Updates

November 19, 2020November 19, 2020
Latest NORD Webinar Offers Insights on Starting Nonprofit, Patient Registry

Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and ... Read more
November 18, 2020November 18, 2020
AVR-RD-03 Gene Therapy Reduces Toxic Glycogen Buildup in Pompe Mouse Model

AVR-RD-03, Avrobio‘s investigational gene therapy for classic infantile-onset Pompe disease, was found to reduce toxic glycogen accumulations to healthy levels in a mouse model of ... Read more
November 11, 2020November 11, 2020
Eye Movement Condition Nystagmus May Be Feature of Infantile Pompe, Report Shows

Nystagmus, a condition in which the eyes move rapidly and uncontrollably, may be a feature of infantile-onset Pompe disease, a new case report suggests. ... Read more
November 10, 2020November 10, 2020
Spoon Theory for Late-onset Pompe Disease Patients

If you have late-onset Pompe disease, you’re likely dealing with muscle weakness, aches, and cramps, and possibly headaches and fatigue. Many people may not ... Read more
November 5, 2020November 6, 2020
NORD Hosting ‘RareLaunch’ Workshops to Help Start Rare Disease Non-profits

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of ... 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

Latest NORD Webinar Offers Insights on Starting Nonprofit, Patient Registry

AVR-RD-03 Gene Therapy Reduces Toxic Glycogen Buildup in Pompe Mouse Model

Eye Movement Condition Nystagmus May Be Feature of Infantile Pompe, Report Shows

Spoon Theory for Late-onset Pompe Disease Patients

NORD Hosting ‘RareLaunch’ Workshops to Help Start Rare Disease Non-profits

Subscribe to our mailing list

Whole-body MRI Finds Early Muscle Deterioration in Pompe Children, Study Shows

Newborn Screening for Pompe Disease

Bayer Acquires AskBio and its Gene Therapy Program for Pompe Disease

Feeding Tubes for Pompe Disease

UK Organization ‘Same But Different’ Announces ‘Glimmer of Hope’ Photo Contest Winner

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

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?

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