News

July 22, 2020July 22, 2020

European Study: Myozyme Improves Walking, Respiratory Function in Adults With Pompe

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Treatment with Myozyme (alglucosidase alfa, marketed as Lumizyme in the U.S.) improves walking ability and may stabilize respiratory function in adults with Pompe disease during the first three years of treatment, according to a ... Read more

July 16, 2020July 16, 2020

MDA’s Virtual Drug Development Meeting Brings Together Pompe Patients, Industry

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The Muscular Dystrophy Association (MDA) held its first externally led Patient-Focused Drug Development (PFDD) meeting on Pompe disease earlier this week. The July 13 virtual PFDD meeting allowed Pompe ... Read more

July 10, 2020July 10, 2020

National Survey Seeks to Assess Full Social, Economic Burdens of Rare Diseases in US

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The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease ... Read more

July 8, 2020July 8, 2020

Stem Cell Gene Therapy Restores Glycogen Levels, Aids Movement in Mouse Study

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Transplanting blood stem cells modified to carry the GAA gene raised glycogen levels almost to normal across a range of organs, including the brain, and improved locomotion in a mouse model of ... Read more

July 1, 2020July 1, 2020

Myozyme at Higher Dose More Effective for Classic Infantile Pompe, Study Says

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Children with classic infantile Pompe disease on higher and more frequent doses of Myozyme (alglucosidase alfa) live longer without needing respiratory support, and have better motor outcomes, than those ... Read more

June 24, 2020June 24, 2020

Glc4 Is Potential Biomarker of Pompe Disease, Study Suggests

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Measuring the urinary levels of a particular sugar molecule called tetraglucose (Glc4) could be useful for diagnosing Pompe disease, a study from France suggests. The study, “Urine glucose tetrasaccharide: ... Read more

June 22, 2020June 22, 2020

Alexion Charitable Foundation Giving $1.1M to Assist Rare Disease Community During Pandemic

cystic fibrosis, News, syndicated

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will ... Read more

June 17, 2020June 17, 2020

Avalglucosidase Alfa Improves Breathing, Mobility in Late-onset Patients in Phase 3 Trial

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Avalglucosidase alfa, an investigational next-generation enzyme replacement therapy (ERT), leads to clinically meaningful improvements in respiratory muscle strength and mobility in children and adults with late-onset Pompe disease (LOPD), according ... Read more

June 9, 2020June 10, 2020

Coalition Will Address Racial Disparities in Rare Disease Communities

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The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis ... Read more

May 29, 2020May 29, 2020

COVID-19 Delaying Rare Disease and Gene Therapy Trials, Pharma Execs Say

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While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene ... Read more