Updates

August 5, 2020August 5, 2020
Phase 1/2 Trial of Gene Therapy AT845 Recruiting Patients With Late-onset Pompe

A Phase 1/2 clinical trial is recruiting adults with late-onset Pompe disease to test Audentes Therapeutics‘ investigational gene therapy AT845, the company has announced. The ... Read more
July 28, 2020July 28, 2020
High-protein Diet for Pompe Disease

Pompe disease is a rare disease in which glycogen, a complex sugar molecule, builds up in cells and tissues. This buildup interferes with function, ... Read more
July 22, 2020July 22, 2020
European Study: Myozyme Improves Walking, Respiratory Function in Adults With Pompe

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 ... Read more
July 21, 2020July 21, 2020
Treatment Plan for Pompe Disease

Pompe disease is a multisystem disorder that affects about one in 40,000 people in the U.S. Because it’s rare, many physicians are unfamiliar with ... Read more
July 16, 2020July 16, 2020
MDA’s Virtual Drug Development Meeting Brings Together Pompe Patients, Industry

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 ... Read more

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May 2, 2018May 2, 2018

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

Updates

Phase 1/2 Trial of Gene Therapy AT845 Recruiting Patients With Late-onset Pompe

High-protein Diet for Pompe Disease

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

Treatment Plan for Pompe Disease

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

Subscribe to our mailing list

How Can an Enzyme Activity Test Help Diagnose Pompe Disease?

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

FAQs About Pompe Disease and Exercise

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

Mindfulness for Pompe Disease Caregivers

Glc4 Is Potential Biomarker of Pompe Disease, Study Suggests

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

Prenatal Diagnosis for Pompe Disease

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

Coalition Will Address Racial Disparities in Rare Disease Communities

Reproductive Options if You Are a Pompe Disease Carrier

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

Genetic Testing for Pompe Disease: What to Expect

Lumizyme-Myozyme Given Early and at Higher Dose May Be Best for Infantile-onset Pompe

What Is Genetic Counseling and Why Is It Important in Pompe Disease?

Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

Plant-based ERT May Hold Promise in Pompe Disease, Small Study Suggests

Unity and EU-wide Efforts Focus of Online Rare Disease Meeting

Urinary Levels of Glc4 Abnormally High in Pompe Patients, Turkish Study Finds

Rare Diseases Clinical Research Network Opens Online Survey on COVID-19

The Pompe Disease Registry and How It Can Help Your Child

Raising Awareness of Late-onset Pompe Crucial to Fight Diagnosis Delay, Study Says

What to Expect from Physiotherapy When You Have Pompe Disease

Researchers Develop Cheap, More Sensitive Screening Test for Pompe Diagnosis, Study Reports

Phase 1/2 Trial of Gene Therapy AT845 Recruiting Patients With Late-onset Pompe

High-protein Diet for Pompe Disease

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

Treatment Plan for Pompe Disease

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

Subscribe to our mailing list

How Can an Enzyme Activity Test Help Diagnose Pompe Disease?

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

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

FAQs About Pompe Disease and Exercise

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

Mindfulness for Pompe Disease Caregivers

Glc4 Is Potential Biomarker of Pompe Disease, Study Suggests

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

Prenatal Diagnosis for Pompe Disease

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

Coalition Will Address Racial Disparities in Rare Disease Communities

Reproductive Options if You Are a Pompe Disease Carrier

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

Genetic Testing for Pompe Disease: What to Expect

Lumizyme-Myozyme Given Early and at Higher Dose May Be Best for Infantile-onset Pompe

What Is Genetic Counseling and Why Is It Important in Pompe Disease?

Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

Video Games Connect Chronically Ill Children Isolated at Home, Hospital

Plant-based ERT May Hold Promise in Pompe Disease, Small Study Suggests

Unity and EU-wide Efforts Focus of Online Rare Disease Meeting

Urinary Levels of Glc4 Abnormally High in Pompe Patients, Turkish Study Finds

Rare Diseases Clinical Research Network Opens Online Survey on COVID-19

The Pompe Disease Registry and How It Can Help Your Child

Raising Awareness of Late-onset Pompe Crucial to Fight Diagnosis Delay, Study Says

What to Expect from Physiotherapy When You Have Pompe Disease

Researchers Develop Cheap, More Sensitive Screening Test for Pompe Diagnosis, Study Reports