Treatment
For those with type-I and most type-III, enzyme replacement treatment with intravenous recombinant glucocerebrosidase can decrease liver and spleen size, reduce skeletal abnormalities, and reverse other manifestations. This treatment costs about US$200,000 annually for a single person and should be continued for life. The rarity of the disease means dose-finding studies have been difficult to conduct, so controversy remains over the optimal dose and dosing frequency. Due to the low incidence, this has become an orphan drug in many countries, meaning a government recognizes and accommodates the financial constraints that limit research into drugs that address a small population.The first drug for Gauchers was alglucerase (Ceredase), which was a version of glucocerebrosidase that was harvested from human placental tissue and then modified with enzymes. It was approved by the FDA in 1991 and has been withdrawn from the market due to the approval of similar drugs made with recombinant DNA technology instead of being harvested from tissue; drugs made recombinantly are preferable, since there is no concern about diseases being transmitted from the tissue used in harvesting, there are fewer risks of variations in enzyme structure from batch to batch, and they are less expensive to manufacture.Available recombinant glucocerebrosidases are:
Imiglucerase (approved in 1995)
Velaglucerase (approved in 2010)
Taliglucerase alfa (Elelyso) (approved in 2012)Miglustat is a small molecule, orally available drug that was first approved for Gauchers Disease in Europe in 2002. It works by preventing the formation of glucocerebroside, the substance that builds up and causes harm in Gauchers.
This approach is called substrate reduction therapy.Eliglustat (Cerdelga) (approved in 2014)  is also a small molecule. The compound is believed to work by inhibition of glucosylceramide synthase. Epidemiology
The National Gaucher Foundation (United States) states the incidence of Gauchers disease is about one in 20,000 live births. Around one in 100 people in the general US population is a carrier for type I Gauchers disease, giving a prevalence of one in 40,000. Among Ashkenazi Jews, the rate of carriers is considerably higher, at roughly one in 15.Type II Gauchers disease shows no particular preference for any ethnic group.Type III Gauchers disease is especially common in the population of the northern Swedish region of Norrbotten, where the incidence of the disease is one in 50,000. History
The disease was first recognized by the French doctor Philippe Gaucher, who originally described it in 1882 and lent his name to the condition. In 1902, its mode of inheritance was discovered by Nathan Brill. The neuronal damage associated with the disease was discovered in the 1920s, and the biochemical basis for the disease was elucidated in the 1960s by Roscoe Brady. The first effective treatment for the disease, the drug alglucerase (Ceredase), was approved by the FDA in April 1991. An improved drug, imiglucerase (Cerezyme), was approved by the FDA in May 1994 and has replaced the use of Ceredase. October is National Gauchers Disease Awareness Month in the United States.