• Indicated for treatment of patients aged 1 year and older with late-onset Pompe disease. (medscape.com)
  • Indicated in combination with miglustat (Opfolda) for adults with late-onset Pompe disease (lysosomal acid alpha-glucosidase [GAA] deficiency) who weigh ≥40 kg and are not improving on their current enzyme replacement therapy (ERT). (medscape.com)
  • Late-onset Pompe disease (LOPD) is a rare genetic disorder produced by mutations in the GAA gene and is characterized by progressive muscle weakness. (nih.gov)
  • Late-onset Pompe disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. (medlineplus.gov)
  • Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. (medlineplus.gov)
  • Pombiliti (cipaglucosidase alfa) plus Opfolda (miglustat), a two-part therapy formerly known as AT-GAA, has been approved by the U.K.'s Medicines and Healthcare products Regulatory Agency (MHRA) as a treatment for adults with late-onset Pompe disease (LOPD). (pompediseasenews.com)
  • After more than a decade on Lumizyme (alglucosidase alfa), a teenager with late-onset Pompe disease (LOPD) developed an immune response against the therapy, which led to a worsening of disease symptoms. (pompediseasenews.com)
  • The enzyme stabilizer Opfolda (miglustat), one part of the two-component therapy formerly known as AT-GAA (cipaglucosidase alfa/miglustat), has been approved by the European Commission to treat adults with late-onset Pompe disease (LOPD). (pompediseasenews.com)
  • People with late-onset Pompe disease (LOPD) rarely have genetic variations in genes that are important for making glycogen in muscle cells, a new study suggests. (pompediseasenews.com)
  • The two-component therapy is indicated for adults living with late-onset Pompe disease. (pharmaceutical-technology.com)
  • Pombiliti treats adult patients with late-onset Pompe disease (LOPD) weighing 40kg or under who are not able to improve on their present enzyme replacement therapy (ERT). (pharmaceutical-technology.com)
  • Our highly experienced team is ready to launch this medicine in the US and we look forward to rapidly bringing this new treatment regimen to all eligible adults living with late-onset Pompe disease who are not improving on their current ERT. (pharmaceutical-technology.com)
  • This results in glycogen accumulation in tissues, especially muscles, and impairs their ability to function normally. (medscape.com)
  • Enzyme deficiency results in glycogen accumulation in tissues. (medscape.com)
  • Acid maltase deficiency is a unique glycogenosis in that the glycogen accumulation is lysosomal rather than in the cytoplasm. (medscape.com)
  • Pompe disease (PD) is caused by the deficiency of the lysosomal enzyme acid α-glucosidase (GAA), resulting in systemic pathological glycogen accumulation. (nih.gov)
  • LOPD muscle biopsies show accumulation of glycogen along with the autophagic vacuoles associated with atrophic muscle fibers. (nih.gov)
  • Lumizyme is a therapy to treat Pompe disease , a glycogen storage disease, which causes the accumulation of glycogen that damages muscle and nerve cells throughout the body. (labiotech.eu)
  • This enzymatic defect results in the accumulation of glycogen primarily in muscle tissues that leads to muscle weakness, loss of respiratory function, and often premature death. (businesswire.com)
  • Reduced or absent levels of GAA leads to accumulation of glycogen in cells, which is believed to result in the clinical manifestations of Pompe disease. (amda-pompe.org)
  • A method of treating a human patient with Pompe's disease, comprising intravenously administering biweekly to the patient a therapeutically effective amount of human acid alpha glucosidase, whereby the concentration of accumulated glycogen in the patient is reduced and/or further accumulation of glycogen is arrested. (patentdocs.org)
  • Pompe disease (glycogen storage disease type II) is an autosomal recessive disorder caused by deficiency of acid-alpha-glucosidase (GAA) resulting in lysosomal glycogen accumulation in multiple tissue, particularly cardiac and skeletal. (koreamed.org)
  • This enzyme replacement therapy (ERT) was developed by Sanofi Genzyme to overcome the lack of GAA enzyme that characterizes the disease, preventing the accumulation of glycogen in the body. (unitedpompe.com)
  • BACKGROUND: Pompe disease usually has muscle weakness due to glycogen accumulation. (bvsalud.org)
  • At the opportunity, the pathologist visualized glycogen accumulation in vesicles inside the cardiac fibers1. (bvsalud.org)
  • Pompe disease (type II glycogen storage disease) is an inherited enzyme defect that usually manifests in childhood. (medscape.com)
  • A glycogen storage disease (GSD) is the result of an enzyme defect. (medscape.com)
  • Although at least 14 unique GSDs are discussed in the literature, the 4 that cause clinically significant muscle weakness are Pompe disease (GSD type II, acid maltase deficiency ), Cori disease ( GSD type III , debranching enzyme deficiency), McArdle disease ( GSD type V , myophosphorylase deficiency), and Tarui disease ( GSD type VII , phosphofructokinase deficiency). (medscape.com)
  • These inherited enzyme defects usually manifest in childhood, although some, such as McArdle disease and Pompe disease, have separate adult-onset forms. (medscape.com)
  • Enzyme replacement therapies are available for all age groups (ie, infantile [early onset] or late onset [juvenile/adult]) affected by Pompe disease. (medscape.com)
  • Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening. (medscape.com)
  • Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. (medscape.com)
  • Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells. (medscape.com)
  • The FDA has approved the lysosomal glycogen-specific enzyme alglucosidase alfa ( Lumizyme ) for the treatment of infantile-onset Pompe disease, including in patients younger than age 8. (medscape.com)
  • A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells. (wikipedia.org)
  • When either form 'a' or 'b' are in the active state, then the enzyme converts glycogen into glucose-1-phosphate. (wikipedia.org)
  • Glycogen storage diseases (GSDs) are a group of inborn errors of metabolism, typically caused by enzyme defects, resulting in a buildup of glycogen in the liver, muscles, and other organs. (arupconsult.com)
  • MYOZYME ® (alglucosidase alfa) is a lysosomal glycogen-specific enzyme indicated for use in patients with Pompe disease (GAA deficiency). (nih.gov)
  • In infantile-onset Pompe disease there is a complete lack of GAA enzyme, or such a small amount that it is undetectable. (agsd.org.uk)
  • It is caused by mutations in a gene that makes an enzyme that breaks down glycogen, or stored sugar, in cells. (newstribune.com)
  • When that enzyme is reduced or eliminated, glycogen builds up dangerously throughout the body. (newstribune.com)
  • The biological replaces the missing acid α-glucosidase enzyme in Pompe patients to restore glycogen levels. (labiotech.eu)
  • Pompe disease is a progressive, debilitating and often fatal neuromuscular disease caused by a genetic deficiency or dysfunction of the lysosomal enzyme acid alpha-glucosidase (GAA). (businesswire.com)
  • Alglucosidase alfa, known as Lumizyme in the US and as Myozyme in the rest of the world, targets the underlying cause of Pompe disease by replacing the enzyme that is deficient. (businesswire.com)
  • In preclinical studies, AT-GAA was associated with increased tissue enzyme levels, reduced glycogen levels in muscle, and improvements in muscle strength. (amda-pompe.org)
  • Pompe disease is an inherited lysosomal storage disorder caused by deficiency of the enzyme acid alpha-glucosidase (GAA). (amda-pompe.org)
  • The claims at issue are directed to methods for treating Pompe's disease, a deficiency in the lysosomal enzyme acid α-glucosidase (GAA), which is expressed as an inability to break down glycogen, particularly in muscle, causing glycogen buildup in muscle tissue. (patentdocs.org)
  • Adding the enzyme stabilizer miglustat did not improve the effectiveness of Lumizyme (alglucosidase alfa) or Nexviazyme (avalglucosidase alfa) in a mouse model of Pompe disease, a new study reports. (pompediseasenews.com)
  • The switch to at-home infusions of enzyme replacement therapy (ERT) - made necessary due to the COVID-19 pandemic - had a positive effect on people with Pompe disease and their families, a new study has found. (pompediseasenews.com)
  • Further analysis confirmed he had low GAA enzyme activity, which was consistent with the suspected Pompe diagnosis. (unitedpompe.com)
  • Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. (medscape.com)
  • GSD type 0: Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs as type 0 because it is another defect of glycogen storage and can cause similar problems. (wikipedia.org)
  • GSD type XI (GSD 11): Fanconi-Bickel syndrome (GLUT2 deficiency), hepatorenal glycogenosis with renal Fanconi syndrome, no longer considered a glycogen storage disease, but a defect of glucose transport. (wikipedia.org)
  • Fukuda T, Roberts A, Plotz PH, Raben N. Acid alpha-glucosidase deficiency (Pompe disease). (medlineplus.gov)
  • Alglucosidase alfa is used to treat a glycogen storage disorder called Pompe disease, (also called GAA deficiency) in adults and children. (cigna.com)
  • In the US, Lumizyme is indicated for patients 8 years and older with late (non-infantile) onset Pompe disease (GAA deficiency) who do not have evidence of cardiac hypertrophy. (businesswire.com)
  • We are looking to speak to persons and caregivers of patients who suffer from different rare medical conditions, such as Acid sphingomyelinase deficiency (ASMD), Fabry disease, Gaucher disease, Pompe disease, Mucopolysaccharidoses 1 (MPS 1) and GM2 Gangliosidosis. (fieldscopeint.com)
  • Our commitment remains the same as it has always been since we initiated the development of our Pompe cell line-to deliver this potential new therapy to as many people living with Pompe disease as soon as possible. (amda-pompe.org)
  • If untreated, this form of Pompe disease leads to death from heart failure in the first year of life. (medlineplus.gov)
  • It has not been adequately studied for treatment of other forms of Pompe disease. (medscape.com)
  • MYOZYME has been shown to improve ventilator-free survival in patients with infantile-onset Pompe disease as compared to an untreated historical control, whereas use of MYOZYME in patients with other forms of Pompe disease has not been adequately studied to assure safety and efficacy. (nih.gov)
  • This might explain why these patients have a slowly progressive course of Pompe disease. (eur.nl)
  • Since the U.S. Food and Drug Administration approved it in 2006, Lumizyme has change the course of Pompe disease for many patients. (unitedpompe.com)
  • Supported by the significant improvements experienced by this infant severely affected by Pompe disease, the team suggests that a higher dose of Lumizyme "is a reasonable consideration to aid in recovery. (unitedpompe.com)
  • In the case report, " Pompe disease treatment with twice a week high dose alglucoside alfa in a patient with severe dilated cardiomyopathy , " a team at Medical College of Wisconsin presented the case of an infant with Pompe disease who they treated with double dose of Lumizyme - 40 mg per kilogram of body weight. (unitedpompe.com)
  • Replaces rhGAA, which is deficient or lacking in persons with Pompe disease. (medscape.com)
  • Some children with Pompe disease have dysfunctional motor neurons - the specialized nerve cells that control movement - in addition to muscle abnormalities, a new study highlights. (pompediseasenews.com)
  • to investigate nursing team knowledge and practices regarding care for children with Pompe disease in intensive care. (bvsalud.org)
  • As Postdoc she developed innovative in vivo AAV gene therapy approaches based on liver gene transfer or multi-tissue gene expression to target the multi-organ manifestations of Pompe disease, a LSD that presents with neuromuscular impairment. (stanford.edu)
  • Lumizyme is indicated for infantile-onset Pompe disease and also for late (non-infantile) Pompe disease. (medscape.com)
  • Approval was based on new data demonstrating similarities between Lumizyme and Myozyme , which is already approved for use in younger patients, and on a study of 18 patients with infantile-onset Pompe disease that showed similar improvements in ventilator-free survival as patients treated with Myozyme . (medscape.com)
  • Lumizyme (alglucosidase alfa) provides an exogenous source of GAA allowing conversion of glycogen to energy in heart and muscle cells. (geisinger.org)
  • CAMBRIDGE, Mass.--( BUSINESS WIRE )-- Genzyme Corp. (NASDAQ: GENZ) today announced that it will build an additional manufacturing plant in Geel, Belgium, to support the long-term growth of Myozyme ® and Lumizyme ® for Pompe disease. (businesswire.com)
  • approximately 1,400 Pompe patients are currently treated with either Myozyme or Lumizyme, which are the only treatments approved for the disease. (businesswire.com)
  • Treatment with Lumizyme ( alglucosidase alfa ) at double the approved dose may help prevent the rapid decline of respiratory and cardiovascular functions in infants with Pompe disease , a case report suggests. (unitedpompe.com)
  • Most patients experience muscle symptoms, such as weakness and cramps, although certain glycogen storage diseases manifest as specific syndromes, such as hypoglycemic seizures or cardiomegaly. (medscape.com)
  • See inborn errors of carbohydrate metabolism for a full list of inherited diseases that affect glycogen synthesis, glycogen breakdown, or glucose breakdown. (wikipedia.org)
  • Methods to diagnose glycogen storage diseases include history and physical examination for associated symptoms, blood tests for associated metabolic disturbances, and genetic testing for suspected mutations. (wikipedia.org)
  • Cell and gene therapies offer hope to millions of people living with genetic and some degenerative diseases like Parkinson´s and Pompe disease. (bayer.com)
  • The whole field of genetic storage diseases (thesaurismoses) except for a few glycogen storage conditions (nonlysosomal) was a complete mystery. (wolffund.org.il)
  • CRANBURY, N.J., Sept. 10, 2018-Amicus Therapeutics, a global biotechnology company focused on discovering, developing and delivering novel medicines for rare metabolic diseases, announced today regulatory and clinical advancements in its development program AT-GAA for Pompe disease. (amda-pompe.org)
  • Diagnosis of glycogen storage diseases is suspected by history, examination, and detection of glycogen and intermediate metabolites in tissues by MRI or biopsy. (msdmanuals.com)
  • Prognosis for and treatment of glycogen storage diseases vary by type, but treatment typically includes dietary supplementation with cornstarch to provide a sustained source of glucose for the hepatic forms of GSD and exercise avoidance for the muscle forms. (msdmanuals.com)
  • Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. (medlineplus.gov)
  • This buildup damages organs and tissues throughout the body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease. (medlineplus.gov)
  • For those like Erika living with Pompe disease, an excess buildup of glycogen in their body's cells degrades muscle growth. (bayer.com)
  • Additionally, when the amount of nutrients was lowered, less glycogen was stored in PBMCs. (concordia.ca)
  • G can have very low GAA activity in fibroblasts but express higher activity in muscle and store less glycogen in muscle than patients with classic-infantile Pompe disease. (eur.nl)
  • Myozyme has been shown to improve ventilator-free survival in patients with infantile-onset Pompe disease compared with untreated historical controls. (medscape.com)
  • Oropharyngeal dysphagia in infants and children with infantile Pompe disease. (medscape.com)
  • This approval eliminates previous restrictions on the drug's use to late (non-infantile) onset Pompe disease in patients 8 years of age and older. (medscape.com)
  • The classic form of infantile-onset Pompe disease begins within a few months of birth. (medlineplus.gov)
  • The non-classic form of infantile-onset Pompe disease usually appears by age 1. (medlineplus.gov)
  • The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood. (medlineplus.gov)
  • There is also some debate about whether a higher dose or a more frequent dose would improve life for a child with infantile-onset Pompe disease. (agsd.org.uk)
  • Children in the UK with infantile-onset Pompe disease now have their ERT infusion outside the hospital once they are discharged to their home. (agsd.org.uk)
  • Our children with infantile-onset Pompe disease in the UK have ERT at nursery, school and home. (agsd.org.uk)
  • Genzyme is also continuing its 160 L production in the U.S. for patients with infantile-onset Pompe disease. (businesswire.com)
  • Pompe disease ranges from a rapidly fatal infantile form with significant impacts to heart function to a more slowly progressive, late-onset form primarily affecting skeletal muscle. (amda-pompe.org)
  • In some adult patients, however, the fibroblast GAA activity is much lower and is in the range that is normally observed in classic-infantile Pompe disease. (eur.nl)
  • GAA activity and glycogen content in fibroblasts and muscle tissue in healthy controls, adult patients with Pompe disease and classic-infantile patients were compared with those of the three index patients. (eur.nl)
  • In all three cases the GAA activity and the glycogen content in fibroblasts were within the same range as in classic-infantile Pompe disease, but the activity and glycogen content in muscle were both within the adult range. (eur.nl)
  • A newborn screening program for Pompe disease in Minnesota was found effective for getting babies with infantile-onset disease started on early treatment, but challenges remain for those with late-onset disease (LOPD). (pompediseasenews.com)
  • A surgical technique called conjoint fascial sheath (CFS) suspension may help relieve drooping eyelids in children with infantile-onset Pompe disease (IOPD). (pompediseasenews.com)
  • Despite the effectiveness of this treatment regimen, about 50% of treated patients with infantile onset Pompe disease still require ventilator support by 3 years of age. (unitedpompe.com)
  • Based on his clinical presentation, the team at the hospital strongly suspected he had infantile onset Pompe disease. (unitedpompe.com)
  • Unknown glycogenosis related to dystrophy gene deletion: patient has a previously undescribed myopathy associated with both Becker muscular dystrophy and a glycogen storage disorder of unknown aetiology. (wikipedia.org)
  • Interestingly, a GSD type 0 also exists and is due to defective glycogen synthase. (medscape.com)
  • Polyglucosan storage myopathies are associated with defective glycogen metabolism (Not McArdle disease, same gene but different symptoms) Myophosphorylase-a activity impaired: Autosomal dominant mutation on PYGM gene. (wikipedia.org)
  • A French multicenter Phase 4 open label extension study of long -term safety and efficacy in patients with Pompe disease who previously participated in avalglucosidase development studies in France. (institut-myologie.org)
  • A cross-sectional single-centre study on Pompe disease in 42 German patients: Molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. (medscape.com)
  • Jonathan Rajan, MBChB , consultant in pain medicine and anesthesia from the Salford Royal Foundation Trust, discusses pain in patients with Pompe disease. (thedoctorschannel.com)
  • This investment ensures continued supply to our patients in the Pompe community for the long term. (businesswire.com)
  • Specifically, Amicus sought input on the design of a pivotal study for full approval for AT-GAA, other supplemental clinical studies in Pompe disease patients, and whether Amicus may pursue an Accelerated Approval pathway in the United States at this time. (amda-pompe.org)
  • Amicus has now received final written minutes from the Type C meeting, in which the FDA noted "the importance of expediting new treatments to Pompe patients as fast as possible. (amda-pompe.org)
  • The planned pivotal study, which will compare AT-GAA to the current standard of care, is expected to enroll approximately 100 total Pompe patients. (amda-pompe.org)
  • Amicus also intends to initiate studies in additional patient populations, including pediatric Pompe patients, in 2019. (amda-pompe.org)
  • We investigated the genotype-phenotype correlation in three such adult patients and measured the GAA activity as well as the glycogen content in muscle and fibroblasts in order to better understand the clinical course. (eur.nl)
  • The United Pompe Foundation was formed to assist patients and/or their families with medical costs and other expenses that these patients and families face and may not be able to cover, or fully cover, through their insurance. (unitedpompe.com)
  • METHODS: Eighteen patients with Pompe disease were enrolled. (bvsalud.org)
  • Individuals with the disease have both a glycolytic block as muscle glycogen cannot be broken down, as well as abnormal serum transferrin (loss of complete N-glycans). (wikipedia.org)
  • Babies who develop Pompe disease in the first year of life may need specialized medical tests to improve treatment with alglucosidase alfa treatment. (cigna.com)
  • Lafora disease is considered a complex neurodegenerative disease and also a glycogen metabolism disorder. (wikipedia.org)
  • Both parents carry a recessive gene for Pompe disease, which means there's a 1 in 4 chance that a baby will inherit the condition. (newstribune.com)
  • Miglustat alone has no pharmacological activity in cleaving glycogen. (medscape.com)
  • Amicus Therapeutics has received approval from the US Food and Drug Administration (FDA) for a two-component therapy, Pombiliti (cipaglucosidase alfa-atga) + Opfolda (miglustat) 65mg capsules, to treat Pompe disease. (pharmaceutical-technology.com)
  • the deficiencies may occur in the liver or muscles and cause hypoglycemia or deposition of abnormal amounts or types of glycogen (or its intermediate metabolites) in tissues. (msdmanuals.com)
  • Pompe disease in infants: improving the prognosis by newborn screening and early treatment. (medscape.com)
  • In Europe, Myozyme is indicated for infants, children and adults with Pompe disease. (businesswire.com)
  • Correction of glycogen storage disease type 1a in a mouse model by gene therapy. (medscape.com)
  • GAA gene transfer with adeno-associated virus (AAV) vectors has been shown to reduce glycogen storage and improve the PD phenotype in preclinical studies following different approaches. (nih.gov)
  • Mutations in the GAA gene cause Pompe disease. (medlineplus.gov)
  • Mutations in the GAA gene prevent acid alpha-glucosidase from breaking down glycogen effectively, which allows this sugar to build up to toxic levels in lysosomes. (medlineplus.gov)
  • Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. (medscape.com)
  • The toddler is the first child treated as fetus for Pompe disease, an inherited and fatal disorder in which the body fails to make some or all of a crucial protein. (newstribune.com)
  • Ayla Bashir, a 16-month-old from Ottawa, Ontario, is the first child treated as fetus for Pompe disease, an inherited and often fatal disorder in which the body fails to make some or all of a crucial protein. (newstribune.com)
  • It binds to mannose-6-phosphate receptors and then is transported into lysosomes, then undergoes proteolytic cleavage that results in increased enzymatic activity and ability to cleave glycogen. (medscape.com)
  • This aims to help the body process glycogen and reduce build-up in the lysosomes. (agsd.org.uk)
  • Genzyme believes that its Pompe disease treatments represent a commercial opportunity that is comparable to that of Cerezyme for Gaucher disease. (businesswire.com)
  • The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management. (medscape.com)
  • PBMC were found to contain glycogen by both methods. (concordia.ca)
  • Methods: DNA was sequenced and GAA activity and glycogen content were measured in leukocytes, fibroblasts and muscle. (eur.nl)
  • In Pompe disease, the concentration of a tetrasaccharide, consisting of four glucose residues, is reputedly increased in urine and plasma, but faster and more sensitive methods are required for the analysis of this, and other oligosaccharides, from biologic fluids. (uhi.ac.uk)
  • Ambrosino N, Confalonieri M, Crescimanno G, Vianello A, Vitacca M. The role of respiratory management of Pompe disease. (medscape.com)
  • John F. Crowley, Chairman and Chief Executive Officer of Amicus Therapeutics, Inc., stated, "We look forward to initiating the Pompe pivotal trial this year following collaborative discussions with regulators in the U.S. and the EU. (amda-pompe.org)