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

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

Targeted delivery of therapeutic gene can effectively treat Pompe disease

Targeted delivery of therapeutic gene can effectively treat Pompe disease

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

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

GSK, Angiochem to develop and commercialize LSD treatments

GSK, Angiochem to develop and commercialize LSD treatments

Combination of cancer drugs shows promise against Pompe disease

Combination of cancer drugs shows promise against Pompe disease

BioMarin to initiate BMN-111 Phase 1 trial in achondroplasia

BioMarin to initiate BMN-111 Phase 1 trial in achondroplasia

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

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

BioMarin commences GALNS Phase 2 study in mucopolysaccharidosis IVA

BioMarin commences GALNS Phase 2 study in mucopolysaccharidosis IVA

PerkinElmer Genetics launches new Lysosomal Storage Disorder panel

PerkinElmer Genetics launches new Lysosomal Storage Disorder panel

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

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

BioMarin commences BMN 673 Phase 1 trial in hematological malignancies

BioMarin commences BMN 673 Phase 1 trial in hematological malignancies

BioMarin to acquire Pfizer's Ireland manufacturing plant

BioMarin to acquire Pfizer's Ireland manufacturing plant

BioMarin announces preliminary results from ADAPT in patients suffering from PKU

BioMarin announces preliminary results from ADAPT in patients suffering from PKU

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

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

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

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

BioMarin commences GALNS Phase 3 trial in patients with Morquio A Syndrome

BioMarin commences GALNS Phase 3 trial in patients with Morquio A Syndrome

Genzyme's diagnostic products sold to Sekisui Chemical for $265 million

Genzyme's diagnostic products sold to Sekisui Chemical for $265 million

Genzyme to expand Geel facility to support growth of Myozyme and Lumizyme for Pompe disease

Genzyme to expand Geel facility to support growth of Myozyme and Lumizyme for Pompe disease

Biomarin commences BMN 701 Phase 1/2 trial for treatment of Pompe disease

Biomarin commences BMN 701 Phase 1/2 trial for treatment of Pompe disease

2010 Mid-Atlantic Bio a great kick-off for hosting 2011 BIO International Convention

2010 Mid-Atlantic Bio a great kick-off for hosting 2011 BIO International Convention