About Gaucher Disease
Gaucher disease is a genetic disorder which is related to metabolism. In this disorder, body fails to make or not make enough glucocerebrosidase, it is a type of enzyme which is necessary to breakdown and recycle a type of fat i.e.,Glucocerebroside. Thiscauseto build up layers of glucocerebroside in liver, bone marrow, spleen and nervous system. These layers interrupt the normal working of these organs.
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Gaucher disease is inherited. There are approximately 6000 individuals with gaucher disease in United States, men and women in equal number.The therapies for this disease are available in market. Thesales of therapeutics for gaucher disease were about $875 million in 2014. It is expected that, the sales will rise to $1.16 billion by 2022 across the 7 major markets of UK, US, Italy, Israel, Germany, Spain and France, at the compound annual growth rate of 2.9%. So the North America Gaucher disease market is expected to grow on steady rate of 2.9%. Interestingly, the country which will experience highest growth is Israel with compound annual growth rate of 8.4%. This growth will be driven by increase in rate of diagnostic rate due to high level of disease awareness in Israel.
Signs and symptoms
Gaucher disease is classified into three types, according to the absence, presence and extent of the neurological involvement.
- Type 1-Nonneuronopathic Gaucher disease
- Type 2- Acute nonneuronopathic Gaucher disease
- Type3- Chronic nonneuronopathic Gaucher disease
Type 1 is most common and least severe case of gaucher disease. In this symptoms like anemia, enlarged liver or spleen are common. Skeletal weakness and bone diseases may be extensive. The brain and nervous system are not affected, but lung and kidney impairment may occur.
Type 2 Symptoms begin with 6 months within birth which includes enlarged liver and spleen, poor ability to suck and swallow extensive and progressive brain damage and eye movement disorders. Usually children with this disease die within age of 2.
Type 3 symptoms may start any time during childhood or adulthood. It is slowly progressive but milder as compare to type 2. The symptoms include skeletal irregularities, poor coordination, enlarged liver and spleen, eye movement disorder and anemia.
The diagnosis isconfirmed through DNA analysis and enzyme testing in laboratory.
The treatments available for type1 and type3 are –
- Enzyme Replacement Therapy(ERT)
- Substrate Reduction Therapy(SRT)
Enzyme Replacement Therapy balances the low levels of glucocerebrosidase enzyme with modified version of normal human enzyme. This helps to breakdown the fat accumulated near organs.
Substrate Reduction Therapy works differently than Enzyme Replacement Therapy. Instead of balancing the low level of glucocerebrosidase enzyme, it reduces the glucocerebroside in the body. This reduces the work of body’s enzyme to break and degrade fat i.e. glucocerebroside. SRT is oral medications.
According to the National Gaucher foundation from United States, the incidence of gaucher disease is about one in 20,000 live births.