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Latest Inborn errors of metabolism Stories

2011-02-09 06:00:00

CRANBURY, N.J., Feb. 9, 2011 /PRNewswire/ -- Amicus Therapeutics (Nasdaq: FOLD) today announced the dosing of the first subject in a Phase 2 clinical trial designed to evaluate the co-administration of its investigational drug Amigal(TM) (migalastat hydrochloride) with enzyme replacement therapy (ERT) for Fabry disease. This open-label Phase 2 study is investigating drug-drug interactions between Amigal and the ERTs Fabrazyme® and Replagal®....

2011-02-01 08:00:00

NOVATO, Calif., Feb. 1, 2011 /PRNewswire/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced today that it has initiated a pivotal Phase 3 trial for N-acetylgalactosamine 6-sulfatase (GALNS or BMN 110), intended for the treatment of the lysosomal storage disorder Mucopolysaccharidosis Type IVA (MPS IVA), also called Morquio A Syndrome. "In under two years, we have progressed the GALNS program from Clinical Trial Application to initiation of the Phase 3 trial. We have received...

2011-01-19 08:00:00

NOVATO, Calif., Jan. 19, 2011 /PRNewswire/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced today that it has initiated a Phase 1/2 trial for BMN 701, a novel fusion protein of insulin-like growth factor 2 and acid alpha glucosidase (IGF2-GAA) in development for the treatment of Pompe disease. "We have a strong track record of quickly developing enzyme replacement therapies for unmet medical needs and expect to leverage our clinical and regulatory experience and manufacturing...

2011-01-11 07:00:00

CRANBURY, N.J., Jan. 11, 2011 /PRNewswire/ -- Amicus Therapeutics (Nasdaq: FOLD) today will provide the Company's business outlook and expected key milestones for 2011 at the 29th Annual J.P. Morgan Healthcare Conference. At the conference, Amicus is providing an update on its three key areas of focus: Amigal (migalastat hydrochloride) for the treatment of Fabry Disease, the evaluation of pharmacological chaperones co-administered with ERT, and the investigation of pharmacological...

2010-12-29 07:46:00

(Ivanhoe Newswire) "“ Researchers believe that newborn screening and early treatment for a rare genetic disorder, mucopolysaccharidosis type I (MPS I), is needed so that enzyme replacement therapy can begin at birth and eliminate all the symptoms associated with MPS I. MPS I is an inherited genetic disorder that affects many body systems. It is caused by a defect in the gene that makes an enzyme called alpha-L-iduronidase. Because of this defect, cells either produce the enzyme in low...

2010-12-02 23:38:38

A new study offers hope for children born with a rare genetic disease, according to a paper published by the American Association for the Advancement of Science. The research was led by Dr. Matthew Ellinwood, a veterinarian and animal science professor at Iowa State University, in collaboration with Dr. Patricia Dickson at the Harbor-UCLA Medical Center, with colleagues at the Iowa State College of Veterinary Medicine, the University of Tennessee, St. Louis University and the University of...

2010-12-02 00:52:40

In a study that supports the need for newborn screening and early treatment for a rare genetic disorder, researchers at Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center (LA BioMed) and Iowa State University found enzyme replacement therapy beginning at birth eliminated almost all of the symptoms associated with mucopolysaccharidosis type I, or MPS I, in animal models. The study, which was published today in the journal, Science Translational Medicine, is the first to...

2010-11-29 06:26:00

SHENYANG, China, Nov. 29, 2010 /PRNewswire-Asia-FirstCall/ -- 3SBio Inc. (Nasdaq: SSRX) ("3SBio" or "Company"), a leading China-based biotechnology company focused on researching, developing, manufacturing and marketing biopharmaceutical products, today announced that is has acquired worldwide rights of pegsiticase for all indications from EnzymeRx for a total consideration of US$6.25 million. Pegsiticase (Uricase-PEG 20) is a pegylated recombinant uricase derived from Candida utilis,...

2010-10-26 07:00:00

SOUTH PLAINFIELD, N.J., Oct. 26 /PRNewswire/ -- PTC Therapeutics, Inc. today announced that it is expanding the development of ataluren, an investigational new drug, with the initiation of a Phase 2 clinical trial in nonsense mutation methylmalonic acidemia (nmMMA). MMA is a rare genetic disorder caused by deficiencies of crucial metabolic enzymes. Lack of these enzymes causes toxic levels of methylmalonic acid to accumulate in body fluids resulting in life-threatening metabolic...

2010-09-01 08:00:00

NOVATO, Calif., Sept. 1 /PRNewswire-FirstCall/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced today that results from investigator-sponsored studies on Kuvan (sapropterin dihydrochloride) are being presented at the 2010 Annual Symposium of the Society for The Study of Inborn Errors of Metabolism (SSIEM), August 31st-September 3rd in Istanbul, Turkey. Investigators reported that PKU patients taking Kuvan showed improvements in brain functioning, mood and behaviors. "While these...


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