Updates

September 23, 2020September 23, 2020
Immunomodulatory Regimen Provides Long-term Tolerance to ERT in Children With Pompe, Study Shows

Adding a preventive short-course immunomodulatory regimen — rituximab, methotrexate, and intravenous immunoglobulins (IVIG) — to enzyme replacement therapy (ERT) safely provides long-term protection from antibodies ... Read more
September 22, 2020September 22, 2020
Managing Scoliosis in Late-onset Pompe Disease

Late-onset Pompe disease can occur during a child’s largest phase of growth and development. This can have a major impact on how well the ... Read more
September 16, 2020September 16, 2020
Spark Resumes Enrollment Into SPK-3006 Clinical Studies for LOPD, Stopped for COVID-19

Spark Therapeutics has resumed enrollment into two international clinical studies testing SPK-3006, the company’s investigational gene therapy for Pompe disease. Recruitment of adults with ... Read more
September 15, 2020September 22, 2020
Planning for the Future if Your Family Is Affected by Pompe Disease

Receiving a Pompe disease diagnosis for you or your child can come as quite a shock. But now that you know, you may want to ... Read more
September 9, 2020September 9, 2020
Activities Underway for Newborn Screening Awareness Month

As it does each September during Newborn Screening Awareness Month, Baby’s First Test is sharing information and stories that highlight efforts throughout the U.S. to ... 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

Immunomodulatory Regimen Provides Long-term Tolerance to ERT in Children With Pompe, Study Shows

Managing Scoliosis in Late-onset Pompe Disease

Spark Resumes Enrollment Into SPK-3006 Clinical Studies for LOPD, Stopped for COVID-19

Planning for the Future if Your Family Is Affected by Pompe Disease

Activities Underway for Newborn Screening Awareness Month

Subscribe to our mailing list

Raising Awareness About Pompe Disease

Same But Different Photo Contest Celebrates People With Rare Diseases

Allergic Reactions to ERT Can Be Managed for Continued Treatment, Study Indicates

Skin Biopsy for Pompe Diagnosis: What to Expect?

Amicus on Track to Meet Milestones for AT-GAA, Other Therapies

Xperiome Platform Aims to Streamline Searches for Rare Diseases, Gain Patient Input

How Can Spirometry Help Track Pompe Disease Progression?

EveryLife Foundation Launches Scholarship Fund for Rare Disease Community in US

Significance of Clinical Trials for Pompe Disease

New Streaming Channel Showcases Rare Disease Films

Exercise Plus High-Protein Diet May Benefit LOPD Patients on Lumizyme

Electromyography (EMG) and Pompe Disease Diagnosis

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

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

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

Immunomodulatory Regimen Provides Long-term Tolerance to ERT in Children With Pompe, Study Shows

Managing Scoliosis in Late-onset Pompe Disease

Spark Resumes Enrollment Into SPK-3006 Clinical Studies for LOPD, Stopped for COVID-19

Planning for the Future if Your Family Is Affected by Pompe Disease

Activities Underway for Newborn Screening Awareness Month

Subscribe to our mailing list

Raising Awareness About Pompe Disease

Same But Different Photo Contest Celebrates People With Rare Diseases

Allergic Reactions to ERT Can Be Managed for Continued Treatment, Study Indicates

Skin Biopsy for Pompe Diagnosis: What to Expect?

Amicus on Track to Meet Milestones for AT-GAA, Other Therapies

Xperiome Platform Aims to Streamline Searches for Rare Diseases, Gain Patient Input

How Can Spirometry Help Track Pompe Disease Progression?

EveryLife Foundation Launches Scholarship Fund for Rare Disease Community in US

Significance of Clinical Trials for Pompe Disease

New Streaming Channel Showcases Rare Disease Films

Exercise Plus High-Protein Diet May Benefit LOPD Patients on Lumizyme

Electromyography (EMG) and Pompe Disease Diagnosis

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

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

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