Gaucher's disease

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Gaucher's disease

(gōshāz`), rare genetic disease involving a deficiency of an enzyme, glucocerebrosidase, which normally breaks down certain body glycolipids (i.e., lipidslipids,
a broad class of organic products found in living systems. Most are insoluble in water but soluble in nonpolar solvents. The definition excludes the mineral oils and other petroleum products obtained from fossil material.
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 (fats) that have a sugar molecule attached). There are three types of the disease. In all three types, the enzyme deficiency results in a buildup of the glycolipid glucocerebroside in the bone marrow, liver, and spleen, resulting in anemia and other blood disorders, bone pain and pathologic fractures, and enlarged liver and spleen. In Type II, the central nervous system is also affected. Patients are severely mentally retarded and have difficulty controlling their muscles. The disease progresses quickly from birth and usually is fatal by the age of two. In Type III disease, the course is chronic and central nervous system involvement begins later on. The symptoms are the same as those of Type II. Type I disease occurs most often in Ashkenazi Jews of Eastern European origin, Type III in people of Swedish origin.

There is no cure for Gaucher's disease, but in 1991 an enzyme replacement drug, Ceridase, was approved and allowed people with Type I disease (the most common) to live nearly normal lives. Ceridase was extracted from human placental tissue in very small amounts and the supply was limited. In 1994, a genetically engineered version of the drug (Cerezyme) was introduced. Both were developed as orphan drugs and were controversial because of their costliness.

Gaucher's disease

[gō′shāz di‚zēz]
(medicine)
A rare chronic, probably hereditary disease in which cells loaded with cerebrosides become localized in reticuloendothelial tissue and eventually cause tissue destruction; manifestations include enlargement of the spleen, bronzing of the skin, and anemia. Also known as cerebroside lipoidosis; familial splenic anemia.
References in periodicals archive ?
In ENGAGE, a Phase 3 trial to evaluate the safety and efficacy of eliglustat tartrate in 40 treatment-naove patients with Gaucher disease type 1, improvements were observed across all primary and secondary efficacy endpoints over the 9-month study period.
In the trial, 160 patients with Gaucher disease type 1 who had begun enzyme replacement therapy at least three years prior to randomization and who had reached therapeutic goals were randomized (2:1) to receive either eliglustat tartrate or Cerezyme for one year.
Annualized market data for the Gaucher Disease Type 1, Niemann Pick Type C, Fabry Disease, Pompe Disease and Mucopolysaccharidosis VI Disease in the neurometabolic disorders market from 2002 to 2010, with forecasts to 2017.
ENGAGE is a randomized, double-blind, placebo controlled study in treatment-naove patients with Gaucher disease type 1 and evaluated the efficacy, safety and pharmacokinetics of twice-daily dosing of eliglustat tartrate in 40 patients untreated for at least six months.
Staff Radiologist at Massachusetts General Hospital and Instructor in Radiology at Harvard Medical School, who is the central radiology reviewer for the phase 2 study, said, "These data suggest that eliglustat tartrate may have a meaningful clinical impact on bone disease in Gaucher disease type 1 patients.
The first trial, ENCORE, is a randomized, open-label study for adult patients with Gaucher disease type 1 designed to compare eliglustat tartrate to Cerezyme.
ENCORE is a randomized, open-label study for adult patients with Gaucher disease type 1 designed to compare Genz-112638 to Cerezyme[R] (imiglucerase for injection).
The company is now shipping Cerezyme only to two patient populations: patients with Gaucher disease type 1 who are 18 years of age or younger, and patients with Gaucher disease types 2 and 3.
NASDAQ: GENZ) today reported that the Phase 2 clinical trial of its investigational oral therapy Genz-112638 for Gaucher disease type 1 met its primary endpoint.