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Amicus Therapeutics Presents Preclinical Data From Studies Of Plicera(TM) For Gaucher Disease
Amicus Therapeutics, a
biopharmaceutical company developing small molecule, orally-administered
pharmacological chaperones for the treatment of a range of human genetic
diseases, announced today that it will present the results of preclinical
studies of Plicera(TM) (isofagomine tartrate, AT2101) for Gaucher disease
at the American College of Medical Genetics (ACMG) annual meeting March
21-25 in Nashville, TN. The data demonstrate the ability of Plicera to
increase levels of the target enzyme in cells derived from a patient with
the N370S mutation and in mice that express the L444P mutation. The N370S
and the L444P are the two most common mutations associated with Gaucher
disease. Additional data from both studies will also be presented.
Plicera is designed to selectively bind to and stabilize GCase, the
enzyme deficient in Gaucher disease. This deficiency leads to lysosomal
accumulation of glucocerebroside inside certain cells, which is believed to
cause the various symptoms of Gaucher disease. Plicera facilitates proper
trafficking of the enzyme to the lysosomes, the compartments in the cell
where it is needed to break down glucocerebroside.
The following is a summary of the preclinical Plicera data being
presented at ACMG.
- In vitro exposure to Plicera increased transport of GCase to the
lysosomes in cells derived from a patient with the N370S mutation.
Once in the lysosome, the enzyme was stable and active for more than 3
days after Plicera was removed. The N370S is the most common mutation
associated with Gaucher disease in the Western world. These studies
were published in the September 12, 2006 issue of the Proceedings of the
National Academy of Sciences (PNAS).
- Oral administration of Plicera resulted in a dose-dependent increase of
GCase levels in various tissues, including the brain, in mice
genetically modified to produce the L444P form of the enzyme. In
addition, liver and spleen weights were decreased as were plasma levels
of chitin III and IgG, which are biomarkers related to Gaucher disease.
The L444P is one of the most common mutations associated with Gaucher
disease. Gaucher patients with two copies of this mutation typically
have neurological symptoms in addition to the visceral symptoms seen in
Type I Gaucher disease.
About Gaucher Disease
Gaucher disease, the most commonly diagnosed lysosomal storage
disorder, is caused by inherited genetic mutations in the GBA gene, which
result in deficient activity of the enzyme acid beta-glucosidase, also
known as glucocerebrosidase (GCase). Deficient GCase activity leads to
lysosomal accumulation of glucocerebroside inside certain cells, which is
believed to cause the various symptoms of Gaucher disease, including an
enlarged liver and spleen, abnormally low levels of red blood cells and
platelets and skeletal complications. In some cases there is significant
impairment of the central nervous system. Gaucher disease affects an
estimated 8,000 to 10,000 people worldwide. The U.S. Food and Drug
Administration's Office of Orphan Products Development has granted orphan
drug designation for the active ingredient in Plicera in the United States.
About Amicus Therapeutics
Amicus Therapeutics is a biopharmaceutical company developing novel,
oral therapeutics known as pharmacological chaperones for the treatment of
a range of human genetic diseases. Pharmacological chaperone technology
involves the use of small molecules that selectively bind to and stabilize
proteins in cells, leading to improved protein folding and trafficking, and
increased activity. Amicus is initially targeting lysosomal storage
disorders, which are severe, chronic genetic diseases with unmet medical
needs. Amicus is currently conducting Phase 2 clinical trials for its two
lead compounds, Amigal(TM) for Fabry disease, and Plicera(TM) for Gaucher
disease. The company is currently conducting Phase 1 trials with AT2220 for
the treatment of Pompe disease.
Amicus Therapeutics
http://www.amicustherapeutics.com/
Amicus therapeutics prezinta Datele preclinice din studii de Plicera (tm) pentru Boala Gaucher - Amicus Therapeutics Presents Preclinical Data From Studies Of Plicera(TM) For Gaucher Disease - articole medicale engleza - startsanatate