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Last updated on April 17, 2014 at 12:35 EDT

Latest Lysosomal storage diseases Stories

2013-05-14 12:30:08

DOYLESTOWN, Pa., May 14, 2013 /PRNewswire/ -- Callidus Biopharma, Inc., a development-stage biotechnology company focused on creating breakthrough biologic drugs for a range of orphan diseases, announced today that it has closed on $4.6 million in Series A financing led by two strategic investors. The Company intends to use the proceeds to accelerate pre-clinical development of its drug discovery pipeline of therapies for lysosomal storage diseases (LSDs), including lead candidates in Pompe...

2012-06-28 02:27:35

NYON, Switzerland, June 28, 2012 /PRNewswire/ -- Shire plc (LSE: SHP, NASDAQ: SHPGY), the global specialty biopharmaceutical company, today presented new data that show VPRIV(R) (velaglucerase alfa for injection), the company's enzyme replacement therapy for type 1 Gaucher disease, significantly improved selected markers of Gaucher-related bone disease in patients. These data were presented at the European Working Group on Gaucher Disease (EWGGD) meeting held in Paris, France,...

2012-05-01 06:25:37

FBR Media's heartfelt television show about two children living with a rare and fatal genetic disease, called Niemann-Pick Type C, nominated for Emmy® Award WASHINGTON, May 1, 2012 /PRNewswire-USNewswire/ -- FBR Media announced today its television show "SurvivorTales: Niemann-Pick Type C" is nominated for a 2012 Emmy® Award in the documentary category of the National Academy of Television Arts and Sciences' Lower Great Lakes Chapter competition. "SurvivorTales: Niemann-Pick...

2012-03-28 02:25:38

NOVATO, Calif., March 28, 2012 /PRNewswire/ -- Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced that the European Medicines Agency (EMA) has granted orphan drug designations for sialic acid for the treatment of hereditary inclusion body myopathy (HIBM) and recombinant human beta-glucuronidase for the treatment of mucopolysaccharidosis type 7 (MPS 7). Orphan designation in the European Union...

2012-03-16 11:10:09

Infants with Batten disease, a rare but fatal neurological disorder, appear healthy at birth. But within a few short years, the illness takes a heavy toll, leaving children blind, speechless and paralyzed. Most die by age 5. There are no effective treatments for the disease, which can also strike older children. And several therapeutic approaches, evaluated in mouse models and in young children, have produced disappointing results. But now, working in mice with the infantile form of...

2012-03-14 14:30:00

LEXINGTON, Massachusetts, March 14, 2012 /PRNewswire/ -- Shire plc (LSE: SHP, NASDAQ: SHPGY), the global specialty biopharmaceutical company, announced today that it has withdrawn its Biologics License Application (BLA) for REPLAGAL(R) (agalsidase alfa) with the US Food and Drug Administration (FDA). Shire has been in ongoing dialogue with the FDA since the supply shortage of the only US approved treatment for Fabry disease. In 2009, and again in 2011, the FDA encouraged...

2012-03-13 10:57:07

A University of Michigan cell biologist and his colleagues have identified a potential drug that speeds up trash removal from the cell's recycling center, the lysosome. The finding suggests a new way to treat rare inherited metabolic disorders such as Niemann-Pick disease and mucolipidosis Type IV, as well as more common neurodegenerative diseases like Alzheimer's and Parkinson's, said Haoxing Xu, who led a U-M team that reported its findings March 13 in the online, multidisciplinary...

2012-02-28 05:00:00

NOVATO, Calif., Feb. 28, 2012 /PRNewswire/ -- Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced that the FDA Office of Orphan Products Development has granted orphan drug designation for UX003 for the treatment of MPS 7. MPS 7 is an extremely rare autosomal recessive lysosomal storage disorder characterized by a deficiency of the lysosomal enzyme Beta-glucuronidase, required for the degradation...

2012-02-16 07:30:00

PHILADELPHIA, Feb. 16, 2012 /PRNewswire-USNewswire/ -- The Victor Center for the Prevention of Jewish Genetic Diseases at Einstein Medical Center in Philadelphia has been at the forefront of screening, education and genetic counseling regarding the 19 diseases that have a high carrier rate in the Ashkenazi Jewish population, or those whose ancestors are from Central and Eastern Europe. The goal is to provide individuals who are carriers with the knowledge to prevent these diseases...

2012-02-09 07:30:00

ATLANTA, Feb. 9, 2012 /PRNewswire/ -- On February 26 and 27, a two-day community-wide screening for potential carriers of 19 Jewish genetic diseases will be conducted at The Temple, located at 1589 Peachtree St., NE, in Atlanta. On Feb. 26, it will be held from 9:00 AM - 1:00 PM; on Feb. 27, the hours are from 9:00 AM - 12 noon. The first five registrants for each day will receive a free screening. The maximum out of pocket cost for insured individuals screened at AJGS...