Pompe Disease News and Research

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Pompe disease is a rare and often fatal muscle disease caused by an inherited deficiency of the enzyme acid alpha-glucosidase, which is responsible for breaking down glycogen within cells. Pompe disease ranges from a rapidly fatal infantile-onset form with severe cardiac involvement to a more slowly progressive late-onset form primarily affecting skeletal muscle. There is currently no therapeutic treatment available for the disease, which affects an estimated 5,000-10,000 people worldwide.

Genzyme receives PDUFA date from FDA for its Biologics License Application for Lumizyme

Genzyme Corporation announced today that it has received a June 17, 2010 PDUFA date from the FDA for its Biologics License Application for Lumizyme™ (alglucosidase alfa) seeking approval for the therapy produced at the 4000 L scale.

21 Jan 2010

Amicus Therapeutics presents corporate outlook for 2010 at Annual J.P. Morgan Healthcare Conference

Amicus Therapeutics 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.

12 Jan 2010

Genzyme announces reopening of enrollment in its Pompe disease ATAP program

Genzyme Corporation announced today that it will reopen enrollment in the Alglucosidase Alfa Temporary Access Program (ATAP), a program which provides access to treatment for severely affected adults with Pompe disease prior to commercial approval of Lumizyme™ (alglucosidase alfa). Genzyme and the FDA have also agreed on a path toward approval of Lumizyme.

4 Dec 2009

Genzyme receives FDA complete response letter for its Lumizyme marketing application

Genzyme Corporation announced today that it has received a complete response letter from the FDA regarding its application to market Lumizyme™ (alglucosidase alfa) for the treatment of Pompe disease. In its letter, the agency stated that satisfactory resolution of deficiencies related to the Allston Landing manufacturing plant are required before the Lumizyme application can be approved.

17 Nov 2009

Shire announces third quarter 2009 financial results

Shire plc, the global specialty biopharmaceutical company, announces results for the three months to September 30, 2009.

31 Oct 2009

FDA approves ZyStor Therapeutics' ZC-701 for Phase I human safety trial

ZyStor Therapeutics, Inc., a biotechnology company developing a new class of targeted protein therapeutics for the treatment of Lysosomal Storage Diseases using the Company's proprietary Glycosylation Independent Lysosomal Targeting technology, today announced that it has received clearance from the U. S. Food and Drug Administration to proceed into a clinical trial for its first drug candidate, ZC-701, an enzyme replacement therapy for the treatment of Pompe disease.

14 Oct 2009

Research to explore diagnosis and treatment of rare diseases

The National Institutes of Health announced today a second phase of the Rare Diseases Clinical Research Network (RDCRN) including funds for 19 research consortia.

7 Oct 2009

Amicus Therapeutics to initiate Phase 1 study of AT2220

Amicus Therapeutics today announced it plans to initiate a Phase 1 study of AT2220 (1-deoxynojirimycin HCl), its investigational drug in development for the treatment of Pompe Disease.

30 Sep 2009

Nervous system may be culprit in Pompe disease

Brain may win out over brawn as the primary cause of breathing problems in children with a severe form of muscular dystrophy known as Pompe disease.

25 May 2009

One injection of gene therapy spreads through brain in animal study

By targeting a site in a mouse brain well connected to other areas, researchers successfully delivered a beneficial gene to the entire brain - after one injection of gene therapy.

9 Oct 2007

Genzyme receives Japanese marketing approval for Elaprase

Genzyme Corp. has announced that it has received approval to market Elaprase (idursulfase) in Japan for the treatment of Hunter syndrome.

4 Oct 2007

Novel preclinical gene therapy approach for treating Niemann-Pick disease

Genzyme Corp. has announced the publication of a new study in The Proceedings of the National Academy of Sciences describing a novel preclinical gene therapy approach for treating Niemann-Pick disease.

24 May 2007

New way of delivering corrective genes holds promise for hereditary diseases of the heart

A new way of delivering corrective genes with a single injection into a vein holds promise for long-lasting treatments of hereditary diseases of the heart, University of Florida researchers report.

6 Aug 2006

New drug to treat rare Pompe disease gets FDA approval

The Food and Drug Administration in the U.S. has given approval for the first drug to treat a rare, debilitating muscle disease that can kill infants within a year.

1 May 2006

Genzyme files for European approval of Myozyme for treatment of Pompe disease

Genzyme Corp. announced today that the European Medicines Agency (EMEA) has accepted its marketing authorization application for Myozyme(R) (alglucosidase alfa), an investigational enzyme replacement therapy for Pompe disease.

20 Dec 2004

Three studies in acid maltase deficiency or Pompe’s disease are progressing on schedule

Three studies in acid maltase deficiency (AMD, or Pompe’s disease) being conducted by Genzyme of Cambridge, Mass., with support from MDA, are progressing on schedule, the company says.

10 Jul 2004

University of Florida researchers have used a common gel to successfully deliver gene therapy to the diaphragm

The technique, described in the current issue of Molecular Therapy, could eventually lead to a method to correct genetic conditions in humans that cause diaphragm weakness and respiratory failure -- a leading cause of death in tens of thousands of patients with forms of muscular dystrophy, including Pompe’s disease. Thousands of Americans with muscle-weakening diseases are placed on ventilators each year, according to the Muscular Dystrophy Association.

7 Apr 2004