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Latest Glycogen storage disease type II Stories

2010-08-05 15:00:00

CRANBURY, N.J., Aug. 5 /PRNewswire-FirstCall/ -- Amicus Therapeutics (Nasdaq: FOLD) today announced financial results for the quarter ended June 30, 2010, provided an update on its product development pipeline and reiterated guidance for timelines related to its Phase 3 program with Amigal (migalastat HCl) for the treatment of Fabry disease. John F. Crowley, Chairman and CEO of Amicus Therapeutics stated, "Our global Phase 3 program with Amigal for Fabry disease is our number one...

2010-06-16 23:25:17

University of Florida doctors among first in nation to administer newly available therapy for late-onset Pompe disease The first commercially available treatment in the United States for patients with late-onset Pompe disease was administered today (Wednesday, June 16) at the University of Florida. Pompe disease is a rare form of muscular dystrophy and has been the focus of a research program at UF for more than 10 years. It is now part of expanded efforts in neuromuscular disease research....

2010-05-25 09:55:00

SILVER SPRING, Md., May 25 /PRNewswire-USNewswire/ -- The U.S. Food and Drug Administration approved Lumizyme (alglucosidase alfa) for patients ages 8 years and older with late-onset (non-infantile) Pompe disease, a rare genetic disorder. (Logo: http://www.newscom.com/cgi-bin/prnh/20090824/FDALOGO) Pompe disease occurs in an estimated 1 in every 40,000 to 300,000 births. Its primary symptom is heart and skeletal muscle weakness, progressing to respiratory weakness and death from...

2010-05-24 13:00:00

SILVER SPRING, Md., May 24 /PRNewswire-USNewswire/ -- Genzyme Corp. has signed a consent decree agreeing to correct manufacturing quality violations at its Allston, Mass., manufacturing facility and will turn over to the federal government $175 million in unlawful profits from the sale of products that were made at the plant, the U.S. Food and Drug Administration announced today. (Logo: http://www.newscom.com/cgi-bin/prnh/20090824/FDALOGO) Under the consent decree of permanent injunction,...

2010-05-06 15:00:00

CRANBURY, N.J., May 6 /PRNewswire-FirstCall/ -- Amicus Therapeutics (Nasdaq: FOLD) today announced financial results for the quarter ended March 31, 2010 and reviewed the progress on its product development pipeline including an update that the Company does not plan to advance AT2220, its investigational drug AT2220 (1-deoxynojirimycin HCl) for the treatment of Pompe disease, as a monotherapy at this time. First Quarter Highlights: Amicus presented positive data from its Phase 2...

2010-03-29 16:00:00

MONTREAL, March 29 /PRNewswire/ -- Enobia Pharma Inc. unveiled findings from the first hypophosphatasia (HPP) self-reported patient survey intended to evaluate the burden of illness associated with HPP at the 2010 American College of Medical Genetics (ACMG) Annual Clinical Genetics Meeting. An update on the clinical program for ENB-0040, Enobia's investigational enzyme replacement therapy for HPP, was also presented at the meeting by Cheryl Rockman-Greenberg, MD, Medical Director, Child...

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...

2010-02-11 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...

2010-02-01 07:30:00

The HCMA Says a Simple Genetic Test Can Tell For Sure HIBERNIA, N.J., Feb. 1 /PRNewswire-USNewswire/ -- Hypertrophic Cardiomyopathy (HCM) is a genetic disease that causes the heart muscle to become abnormally large. It often goes undetected and, as a result, HCM has the dubious distinction of being the leading cause of sudden death in children, young adults and athletes. (Logo: http://www.newscom.com/cgi-bin/prnh/20100201/DC46121LOGO ) "Unfortunately, HCM also is a great masquerader,"...

2010-01-26 15:00:00

GAINESVILLE, Fla. -- As scientists work to find new treatments for Pompe disease -- the devastating genetic "villain" that drives the efforts of the main characters in the new film "Extraordinary Measures" -- University of Florida researchers are hopeful that gene therapy will help patients in the late stages of the disease breathe on their own. Clinical trials of a gene therapy for Pompe-related breathing problems in six infants are expected to begin at UF this summer. Writing...


Word of the Day
omphalos
  • The navel or umbilicus.
  • In Greek archaeology: A central boss, as on a shield, a bowl, etc.
  • A sacred stone in the temple of Apollo at Delphi, believed by the Greeks to mark the 'navel' or exact center-point of the earth.
'Omphalos' comes from the ancient Greek.
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