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.

Audentes Therapeutics closes $30 million Series A financing

Audentes Therapeutics, Inc., a recently founded biotechnology company dedicated to the development of innovative treatments for rare muscle diseases, today announced the closing of a $30 million Series A financing.

18 Jul 2013

HUGO recognizes Dr. Patrick Tan for research on genomic profiles of Asian cancers

Dr Patrick Tan from A*STAR's Genome Institute of Singapore has received the 2013 Chen New Investigator Award from the international Human Genome Organisation.

19 Apr 2013

Canine Pompe disease can now be diagnosed with genetic test

Pompe disease, a severe glycogen storage disease appearing in Lapphunds is caused by a genetic defect in acid α-glucosidase gene. The same genetic mutation also causes the equivalent disease in humans. Based on this finding, canine Pompe disease can now be diagnosed with a genetic test.

16 Feb 2013

Novel technology can lead to more efficient and cheaper therapy for Pompe disease

VIB researchers from UGent and Vrije Universiteit Brussel , together with a team of the firm Oxyrane have developed a new technology that can lead to a more efficient and possibly also cheaper therapy for diseases such as Pompe disease. Oxyrane will now start developing a clinical program for this therapy in Pompe disease.

21 Nov 2012

Targeted delivery of therapeutic gene can effectively treat Pompe disease

Gene therapy to replace the protein missing in Pompe disease can be effective if the patient's immune system does not react against the therapy. Targeted delivery of the gene to the liver, instead of throughout the body,suppresses the immune response, improving the therapeutic effect, according to an article published in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc.

26 Jun 2012

AHRQ grants U-M $2.5M to study long-term health outcomes and cost-effectiveness of newborn screening

University of Michigan researchers will use a $2.5 million grant from the Agency for Healthcare Research and Quality to study long-term health outcomes and cost-effectiveness of newborn screening.

2 Mar 2012

GSK, Angiochem to develop and commercialize LSD treatments

Angiochem announced today a global collaboration with GlaxoSmithKline (GSK) to discover, develop and commercialize treatments for lysosomal storage diseases.

27 Feb 2012

Combination of cancer drugs shows promise against Pompe disease

Kids with Pompe disease fail because of a missing enzyme, GAA, that leads to dangerous sugar build-up, which affects muscles and movement. An enzyme replacement treatment pioneered at Duke University has saved many lives, but some children with Pompe disease produce an immune reaction that blocks the benefits of the life-saving enzyme treatment.

6 Jan 2012

BioMarin to initiate BMN-111 Phase 1 trial in achondroplasia

BioMarin Pharmaceutical Inc. announced today that the Investigational New Drug (IND) application for BMN-111, an analog of C-type Natriuretic Peptide (CNP), for achondroplasia is active.

4 Jan 2012

EMA CHMP recommends approval for BioMarin's Novato manufacturing facility expansion

BioMarin Pharmaceutical Inc. announced today that the Committee for Medicinal Products for Human Use of the European Medicines Agency has recommended approval for the company's manufacturing facility expansion in Novato, CA.

19 Dec 2011

BioMarin commences GALNS Phase 2 study in mucopolysaccharidosis IVA

BioMarin Pharmaceutical Inc. today announced the initiation of a Phase 2 study for GALNS (N-acetylgalactosamine 6-sulfatase) in patients under five years of age with mucopolysaccharidosis IVA.

30 Nov 2011

Positive data from BioMarin's MOR-100 Phase 1/2 extension study on Morquio syndrome

BioMarin Pharmaceutical Inc. today announced an update on the GALNS Phase 1/2 extension study (MOR-100) in which patients have continued treatment on an ongoing basis.

29 Jul 2011

BioMarin commences BMN 673 Phase 1 trial in hematological malignancies

BioMarin Pharmaceutical Inc. today announced the initiation of a Phase 1 trial for BMN 673, a poly ADP-ribose polymerase (PARP) inhibitor, for the treatment of patients with advanced hematological malignancies.

15 Jul 2011

BioMarin to acquire Pfizer's Ireland manufacturing plant

BioMarin Pharmaceutical Inc. announced today that it has entered into a definitive agreement to acquire a bulk biologics manufacturing plant from Pfizer, located in Shanbally, Cork, Ireland.

24 Jun 2011

BioMarin announces preliminary results from ADAPT in patients suffering from PKU

BioMarin Pharmaceutical Inc. announced today preliminary results from ADAPT (A Diversified Approach for PKU Treatment) in an abstract (Abstract #91, Mental Health Screening in Phenylketoniuria Clinic) presented by Barbara Burton, MD at the 2011 annual American College of Medical Genetics conference in Vancouver, Canada.

19 Mar 2011

FDA removes clinical hold for Amicus' AT2220 IND for treatment of Pompe disease

Amicus Therapeutics today announced that the U.S. Food and Drug Administration (FDA) has removed the clinical hold for the AT2220 (1-deoxynojirimycin HCI) Investigational New Drug Application (IND). AT2220 is a pharmacological chaperone in development as a treatment for Pompe disease.

9 Mar 2011

Amicus to present additional positive data from Amigal Phase 2 extension study for Fabry disease

Amicus Therapeutics today announced that additional positive data from the ongoing Phase 2 extension study of its investigational drug Amigal™ (migalastat HCl) for Fabry disease will be presented at the Lysosomal Disease Network WORLD Symposium in Las Vegas, Nevada, February 16-18th, 2011.

17 Feb 2011