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Latest Inborn errors of metabolism Stories

2009-06-02 07:00:00

- Company preparing to initiate phase II trial in hepatic encephalopathy - SOUTH SAN FRANCISCO, Calif., June 2 /PRNewswire/ -- Hyperion Therapeutics, Inc. today announced top-line results from a phase I study of HPN-100 in patients with liver cirrhosis. The data were presented as part of the 2009 Digestive Disease Week meeting. The abstract is titled "Pharmacokinetic (PK) and Safety Analyses of a Novel Ammonia-Reducing Agent in Healthy Adults and Patients with Cirrhosis." (Logo:...

2009-05-29 08:03:25

 A dog born with a deadly disease that prevents the body from using stored sugar has survived 20 months and is still healthy after receiving gene therapy at the University of Florida "” putting scientists a step closer to finding a cure for the disorder in children.Called glycogen storage disease type 1A, the genetic disease stops the body from being able to correctly store and use sugar between meals. In order to survive, children and adults with this disease must receive precise...

2009-05-15 08:00:00

National Organization for Rare Disorders (NORD) Recognizes BioMarin's Efforts to Expand Treatment Options for Patients with PKU NOVATO, Calif., May 15 /PRNewswire-FirstCall/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced today that it has received the 2009 Corporate Award from the National Organization for Rare Disorders (NORD), an organization dedicated to improving the lives of people with rare diseases. The award was presented on May 14 at NORD's annual "Partners in Progress"...

2009-05-05 07:00:00

- Company preparing to initiate phase III clinical trial - SOUTH SAN FRANCISCO, Calif., May 5 /PRNewswire/ -- Hyperion Therapeutics, Inc. today announced that HPN-100 has received orphan product designation from the U.S. Food and Drug Administration for maintenance treatment of patients with enzymes of the urea cycle. The Company recently announced results from its phase II study and intends to initiate a phase III clinical program in this indication in the second half of 2009. (Logo:...

2009-04-21 15:00:00

NOVATO, Calif., April 21 /PRNewswire-FirstCall/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced today the initiation of a Phase 1/2 clinical 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. The company expects to report initial results in the first half of 2010. "We plan to leverage our clinical, manufacturing and regulatory expertise to...

2009-04-06 04:24:00

LEIDEN, The Netherlands, April 6 /PRNewswire/ -- The Dutch Orphan Disease Registry Consortium is set up in order to build a disease registry framework to collect information on rare diseases, encourage drug development and optimize patient care. The consortium focuses on inborn errors of metabolism as target group of diseases. The number of distinct rare (orphan) diseases is estimated to be between 5,000 and 8,000, with around 29 million rare disease sufferers in the European Union....

2009-03-30 07:00:00

- Company preparing to initiate phase III trial - SOUTH SAN FRANCISCO, Calif., March 30 /PRNewswire/ -- Hyperion Therapeutics, Inc. today announced top-line results from their phase II study of HPN-100 for the treatment of urea cycle disorders. The data was presented on March 27th at the 16th Annual Clinical Genetics Meeting of the American College of Medical Genetics by Brendan Lee, M.D., Ph.D., Howard Hughes Medical Institute Investigator and Professor Department of Molecular and Human...

2009-03-18 08:00:00

NOVATO, Calif., March 18 /PRNewswire-FirstCall/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced today that its application for clinical trial authorization (CTA) 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, has been accepted by the United Kingdom Medicines and Healthcare Products Regulatory Agency (MHRA). BioMarin expects to initiate a Phase 1/2...

2009-02-27 08:30:00

CRANBURY, N.J., Feb. 27 /PRNewswire-FirstCall/ -- Amicus Therapeutics (Nasdaq: FOLD) announced today that the Company has suspended enrollment for the Phase 2 clinical trial of its investigational drug AT2220 (1-deoxynojirimycin HCI) for the treatment of Pompe Disease and that it has received verbal notice from the U.S. Food and Drug Administration (FDA) that the trial is on clinical hold. After evaluation of available data the Company plans to work closely with the FDA and if appropriate...

2009-02-18 15:00:00

CRANBURY, N.J., Feb. 18 /PRNewswire-FirstCall/ -- Amicus Therapeutics (Nasdaq: FOLD) announced today that Stephen Bloch, M.D., General Partner with Canaan Equity Partners, has resigned from the Company's Board of Directors effective February 17, 2009. Dr. Bloch served as a member of Amicus' board since 2004. About Amicus Therapeutics Amicus Therapeutics is a biopharmaceutical company developing novel, oral therapeutics known as pharmacological chaperones for the treatment of a range of...


Word of the Day
caparison
  • A cloth or covering, more or less ornamented, laid over the saddle or furniture of a horse, especially of a sumpter-horse or horse of state.
  • Clothing, especially sumptuous clothing; equipment; outfit.
  • To cover with a caparison, as a horse.
  • To dress sumptuously; adorn with rich dress.
This word ultimately comes from the Medieval Latin 'cappa,' cloak.
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