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Latest Inborn errors of metabolism Stories

2010-08-30 08:00:00

NOVATO, Calif., Aug. 30 /PRNewswire-FirstCall/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced today that it has received orphan drug designation from the U.S. Food and Drug Administration (FDA) for BMN-701, a novel fusion of insulin-like growth factor 2 and alpha glucosidase (IGF2-GAA) in development for the treatment of Pompe disease. An investigational new drug application (IND) for BMN-701 has been submitted, investigational material has been manufactured and a Phase I/II...

2010-08-17 15:27:00

NOVATO, Calif., Aug. 17 /PRNewswire-FirstCall/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced today that it has acquired ZyStor Therapeutics, Inc. (ZyStor), a privately-held biotechnology company developing enzyme replacement therapies (ERT) for the treatment of lysosomal storage disorders. ZyStor's lead product candidate is ZC-701, a novel fusion of insulin-like growth factor 2 and alpha glucosidase (IGF2-GAA) in development for Pompe disease. Under the terms of the...

2010-08-05 15:00:00

CRANBURY, N.J., Aug. 5 /PRNewswire-FirstCall/ -- Amicus Therapeutics (Nasdaq: FOLD) today announced financial results for the quarter ended June 30, 2010, provided an update on its product development pipeline and reiterated guidance for timelines related to its Phase 3 program with Amigal (migalastat HCl) for the treatment of Fabry disease. John F. Crowley, Chairman and CEO of Amicus Therapeutics stated, "Our global Phase 3 program with Amigal for Fabry disease is our number one...

2010-06-16 23:25:17

University of Florida doctors among first in nation to administer newly available therapy for late-onset Pompe disease The first commercially available treatment in the United States for patients with late-onset Pompe disease was administered today (Wednesday, June 16) at the University of Florida. Pompe disease is a rare form of muscular dystrophy and has been the focus of a research program at UF for more than 10 years. It is now part of expanded efforts in neuromuscular disease research....

2010-06-15 15:42:37

The degradation of proteins and other macromolecules in cells is vital to survival. Disruption of this process can result in serious disease. The research group of Professor Thomas Jentsch (Leibniz Institute for Molecular Pharmacology, FMP/ Max Delbrck Center for Molecular Medicine, MDC, Berlin-Buch) has now succeeded in identifying an essential cellular process necessary for the transport and degradation of macromolecules in endosomes and lysosomes, respectively. In two studies published in...

2010-06-01 13:59:51

Commonalities between flies and humans make a valuable new model for galactosemia Galactosemia is a metabolic disease resulting from an inherited defect that prevents the proper metabolism of galactose, a sugar commonly found in dairy products, like milk. Exposure of affected people to galactose, can damage most of their organ systems and can be fatal. The ability to study the disease is limited by a lack of animal models. New information suggests that similarities between humans and flies...

2010-05-25 09:55:00

SILVER SPRING, Md., May 25 /PRNewswire-USNewswire/ -- The U.S. Food and Drug Administration approved Lumizyme (alglucosidase alfa) for patients ages 8 years and older with late-onset (non-infantile) Pompe disease, a rare genetic disorder. (Logo: http://www.newscom.com/cgi-bin/prnh/20090824/FDALOGO) Pompe disease occurs in an estimated 1 in every 40,000 to 300,000 births. Its primary symptom is heart and skeletal muscle weakness, progressing to respiratory weakness and death from...

2010-05-19 10:55:00

CAMBRIDGE, Massachusetts, May 19, 2010 /PRNewswire-FirstCall/ -- Shire plc (LSE: SHP, NASDAQ: SHPGY), the global specialty biopharmaceutical company, today announced that it has received the 2010 Partners in Progress Corporate Award from NORD. Shire was recognized for its efforts to accelerate the development of VPRIV(TM), a human cell line derived enzyme replacement therapy (ERT) for the treatment of Type 1 Gaucher disease, and provide the therapy to patients ahead of commercial approval...

2010-05-10 07:44:28

The new findings may inspire clinical trials In findings that advance scientists' understanding of a whole class of inherited disorders, a team from The Scripps Research Institute has shed light on a mechanism that enables a potential treatment for Gaucher's disease and other lysosomal storage diseases. The findings were published in an advance, online edition of the journal Nature Chemical Biology on May 9, 2010. "This study is likely to motivate clinical trials for the treatment of...

2010-05-06 15:00:00

CRANBURY, N.J., May 6 /PRNewswire-FirstCall/ -- Amicus Therapeutics (Nasdaq: FOLD) today announced financial results for the quarter ended March 31, 2010 and reviewed the progress on its product development pipeline including an update that the Company does not plan to advance AT2220, its investigational drug AT2220 (1-deoxynojirimycin HCl) for the treatment of Pompe disease, as a monotherapy at this time. First Quarter Highlights: Amicus presented positive data from its Phase 2...


Word of the Day
jument
  • A beast of burden; also, a beast in general.
'Jument' ultimately comes from the Latin 'jugum,' yoke.
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