Updates

July 1, 2020July 1, 2020
Myozyme at Higher Dose More Effective for Classic Infantile Pompe, Study Says

Children with classic infantile Pompe disease on higher and more frequent doses of Myozyme (alglucosidase alfa) live longer without needing respiratory support, and have ... Read more
June 30, 2020June 30, 2020
Mindfulness for Pompe Disease Caregivers

As the caregiver of someone with Pompe disease, you know how physically and emotionally draining it can be to help your loved one with ... Read more
June 24, 2020June 24, 2020
Glc4 Is Potential Biomarker of Pompe Disease, Study Suggests

Measuring the urinary levels of a particular sugar molecule called tetraglucose (Glc4) could be useful for diagnosing Pompe disease, a study from France suggests. ... Read more
June 22, 2020June 22, 2020
Alexion Charitable Foundation Giving $1.1M to Assist Rare Disease Community During Pandemic

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 ... Read more
June 22, 2020June 23, 2020
Prenatal Diagnosis for Pompe Disease

If you are at risk of transmitting Pompe disease to your children, you may be thinking about your reproductive options and interested in prenatal ... 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

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

Subscribe to our mailing list

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

NORD Webinar Outlines COVID-19 Response on Financial, Policy Fronts

NORD Webinar Outlines COVID-19 Response on Financial, Policy Fronts

Industry leaders seek to advance innovative resources for rare and orphan disease communities amid COVID-19 outbreak

Surge in Telemedicine One ‘Good’ Outcome from COVID-19 Crisis, Doctors Say

What’s an IEP, and How Can It Help Children with Pompe Disease?

NORD Opens COVID-19 Financial Aid Program for Rare Disease Community

Axovant, Invitae Offering Free Genetic Testing, Counseling for Lysosomal Storage Diseases

Muscle MRI Reveals Deterioration in Late-onset Pompe Patients, Study Says

Pompe Disease and Pregnancy

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

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

Subscribe to our mailing list

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

NORD Webinar Outlines COVID-19 Response on Financial, Policy Fronts

NORD Webinar Outlines COVID-19 Response on Financial, Policy Fronts

Industry leaders seek to advance innovative resources for rare and orphan disease communities amid COVID-19 outbreak

Surge in Telemedicine One ‘Good’ Outcome from COVID-19 Crisis, Doctors Say

What’s an IEP, and How Can It Help Children with Pompe Disease?

NORD Opens COVID-19 Financial Aid Program for Rare Disease Community

Axovant, Invitae Offering Free Genetic Testing, Counseling for Lysosomal Storage Diseases

Muscle MRI Reveals Deterioration in Late-onset Pompe Patients, Study Says

Pompe Disease and Pregnancy

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