Gaucher disease is recessive gene dominance disorder with massive clinical heterogeneity. Symptoms of the disease include painless splenomegaly, anemia, or thrombocytopenia, chronic fatigue, hepatomegaly, bone pain, and pathologic fractures. The disease also contributes to easy incidence of bruising and bleeding through the nose. Manifested in three sub-types, the disease results from the deficiency of the enzyme glucocerebrosidase.
It is the most common lysosomal storage disorder and has an incidence of approximately 1 for every 50,000 live births. The most severe form of the disease is the perinatal lethal form. Gaucher disease is said to exhibit the highest manifestation in Jewish population of Eastern and Central European region, affecting 1 out of every 450 people and the number of disease carriers is 1 out of every 10 within the descent. Increasing medical advancement in research and development for rare disorders is leading to rising awareness and could eventually lead to a cure for such rare disorders.
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In past, recombinant enzyme imiglucerase was used in most patients. The treatment was effective in retrograding the visceral and hematologic symptoms of Gaucher disease. However, slow responses of the skeletal disease and pulmonary involvement is comparatively resistant to the enzyme. Treatment for Gaucher disease is typically given in high dose once a week, but, in some cases, medium dose of medicine is given every week or three times in low dose quantity. Significant responses have been observed in all type of dose regimens.
The lack of drugs in last stage of development is anticipated to limit the expansion of the Gaucher disease market, although the rise in number of patient globally tend to favor the growth of Gaucher disease treatment in the market over the forecast period.
Furthermore, ERT is suggested for patients with type 1 Gaucher disease exhibiting the sign and symptoms such as anemia, thrombocytopenia and bone disorder. However, sternness and progression rate of disease varies, mainly in adults, which complicates the treatment decision for the medical specialist.
Enzyme replacement therapy has widely improved the quality of life for the patients. Companies involved in producing the enzyme has also gained traction in the profit margins. As a result, the major players in this industries are strictly working for the development of the latest drug therapy for the patients suffering from Gaucher disease.
Since, the population suffering from Gaucher disease is comparatively less than other fatal diseases, the treatment is costlier and development is slow. Unfortunately, it has been anticipated that in spite of improvements in diagnosis and treatment, major chunk of population having Gaucher disease may not be treated over the forecast period, due to late or misdiagnosis of the Gaucher disease, which will further affect the market.
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Increased focus on formation of research consortiums on rare diseases is leading to rising disease awareness levels and increased reporting of such diseases too. Furthermore, rising affordability for access to essential healthcare services is contributing largely to disease testing and identification at early stages. Availability of symptomatic control options and validation of the same in international consortiums and federations has been leading to greater availability of symptom control options.
Barriers include lack of companies researching on cures due to profitability issues of targeted therapy. Lack of awareness among physicians also contributes largely towards no treatments or wrong treatments. Also professional counselling is one of the most effective mediums of disease management, stigmatization of patient leads to psychological issues thus leading to absence of proper treatments.
On the basis of region presence, Gaucher disease treatment market is segmented into five key regions: North America, Latin America, Europe, Asia Pacific, and Middle East & Africa. Presently, North America dominates the global market for Gaucher disease treatment market due to high diagnose rate and large number of facilities for enzyme replacement therapy.
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However, growth in Middle East and African region is expected to take exponential growth in terms of CAGR over the forecast period. Rising number of people with bone disorder is expected to fuel the Gaucher disease treatment market. The U.S. Gaucher disease treatment market is expected to dominate in terms of market share with major share among all the regions.
Some of the major market players in Gaucher disease treatment market globally includes, Abbott , Aptalis Pharma , Genzyme Corporation, GlaxoSmithKline (GSK), Pfizer Inc., Shire Human Genetic Therapies, Inc., Eli Lilly and Company, Enobia Pharma Inc., Anthera Pharmaceuticals, Inc., BioMarin Pharmaceutical Inc., MedPro Rx, Zymenex A/S, Merck Serono.
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