human GAA protein (Myozyme)

Defects in the gene for this protein cause glycogen storage disease II, also known as Pompe disease, RefSeq NM_000152

Also Known As:

Myozyme; alglucosidase alfa; GAA protein, human; LYAG protein, human; Nexviazyme; acid alpha-glucosidase, human; acid maltase, human; avlglucosidase alfa; glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II), human; lysosomal alpha-glucosidase, human; recombinant human acid alpha-glucosidase; rhGAA

Networked: 225 relevant articles (53 outcomes, 41 trials/studies)

Relationship Network

Drug Context: Research Results

Enzymes and Coenzymes: 1
- Enzymes: 155591
  - Hydrolases: 2206
    - Glycoside Hydrolases: 890
      - Glucosidases: 1814
        alpha-Glucosidases: 1012
        human GAA protein: 225

Experts

1.	Kishnani, Priya S: 59 articles (01/2024 - 08/2005)
2.	van der Ploeg, Ans T: 15 articles (09/2023 - 04/2010)
3.	Schoser, Benedikt: 13 articles (12/2023 - 10/2008)
4.	Thurberg, Beth L: 11 articles (01/2019 - 11/2004)
5.	Rosenberg, Amy S: 10 articles (01/2023 - 08/2011)
6.	Case, Laura E: 9 articles (01/2024 - 05/2007)
7.	Desai, Ankit K: 9 articles (01/2024 - 08/2017)
8.	Chien, Yin-Hsiu: 9 articles (12/2023 - 09/2007)
9.	Young, Sarah P: 9 articles (01/2020 - 08/2005)
10.	Bali, Deeksha: 9 articles (07/2019 - 12/2008)

Related Diseases

1.	Glycogen Storage Disease Type II (Pompe's Disease) 10/01/2018 - "Most Pompe disease patients were clinically stable/improved after transitioning to 4,000 L rhGAA. " 12/06/2023 - "Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry." 08/01/2005 - "These results suggest that urinary Glc4 and plasma Hex4 could serve as a valuable adjunct to clinical endpoints for monitoring the efficacy of therapeutic interventions such as rhGAA ERT in Pompe disease." 01/01/2024 - "In the COMET trial of patients with late-onset Pompe disease, greater improvement in upright forced vital capacity (FVC) % predicted was observed with avalglucosidase alfa (AVA) vs alglucosidase alfa (ALGLU) (estimated treatment difference: 2.43%). " 08/01/2022 - "Greater Efficacy of Avalglucosidase vs Alglucosidase Alfa in Adult Pompe Disease? "
2.	Cardiomyopathies (Cardiomyopathy) 11/20/2017 - "Long-term alglucosidase alfa treatment markedly extended survival as well as ventilation-free survival and improved cardiomyopathy (low-quality evidence). " 10/01/2018 - "In 2010, larger-scale rhGAA was approved for patients up to 8 years old without cardiomyopathy. " 10/28/2014 - "Enzyme replacement therapy using recombinant human GAA (rhGAA) has proven beneficial in addressing several aspects of the disease such as cardiomyopathy and aberrant motor function. " 08/01/2011 - "Enzyme replacement therapy with rhGAA (Myozyme®) has lead to improved survival, which is largely attributable to improvements in cardiomyopathy and skeletal muscle function. " 01/01/2005 - "Both clinical data and the results of preclinical studies in our knockout model of this disease show that rhGAA is much more effective in resolving the cardiomyopathy than the skeletal muscle myopathy. "
3.	Muscular Diseases (Myopathy) 01/01/2005 - "Both clinical data and the results of preclinical studies in our knockout model of this disease show that rhGAA is much more effective in resolving the cardiomyopathy than the skeletal muscle myopathy. " 09/01/2011 - "Pompe disease (PD) is a progressive metabolic myopathy for which the only available treatment is alglucosidase alfa (Myozyme®). " 06/01/2017 - "Early initiation of enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase is an effective treatment for patients with infantile-onset Pompe disease (IOPD) but cannot prevent a slow progression of myopathy. " 09/01/2023 - "Enzyme replacement therapy (ERT) with alglucosidase alfa is the treatment for patients with Pompe disease, a hereditary metabolic myopathy. " 09/01/2022 - "The emergence of enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rhGAA) has improved the natural course of IOPD with a significant impact on cardiomyopathy but has a more limited effect on the progression of myopathy and consequently the later deterioration of the disease. "
4.	Anaphylaxis (Anaphylactic Shock) 01/01/2023 - "Anaphylaxis with rhGAA is not rare and RDD with rhGAA is safe and effective in the long term." 01/01/2023 - "Four (30.8%) patients developed moderate to severe anaphylaxis, and RDD was applied with rhGAA. " 01/01/2023 - "All children diagnosed and followed up in our institution with PD over 12 years between January 2009 and September 2021 were evaluated for development of anaphylaxis and RDD with rhGAA from medical records. " 01/01/2023 - "We aimed to evaluate the development of anaphylaxis and rapid drug desensitization (RDD) with rhGAA in children with PD. " 01/01/2023 - "Anaphylaxis can develop with rhGAA. "
5.	Fatigue 12/12/2023 - "Cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo (125 participants) Compared to alglucosidase alfa plus placebo, cipaglucosidase alfa plus miglustat may make little or no difference to: 6MWT distance at 52 weeks (MD 13.60 metres, 95% CI -2.26 to 29.46); infusion reactions (RR 0.94, 95% CI 0.49 to 1.80); quality of life scores for physical function (MD 1.70, 95% CI -2.13 to 5.53) and fatigue (MD -0.30, 95% CI -2.76 to 2.16); and adverse effects potentially related to treatment (RR 0.83, 95% CI 0.49 to 1.40) (all low-certainty evidence). " 12/12/2023 - "Cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo (125 participants) Compared to alglucosidase alfa plus placebo, cipaglucosidase alfa plus miglustat may make little or no difference to: 6MWT distance at 52 weeks (MD 13.60 metres, 95% CI -2.26 to 29.46); infusion reactions (RR 0.94, 95% CI 0.49 to 1.80); quality of life scores for physical function (MD 1.70, 95% CI -2.13 to 5.53) and fatigue (MD -0.30, 95% CI -2.76 to 2.16); and adverse effects potentially related to treatment (RR 0.83, 95% CI 0.49 to 1.40) (all low-certainty evidence). " 02/01/2024 - "Patients who received avalglucosidase alfa had significantly greater odds of achieving a meaningful change versus alglucosidase alfa for the PDSS Shortness of Breath (OR [95% CI] 11.79 [2.24; 62.18]), Fatigue/Pain (6.24 [1.20; 32.54]), Morning Headache (13.98 [1.71; 114.18]), and Overall Fatigue (5.88 [1.37; 25.11]) domains, and were significantly more likely to meet meaningful change thresholds across multiple PDSS domains (all nominal p < 0.05). "

Related Drugs and Biologics

1.	human GAA protein (Myozyme)
2.	alpha-Glucosidases (Acid Maltase)
3.	Acids
4.	Enzymes
5.	Glucosidases
6.	Antibodies
7.	Glycogen
8.	miglustat (Zavesca)
9.	Ligands
10.	Antioxidants

Related Therapies and Procedures

1.	Enzyme Replacement Therapy
2.	Mechanical Ventilators (Ventilator)
3.	Therapeutics
4.	Enzyme Therapy
5.	Immunomodulation