Updates

October 21, 2020October 21, 2020
Novel Mouse Model of Pompe Shows Potential of New Gene Therapy

Scientists have created a new mouse model of Pompe disease that displays the severe respiratory impairments experienced by many patients but were never observed ... Read more
October 20, 2020October 20, 2020
Pompe Disease and Anesthesia

People with Pompe disease will likely need, at some point, to undergo medical procedures that require anesthesia. Here is information about the different forms ... Read more
October 19, 2020October 19, 2020
Telehealth ‘Helpful’ Alternative to In-person Care, Rare Disease Patients Say

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its ... Read more
October 14, 2020October 14, 2020
Limb Muscle Weakness Arises With Myozyme Use Over Time, Study Finds

Children with classic infantile Pompe disease treated for years with Myozyme (alglucosidase alfa, marketed as Lumizyme in the U.S) exhibit muscle weakness in their lower legs, feet, ... Read more
October 13, 2020October 13, 2020
Adaptive Equipment for Pompe Disease Patients

Pompe disease is characterized by progressive muscle weakness and disability. A number of adaptive devices are available to maintain patients’ quality of life. What ... 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

Novel Mouse Model of Pompe Shows Potential of New Gene Therapy

Pompe Disease and Anesthesia

Telehealth ‘Helpful’ Alternative to In-person Care, Rare Disease Patients Say

Limb Muscle Weakness Arises With Myozyme Use Over Time, Study Finds

Adaptive Equipment for Pompe Disease Patients

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Same But Different Asks Public to Vote on ‘Glimmer of Hope’ Calendar Photos

Avalglucosidase Alfa, Next-Generation ERT, Under Review in Europe

Pompe Disease and Surgery

Fertility Not Affected by LOPD, But Pregnancy Worsens Symptoms, Small Study Finds

Efforts Continue Beyond Awareness Month to Expand Newborn Screening Panels in US

Independent Living for People With Late-onset Pompe Disease

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

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

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