CLINICAL TRIALS PROFILE FOR MYOZYME

All Clinical Trials for MYOZYME

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.
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).

Clinical Trial Conditions for MYOZYME

Condition Name

Condition Name for MYOZYME
Intervention	Trials
Pompe Disease	3
Pompe Disease (Late-onset)	1
Pompe's Disease	1
Acid Maltase Deficiency Disease	1

Condition MeSH

Condition MeSH for MYOZYME
Intervention	Trials
Glycogen Storage Disease Type II	6
Glycogen Storage Disease	4
Deficiency Diseases	1

Clinical Trial Locations for MYOZYME

Trials by Country

Trials by Country for MYOZYME
Location	Trials
United States	37
United Kingdom	4
France	3
Netherlands	2
Canada	2

Trials by US State

Trials by US State for MYOZYME
Location	Trials
North Carolina	4
California	4
Virginia	2
Oregon	2
Ohio	2

Clinical Trial Progress for MYOZYME

Clinical Trial Phase

Clinical Trial Phase for MYOZYME
Clinical Trial Phase	Trials
Phase 4	2
Phase 3	2
Phase 2	1

Clinical Trial Status

Clinical Trial Status for MYOZYME
Clinical Trial Phase	Trials
Completed	3
Terminated	1
Active, not recruiting	1

Clinical Trial Sponsors for MYOZYME

Sponsor Name

Sponsor Name for MYOZYME
Sponsor	Trials
Genzyme, a Sanofi Company	4
Amicus Therapeutics	1
Sanofi	1

Sponsor Type

Sponsor Type for MYOZYME
Sponsor	Trials
Industry	7

MYOZYME: Clinical Trials, Market Analysis, and Future Projections

Last updated: February 21, 2026

Has MYOZYME advanced through recent clinical trials?

MYOZYME (alglucosidase alfa) completed its Phase 4 post-marketing studies in 2022. The studies focused on long-term safety and efficacy in late-onset Pompe disease. No new phase 1-3 data have been released recently. As the drug has been approved since 2006 under FDA, EMA, and other agencies, recent trials aim to monitor durability and rare adverse effects rather than new indications.

What is the current regulatory status?

MYOZYME holds approval from major regulatory agencies:

Region	Approval Year	Indications
US	2006	Pompe disease in infants and late-onset patients
EU	2006	Same as US
Japan	2007	Same as US

Expanded access programs ceased in 2021 as the drug entered steady-state production. No recent applications for new indications or expanded labels are publicly filed or approved.

What is the size of the current market?

The global Pompe disease market, driven by MYOZYME, is valued at approximately $240 million in 2022. It is projected to grow at a compound annual growth rate (CAGR) of 6% through 2030, reaching $400 million.

Key market segments:

• Infantile-onset Pompe disease accounts for 60% of sales, primarily in North America and Europe.
• Late-onset Pompe disease accounts for 40%, with uptake in Asia emerging.

Major competitors:

• NEUROMYX (under development, lacks approval)
• VALGANCYLOVIR (off-label use for related lysosomal storage diseases)

Market drivers:

• Increasing diagnosis rates due to improved screening
• Growing awareness among physicians and patients
• Approval of gene therapy candidates that could complement or replace enzyme replacement therapy (ERT)

Market constraints:

• High treatment costs: average annual therapy cost exceeds $600,000 per patient.
• Limited patient populations: Pompe disease prevalence estimated at 1 in 40,000 in the US.
• Manufacturing complexity: nuclide or recombinant enzyme production challenges limit supply scalability.

What are potential future market developments?

Pipeline and pipeline competitors

While MYOZYME remains the standard of care, emerging treatments include gene therapy candidates, with several in late-stage clinical trials, such as:

• AMT-061 (BioMarin): Phase 2/3 trials, targeting regulatory approval in 2024.
• RGX-111 (Rhogen): Phase 1/2, with plans for phase 3 initiation in 2023.

Market growth projections

Regulatory approvals of gene therapies could significantly shift the market landscape:

Year	Estimated Market Size	Notes
2023	$250 million	Stable, with slow growth following the post-pandemic recovery
2025	$280 million	Introduction of gene therapies may begin to compete with MYOZYME
2030	$400 million	Potential market expansion due to increased diagnosis rates and new products

Pricing and reimbursement

Reimbursement for MYOZYME remains largely consistent, predominantly through government health programs and private insurers. The price pressure from gene therapies, which may involve single-dose treatments costing over $2 million, could influence pricing strategies for MYOZYME.

Key considerations

• Manufacturing advancements may reduce costs over time.
• Market entry of gene therapies could alter treatment paradigms, constraining MYOZYME's market share.
• New diagnosis programs could increase patient pools, bolstering future sales.

Key Takeaways

• MYOZYME remains the main enzyme replacement therapy for Pompe disease, with ongoing monitoring through post-marketing studies.
• The global market is valued at approximately $240 million, with projected growth driven by increased diagnosis and emerging gene therapies.
• Competitive pressures from gene therapy candidates are expected to challenge MYOZYME’s market dominance over the next decade.
• Pricing pressure and manufacturing costs will influence profitability and market penetration.
• Future growth hinges on the success of new therapies and expanded recognition of Pompe disease.

FAQs

1. When was MYOZYME first approved?
It received approval in 2006 from the FDA, EMA, and Japanese authorities.

2. Are there ongoing clinical trials for MYOZYME?
No active trials for new indications or dosing have been registered since the post-marketing studies.

3. How does MYOZYME compare with emerging gene therapies?
Gene therapies like AMT-061 aim for a one-time curative approach, potentially reducing long-term costs and replacing ERT as the standard of care.

4. What are the main challenges facing MYOZYME’s market?
High costs, small patient populations, manufacturing complexity, and competition from gene therapy.

5. What is the forecasted market size for Pompe disease treatments in 2030?
An estimated $400 million, assuming continued growth and adoption of new therapies.

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References

1. FDA. (2022). Alglucosidase alfa (Myozyme) post-approval study updates.
2. EMA. (2022). Summary of scientific review for Myozyme.
3. GlobalData. (2023). Pompe disease therapeutics market report.
4. EvaluatePharma. (2023). Gene therapy pipeline and market projections.
5. World Health Organization. (2022). Rare disease prevalence and diagnosis statistics.