Latest Lysosomal storage disease Stories

U.S. commercial launch anticipated by end of Q2 2013 NOVATO, Calif., May 1, 2013 /PRNewswire/ -- Raptor Pharmaceutical Corp. ("Raptor" or the "Company") (Nasdaq: RPTP), today announced that the U.S. Food and Drug Administration (FDA) has approved PROCYSBI(TM) (cysteamine bitartrate) delayed release capsules for the treatment of nephropathic cystinosis in adults and children 6 years and older. In a Phase 3 study, PROCYSBI showed consistent cystine depletion over the full 12-hour...

U.S. commercial launch anticipated by end of Q2 2013 NOVATO, Calif., April 30, 2013 /PRNewswire/ -- Raptor Pharmaceutical Corp. ("Raptor" or the "Company") (Nasdaq: RPTP), today announced that the U.S. Food and Drug Administration (FDA) has approved PROCYSBI(TM) (cysteamine bitartrate) delayed release capsules for the treatment of nephropathic cystinosis in adults and children 6 years and older. In a Phase 3 study, PROCYSBI showed consistent cystine depletion over the full...

LEXINGTON, Massachusetts, February 19, 2013 /PRNewswire/ -- Shire plc (LSE: SHP, NASDAQ: SHPG), announces that the Lysosomal Disease Network (LDN) presented Shire Human Genetic Therapies (HGT) with the first ever Novel Treatment Award for VPRIV on February 14th, at its 9th Annual WORLD Symposium. The LDN have launched this new award, which will be presented annually, to recognize new drugs or therapies that have made a considerable contribution in the area of lysosomal...

CINCINNATI, Feb. 4, 2013 /PRNewswire-USNewswire/ -- Researchers have overcome a major challenge to treating brain diseases by engineering an experimental molecular therapy that crosses the blood-brain barrier to reverse neurological lysosomal storage disease in mice. (Logo: http://photos.prnewswire.com/prnh/20110406/MM79025LOGO) Posted online in PNAS Early Edition on Feb. 4, the study was led by scientists at Cincinnati Children's Hospital Medical Center. "This study provides a...

WASHINGTON, Jan. 28, 2013 /PRNewswire/ -- Today ten families of patients with a rare disease called cystinosis and three foundations supporting cystinosis research tell their stories to policymakers on Capitol Hill in an effort to educate lawmakers about rare diseases like cystinosis and how upcoming federal spending decisions could impact the availability of medicines for rare diseases. Cystinosis is a metabolic lysosomal storage disease that is diagnosed in infancy and often...

Connie K. Ho for redOrbit.com – Your Universe Online Advances in medical technology have made it possible for new treatments to be developed. One such example of the development of treatments is work done by BioMarin Pharmaceutical Inc., a company focused on developing and commercializing biopharmaceuticals for serious diseases and other medical conditions. Having met the primary endpoint of change in a six minute distance walk as compared to a placebo at 24 weeks for participants taking...

Rare Pictures of Hope(TM) Campaign Launched to Spotlight Those Suffering from Rare Diseases NIH and FDA Unite To Hold Rare Disease Awareness and Educational Events DANA POINT, Calif., Feb. 29, 2012 /PRNewswire-USNewswire/ -- Hope - It's In Our Genes.(TM) Today, on the rarest of calendar days, thousands of organizations and millions of rare disease advocates are observing the fifth annual World Rare Disease Day. The R.A.R.E. Project, a leading rare disease patient advocacy...

A research team led by biochemist Scott Garman at the University of Massachusetts Amherst has discovered a key interaction at the heart of a promising new treatment for a rare childhood metabolic disorder known as Fabry disease. The discovery will help understanding of other protein-folding disorders such as Alzheimer's, Parkinson's and Huntington's diseases, as well. Findings are featured as the cover story in the current issue of Chemistry & Biology. People born with Fabry disease...

(Ivanhoe Newswire) -- Cells, like ordinary households, produce "garbage" "“ debris and dysfunctional elements "“ that need disposal. When the mechanism for taking out this garbage fails, rare genetic diseases called lysosomal storage disorders (including Tay-Sachs, Batten and Fabry disease) can disable and even kill the children they affect. In adults, such failure leads to neurodegenerative diseases that occur later in life, such as Alzheimer's and Parkinson's diseases.An...

Cells, like ordinary households, produce "garbage" "“ debris and dysfunctional elements "“ that need disposal. When the mechanism for taking out this garbage fails, rare genetic diseases called lysosomal storage disorders (including Tay-Sachs, Batten and Fabry disease) can disable and even kill the children they affect. In adults, such failure leads to neurodegenerative diseases that occur later in life, such as Alzheimer's and Parkinson's diseases.An international partnership...