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(Medical-NewsWire.com, February 29, 2016 ) Pompe disease is a type of lysergic acid diethylamide (LSD). LSD refers to a group of diseases arising from the increase of specific substrates and is inherited autosomal recessive disorders. Lysergic acid diethylamide is progressive and having uneven age of onset and clinical symptoms. Pompe disease is a hereditary and repeatedly incurable disorder caused by lack of acid alpha glucosidase, an enzyme desired to split down glycogen in particular structures of our body. Patients having pompe disease have little amount of or no acid alpha glucosidase enzyme activity, so break down of glycogen is not possible.
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Pompe disease is categorized into two broad categories as adult-onset pompe disease and infantile onset pompe disease. Both the parents pass on one strangely altered copy of the gene to their child. A parent with an altered copy of the gene is known as a carrier and the disease can affect both men and women irrespective of the gender. The disease is acquired by the individuals at the time of birth only, but the onset of indications differs significantly. The researchers have identified more than 300 genetic mutations that can cause pompe disease. Enzyme replacement therapy and diet therapy are useful in dropping the clinical demonstrations of the disease.
Pompe disease is an unusual condition and has an occurrence rate of approximately 1 patient in 38,000 and 1 child in 2,50,000 live births globally. If an infant catch the disease, which is caused by a deficiency of acid alpha-glucosidase enzyme, the survival rate of the infant is expected to be 26%.
Pompe disease treatment has a major role in terms of the limited number of treatment options available for late stages of pompe disease and also for early stage of pompe disease. Even though estrogen replacement therapy (ERT) is approved for the treatment of pompe disease, but still there are physician concerns about efficacy, safety and tolerability. The symptoms of pompe disease are unspecific and thus difficult to diagnose accurately.
The competition in the pompe disease market is mainly weak, and the market is served by the two estrogen replacement therapy drugs available in the market namely Myozyme for infants and Lumizyme for adults. Both the drugs are permitted for different subclasses of Pompe disease. Gene therapy for the treatment of pompe disease is presently under study; however, its advancement is in a preclinical stage. Dietary treatment for pompe disease has also been described and it is under study.
Government regulations, such as orphan drug exclusivity and limited patient population are the factors restraining the growth of the pompe disease market.
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Some of the competitors in the market are Genzyme Corporation, EpiVax, Inc., Amicus Therapeutics, Audentes Therapeutics, BioMarin Pharmaceutical Inc., Valerion Therapeutics, LLC, Oxyrane, and Sangamo BioSciences Inc.
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