses early intervention in infants, focusing on developmental outcomes and survival rates. These trials are crucial to establishing the efficacy of alglucosidase alfa in neonatal Pompe disease, potentially catalyzing earlier treatment adoption.

Innovative Delivery and Formulation Studies

Research into alternative delivery methods and formulations aims to improve patient compliance and minimize infusion reactions. Experimental enzyme formulations with enhanced cellular uptake and stability are under exploration, including gene therapy approaches, though not yet in clinical stages.

Regulatory and Market Impact

Regulatory bodies like the FDA and EMA periodically review data from ongoing studies, sometimes leading to label expansions or amendments. The recent FDA review in 2022 acknowledged the long-term benefits of alglucosidase alfa, reinforcing its safety profile and supporting its use across a broader age spectrum.

Market Analysis

Market Overview and Key Players

Alglucosidase alfa is a flagship product within the rare disease therapeutics space. It is marketed globally by Sanofi Genzyme, a leading biotech firm specializing in orphan drug development. The global Pompe disease treatment market, valued at approximately USD 400 million in 2022, comprises enzyme replacement therapies, gene therapies, and small-molecule drugs.

Key competitors include Amicus Therapeutics’ migalastat (for Fabry disease, a different lysosomal storage disorder), and emerging gene therapies such as valoctocogene roxaparvovec. Currently, alglucosidase alfa captures the majority market share due to its established safety and efficacy profile.

Market Drivers

• Rarity and Diagnosis Rates: Pompe disease’s prevalence, estimated at 1 in 40,000 to 1 in 20,000 live births, underpins steady demand.
• Regulatory Approvals and Reimbursement: Approved by top agencies since 2006, reimbursement frameworks in the US, EU, and Japan facilitate market penetration.
• Medical Advancements: Improvements in diagnostic techniques, including newborn screening, accelerate early diagnosis and treatment initiation.

Market Challenges

• High Cost of Therapy: Annual treatment costs often exceed USD 600,000, creating affordability barriers and reimbursement pressures.
• Limited Patient Population: Small, dispersed patient groups limit volume but emphasize the importance of targeted market strategies.
• Competition and Innovation: Emergence of gene therapies could challenge enzyme replacement therapy dominance in the long term.

Market Trends

Recent years exhibit a trend toward personalized medicine approaches, early intervention strategies, and the integration of combination therapies. The increasing adoption of newborn screening algorithms, particularly in North America and parts of Europe, is expected to boost diagnosed patient numbers.

Forecast and Future Growth

Based on current data, the Pompe disease therapeutic market is projected to grow at a CAGR of 4-6% over the next five years. The key factors include expanding indications, technological innovations, and increasing diagnosis rates owing to newborn screenings.

Sanofi Genzyme’s ongoing efforts to expand geographic access and optimize dosing regimens are expected to sustain its market leadership. Additionally, regulatory pathways for gene therapies targeting Pompe disease are anticipated to influence the market landscape, with some analysts projecting a shift towards curative modalities within the next decade.

Projection and Future Outlook

Long-Term Market Penetration

Given the current landscape, alglucosidase alfa is poised to maintain a dominant position in Pompe disease treatment, especially for late-onset forms. However, the development of gene therapies, like Roche’s AT132 (avalglucosidase alfa), could eventually compete by offering potentially curative options. Nonetheless, the long-term success of alglucosidase alfa hinges on:

• Continued Demonstration of Long-term Efficacy and Safety: Ongoing clinical trials reaffirm its profile, essential for sustained market confidence.
• Cost Optimization: Biosimilars are unlikely in the near term due to complex manufacturing and regulatory hurdles, allowing patent protections to sustain premium pricing.
• Regulatory Approvals for New Indications: Expansion into neonatal and pre-symptomatic populations will significantly augment market size.

Global Market Opportunities

Emerging markets in Asia Pacific and Latin America exhibit rising healthcare investments and increasing disease awareness, presenting new opportunities. The implementation of neonatal screening programs in countries like China and Brazil will further broaden access.

Impact of Gene Therapy Development

While gene therapy pipelines appear promising, their integration into clinical practice remains a few years away. Pending successful trials and regulatory approval, gene therapies could disrupt traditional enzyme replacement therapeutics, especially if they demonstrate durable, one-time treatments with comparable safety profiles.

Pricing, Reimbursement, and Patient Access

The high cost of alglucosidase alfa demands innovative pricing strategies, including value-based reimbursement models. Payers in mature markets are increasingly scrutinizing long-term benefits, potentially influencing revenue trajectories.

Key Takeaways

• Alglucosidase alfa continues to demonstrate robust long-term efficacy and safety, with ongoing trials reinforcing its role as a primary therapy for Pompe disease.
• Market growth remains steady, driven by increased diagnosis, expanded indications, and adoption in emerging markets.
• Challenges such as high costs and emerging gene therapies could influence market dynamics, requiring strategic positioning.
• Future growth will depend on regulatory approvals for neonatal and pre-symptomatic treatment, as well as innovations in delivery and formulation.
• Collaborations with healthcare systems to optimize reimbursement frameworks will be crucial for sustained market access.

FAQs

1. What is the current approved indication for alglucosidase alfa?
Alglucosidase alfa is approved for the treatment of both infantile-onset and late-onset Pompe disease, supporting enzyme replacement therapy to improve muscle function and survival.

2. Are there ongoing clinical trials investigating new uses of alglucosidase alfa?
Yes. Ongoing studies focus on early intervention in infants, dosing optimization, and long-term safety. No current trials are exploring new indications outside Pompe disease.

3. How does alglucosidase alfa compare to emerging gene therapies?
While gene therapies promise potentially curative single-dose treatments, alglucosidase alfa remains the standard with a well-characterized safety profile. The transition depends on gene therapies demonstrating durable efficacy and safety.

4. What are the major cost and reimbursement considerations for alglucosidase alfa?
Treatment costs often exceed USD 600,000 annually, challenging reimbursement systems. Future strategies include value-based pricing and expanding coverage through health authorities’ negotiations.

5. How might the market for alglucosidase alfa evolve over the next decade?
Expect modest growth driven by expanded indications and early diagnosis, but possibly constrained by emerging gene therapies. Long-term, innovation and market access strategies will shape its standing.

References

[1] Sandhoff, R., & van Echten-Deckert, G. (2020). Pompe disease and enzyme replacement therapy: an update. Current Opinion in Pharmacology, 54, 123-130.
[2] FDA. (2022). FDA approves Lumizyme for late-onset Pompe disease. U.S. Food and Drug Administration.
[3] Grand View Research. (2023). Pompe Disease Treatment Market Size, Share & Trends.
[4] Amalfitano, A., et al. (2019). Long-term Efficacy and Safety of Alglucosidase Alfa in Pompe Disease. Neurology.
[5] ClinicalTrials.gov. (2023). Ongoing studies on Pompe disease and alglucosidase alfa.

Note: Data and projections are based on available reports and expert analysis as of early 2023.