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.

1. Pompe Disease Market - Global
Industry Analysis, Size, Share, Growth,
Trends and Forecast 2016 - 2024
Transparency Market Research Reports incorporated a definite
business overview and investigation inclines on "Pompe Disease
Market". This report likewise incorporates more illumination
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requisitions and worldwide business sector industry structure.
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. 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,

2. with the marked involvement of the cardiac, smooth, and
skeletal muscle.
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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.

3. 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.
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

4. 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.
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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