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.
The company is developing eliglustat tartrate, a capsule taken orally, to provide a convenient treatment alternative for patients with Gaucher disease type 1, and to provide a broader range of treatment options for patients and physicians to achieve individual therapeutic goals.
This six-month priority review designation was awarded by the Food and Drug Administration (FDA) for Cerdelga (eliglustat) for adult patients with Gaucher disease type 1.
According to Genzyme, it is developing eliglustat, a capsule to be taken twice daily, to provide an effective oral treatment alternative for adult patients with Gaucher disease type 1, and to provide a broader range of treatment options for Gaucher patients and physicians.
ENGAGE is reportedly a Phase 3 trial to evaluate the safety and efficacy of eliglustat tartrate in 40 treatment-naive patients with Gaucher disease type 1.
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 Phase III trial, ENCORE, is a randomised, open-label study for adult patients with Gaucher disease type 1, designed to compare eliglustat tartrate to Cerezyme.
Genzyme Corporation (NASDAQ: GENZ) announced today two-year follow-up data from patients enrolled in the phase 2 clinical trial for its investigational oral therapy for Gaucher disease type 1 known as eliglustat tartrate (formerly Genz-112638).
Genzyme Corporation (NASDAQ: GENZ) today announced that the company has begun enrollment in the first of two global, multi-center, phase 3 trials of Genz-112638, a potential new oral therapy for Gaucher disease type 1.
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.