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December 5, 2018December 5, 2018

Early, Higher Myozyme Dose Effective in Boy With Classic Infantile-onset Pompe, Study Reports

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Early treatment with a four times higher dose of Myozyme (alglucosidase alpha) was safe and enabled normal motor development and normalization of markers of muscle damage and disease progression in ... Read more

November 28, 2018November 28, 2018

Breathing Exercises Enhanced Respiratory Capacity of Late-onset Pompe Disease Patients

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Frequent inspiratory muscle training — a set of breathing exercises to strengthen the respiratory muscles making it easier to breathe — enhanced the breathing capacity of late-onset Pompe disease ... Read more

November 21, 2018November 21, 2018

Most Pompe Disease Patients Should Practice Pulmonary Hygiene on Daily Basis, Study Suggests

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Most patients with juvenile- and adult-onset Pompe disease have difficulties coughing that put them at an increased risk for respiratory problems, but few of them incorporate techniques of pulmonary ... Read more

November 7, 2018November 7, 2018

Low Activity of Enzymes Involved in Pompe, Fabry Diseases Linked to More Dilated Arteries in Brain, Study Reports

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Lower activity of the two lysosomal enzymes underlying Pompe and Fabry diseases — acid alpha-glucosidase enzyme (GAA) and alpha-galactosidase A (GLA) — is linked to dilated arteries in the ... Read more

October 31, 2018October 31, 2018

Break in ERT Treatment Linked to Worse Outcomes in Late-Onset Pompe Patients, Study Reports

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Long-term interruption of enzyme replacement therapy (ERT) can lead to negative outcomes for late-onset Pompe disease patients, affecting their lung and exercise capacity as well as quality of life, a Swiss retrospective study ... Read more

October 24, 2018October 24, 2018

Lantern Project Intends to Streamline Diagnosis of Pompe, Other Rare Diseases

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Sanofi Genzyme and PerkinElmer Genomics have launched the Lantern Project, a comprehensive genetic testing program that aims to overcome the barriers to diagnosing rare diseases, such as Pompe disease. ... Read more

October 17, 2018October 17, 2018

Methotrexate Seen to Counter Immune Reaction to Enzyme Replacement Therapy in Small Study

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Low-dose treatment with methotrexate can reduce the immune reaction that often accompanies enzyme replacement therapies in infants with Pompe disease, researchers report. Their study, “An immune tolerance approach using ... Read more

October 10, 2018

Advocacy Groups, Doctors Question Rising Prices of Rare Disease Treatments

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Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based ... Read more

October 10, 2018October 10, 2018

Spark Therapeutics’ SPK-3006 Shows Promising Preclinical Data for Treating Pompe Disease

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Spark Therapeutics has announced promising preclinical data from animal studies regarding its experimental gene therapy, SPK-3006, to treat Pompe disease. With these positive results, the company plans to conduct ... Read more

September 21, 2018

#NORDSummit – More Than 700 Expected to Attend Oct. 15-16 Rare Disease Summit in Washington

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More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products ... Read more

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