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Latest Inborn errors of metabolism Stories

2010-03-18 13:32:00

SILVER SPRING, Md., March 18 /PRNewswire-USNewswire/ -- The U.S. Food and Drug Administration today approved Carbaglu (carglumic acid) Tablets to treat a condition that results in too much ammonia in the blood. (Logo: http://www.newscom.com/cgi-bin/prnh/20090824/FDALOGO) The condition, N-acetylglutamate synthase or NAGS deficiency, is an extremely rare, genetic disorder that can be present in babies soon after birth. NAGS deficiency and the resulting elevated levels of ammonia...

2010-02-24 10:48:00

NEW YORK, Feb. 24 /PRNewswire/ -- Guidepoint Global, LLC, a leading primary research firm, today announced the launch of their Genetic Disorder Tracker, a monthly longitudinal data release that captures commercial trends, on a worldwide basis, associated with the treatment of eight rare genetic disorders: Gaucher's disease, Fabry's disease, PKU, MPS I (Hurler Syndrome), MPS II (Hunter Syndrome), MPS VI (Maroteaux-Lamy Syndrome), Niemann-Pick disease and Pompe disease. Guidepoint's Genetic...

2010-02-24 06:18:00

CAMBRIDGE, Massachusetts, February 24, 2010 /PRNewswire-FirstCall/ -- Shire plc (LSE: SHP, NASDAQ: SHPGY), the global specialty biopharmaceutical company, announces it has received Fast Track designation from the FDA for REPLAGAL(R) (agalsidase alfa), its enzyme replacement therapy for Fabry disease. Shire filed a BLA for REPLAGAL in December 2009. The FDA requested additional human pharmacokinetic data to confirm comparability between product that was manufactured in roller bottles,...

2010-02-11 14:15:00

CRANBURY, N.J., Feb. 11 /PRNewswire-FirstCall/ -- Amicus Therapeutics (Nasdaq: FOLD) announced today additional positive preliminary data from its ongoing Phase 2 extension study of its investigational drug Amigal(TM) (migalastat HCl) for Fabry disease at the Lysosomal Disease Network WORLD Symposium in Miami, Florida. The Company also presented encouraging data from preclinical studies evaluating the combination of pharmacological chaperones and enzyme replacement therapy (ERT) for Fabry...

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2010-02-11 09:00:00

Findings suggest common speech problem, in some cases, may actually be an inherited metabolic disorder Stuttering may be the result of a glitch in the day-to-day process by which cellular components in key regions of the brain are broken down and recycled, says a study in the Feb. 10 Online First issue of the New England Journal of Medicine. The study, led by researchers at the National Institute on Deafness and Other Communication Disorders (NIDCD), part of the National Institutes of Health,...

2010-02-04 15:00:00

NOVATO, Calif., Feb. 4 /PRNewswire-FirstCall/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) today announced an update on the Phase I/II trial for BMN 110 or N-acetylgalactosamine 6-sulfatase (GALNS), intended for the treatment of the lysosomal storage disorder Mucopolysaccharidosis Type IVA (MPS IVA), or Morquio A Syndrome. Preliminary clinical data from the first 24 weeks of the study (12 weeks at 0.1mg/kg and 12 weeks at 1.0 mg/kg) have been evaluated, and BioMarin plans to announce...

2010-02-03 06:00:00

CAMBRIDGE, Mass., Feb. 3 /PRNewswire-FirstCall/ -- Shire plc (LSE: SHP, Nasdaq: SHPGY), the global specialty biopharmaceutical company, today announced that data from one of three Phase III clinical trials for velaglucerase alfa, the company's enzyme replacement therapy (ERT) in development for the treatment of Type 1 Gaucher disease, will be presented at the Lysosomal Disease Network (LDN) World Symposium, February 10-12, 2010 in Miami, Florida. In addition to two oral presentations and...

2010-01-11 07:00:00

CRANBURY, N.J., Jan. 11 /PRNewswire-FirstCall/ -- Amicus Therapeutics (Nasdaq: FOLD) today outlined the Company's three key strategic priorities and presented a corporate outlook for 2010 at the 28th Annual J.P. Morgan Healthcare Conference. "In 2010 our strategic priorities are clear and we remain steadfast in executing our business goals. We are committed to focusing our resources on three value-creating centers within Amicus. Advancing our global Amigal Phase 3 program is our...

2009-12-22 06:00:00

CAMBRIDGE, Massachusetts, December 22 /PRNewswire-FirstCall/ -- Shire plc (LSE: SHP, NASDAQ: SHPGY), the global specialty biopharmaceutical company, today announced that it has submitted a BLA with the FDA for REPLAGAL(R) (agalsidase alfa), its enzyme replacement therapy for Fabry disease. REPLAGAL first received marketing authorization in the European Union in 2001, and is approved for the treatment of Fabry disease in 45 countries. REPLAGAL is currently available to U.S. Fabry...

2009-12-04 12:40:00

WASHINGTON, Dec. 4 /PRNewswire-USNewswire/ -- The following is an op-ed by Jeffrey Lewis, President of the Heinz Family Philanthropies: Credit Senators John Kerry (D-MA) and Robert Casey (D-PA) with a significant contribution to the health care debate: a bill ends a glaring disparity in the way Americans living with Phenylketonuria (PKU) control their potentially devastating disease, and the way others living with serious chronic conditions are treated. "The Medical Foods Equity Act of...


Word of the Day
cenobite
  • One of a religious order living in a convent or in community; a monk: opposed to anchoret or hermit (one who lives in solitude).
  • A social bee.
This word comes from the Latin 'coenobium,' convent, which comes from the Greek 'koinobios,' living in community.
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