Pompe disease is a rare, progressive, autosomal recessively inherited metabolic disorder, and is often a fatal muscular disease that affects one of the lysosomal enzymes. Pompe disease can also be called as a glycogen storage disease or acid alpha-glycosidase deficiency or GAA deficiency. It mainly occurs due to accumulation of glycogen in some tissues and organs, particularly muscles, leading to abnormal functioning.
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The inability of breaking the lysosomal glycogen lies in the mutation of a gene responsible for production of the enzyme acid alpha-glycosidase. This enzyme breaks glycogen into simpler form i.e. glucose but a mutation in the GAA gene prevents this activity. The stoppage of glycogen breakdown causes massive cellular dysfunction, with the marked involvement of the cardiac, smooth, and skeletal muscle.
Pompes disease is categorized on the basis of disease severity, disease progression and age, such as infantile-onset, non-classic infantile-onset and late onset. Within few months of birth, the infantile onset of Pompes disease starts showing its symptoms such as enlarged liver(hepatomegaly),muscle weakness(myopathy), heart defect, and poor muscle tone (hypotony).The infants affected with this disease face challenges of weight gain as well as hampered growth and breathing problems. The affected infant may have large protruding tongue. If untreated, the infant may die of heart failure in the first year of life itself. Non-Classic infantile-onset is usually seen at the age of 1 year. The disease symptoms include poor motor skills and a delayed muscle progress .They may show signs of hearing impairment and abnormally large heart. The muscle weakness may seriously lead to breathing problems. The Late-onset marks its symptoms by later stages of childhood, adolescent age or in adulthood. This form of late onset is a bit milder than the previous ones and doesn’t involve heart. The muscle weakness is generally observed in the legs, trunk and breathing muscles. The progress of the disorder in the muscles controlling breathing will ultimately lead to the respiratory failure.
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Pompes disease can occur in various age groups and population across the world. The occurrence of the disease is 1 in 40,000 births in the U.S. In many cases, the people suffering from Pompes Disease in late onset of the disease remain undiagnosed. The symptoms of Pompes Disease are observed due to the complete or partial deficiency of the GAA enzyme. Diagnosis of Pompe disease can be performed by GAA activity assay. Following are the tests for the detection of Pompe disease:
- Sequencing of the GAA gene
- GAA activity assay in blood, cultured amniocytes, chorionic villi and cultured skin fibroblasts.
- The marker, urinary hexose tetrasaccharide can be used to keep a track of patients suffering from Pompe disease
- Cross Reactive Immunological Material (CRIM) analysis
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Pompe disease can be treated by symptomatic, supportive and disease-specific ways. As the disease involves impairment of cardiac, respiratory and muscular systems, the treatment necessitates requirement of specialists with expertise in all these disorders. Cardiologists, dieticians, pediatricians, orthopedists may need to co-ordinate and design a well collaborated treatment plan for the patient. The US Food and Drug Administration has approved an enzyme replacement therapy- Myozyme® for the infantile onset of Pompe disease suffering patients of less than 8 years old. Whereas Lumizyme® is used for patients older than 8 years of age. The genetically engineered human GAA enzyme is administered intravenously every two weeks.
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Increasing developments in the gene therapy and enzyme replacement therapies are driving factors for the growth of Pompe disease market. However, affordability of the expensive therapy treatments may pose a potential threat to these markets in developing markets. Major market players in the field of Pompe Disease therapeutics are Genzyme, BioMarin Pharmaceutical, and Amicus Therapeutics.There are some key vendors like Audentes Therapeutics, EpiVax, Oxyrane, Sangamo BioSciences, and Valerion Therapeutics.
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