Rare Disease Film Festival Highlights Patient and Researcher Unity
Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 ... Read more
Updates
-
-
Study Finds Association Between Whole-body MRI Measurements and Muscle Function Scores
Muscle strength and function measurements in people with late-onset Pompe disease (LOPD) correlate with whole-body magnetic resonance imaging (WBMRI) results, a new study suggests. ... Read more -
Caring for Your Heart When You Have Pompe Disease
Pompe disease is a rare genetic disease in which a type of complex sugar molecule called glycogen builds up within cells and affects their ... Read more -
Molecular ‘Tag’ Improves Efficacy of Gene Therapy for Pompe Disease in Mice, Study Shows
A molecular “tag” to improve distribution of the acid-alpha glucosidase (GAA) protein within cells enhanced the efficacy of gene therapy in a mouse model ... Read more -
Enzyme Replacement Therapy Loses Effectiveness in Pompe Patients with Long-term Use, Study Suggests
Long-term enzyme replacement therapy (ERT) to treat people with Pompe disease loses effectiveness in maintaining walking ability, muscle strength, and lung function, a new study ... Read more
Subscribe to our mailing list
Get regular updates delivered to your email box.
Thanks! Please check your email for a confirmation email.
-
How Does Pompe Disease Affect Life Expectancy?
Pompe disease is a rare, progressive genetic disease in which there is an accumulation ... -
Active Ingredient of Blood Pressure Treatment Boosts ERT’s Efficacy in Skeletal Muscles, Mouse Study Suggests
Adding carvedilol, the active compound of a blood pressure medicine, to enzyme replacement therapy (ERT) ... -
Tips for Managing Stress When You Have Pompe Disease
Living with the symptoms of a rare disease like Pompe disease can be very ... -
Fluid Build-up in Newborn Could Be Sign of Infantile-onset Pompe, Case Study Says
A case report of a baby boy diagnosed with abnormal fluid accumulation due to ... -
Managing Breathing Problems in Late-onset Pompe Disease
Pompe is a type of glycogen storage disease in which a complex sugar molecule ... -
AT-GAA Continues to Induce Motor, Lung Improvements in Pompe Adult Patients, Phase 1/2 Study Shows
Amicus Therapeutics’s investigational therapy AT-GAA (ATB200/AT221) continues to show promise as a safe and effective treatment ...
Researchers Develop Cheap, More Sensitive Screening Test for Pompe Diagnosis, Study Reports
News
Researchers have proposed a cheap, simple, and more sensitive screening test to identify Pompe disease and differentiate it from other neuromuscular disorders. The study, “Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy,” was ... Read more