Updates

February 24, 2021February 24, 2021
Early ERT Key in Severe Classic Infantile Pompe

Early treatment with enzyme replacement therapy (ERT) and immune tolerance induction (ITI) greatly improved clinical outcomes for infants with the severe, frequently ERT-nonresponsive, CRIM-negative infantile Pompe ... Read more
February 23, 2021February 23, 2021
Shoshin for Adults Living With Pompe Disease

If you have a chronic disease such as late-onset Pompe disease, a Japanese concept called shoshin may help you to perceive the world, and ... Read more
February 22, 2021February 22, 2021
Rare Disease Day at NIH, Set for March 1, Growing Year by Year

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, ... Read more
February 18, 2021February 18, 2021
Eurordis Survey: Healthcare Experience Worse for Rare Disease Patients

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted ... Read more
February 17, 2021February 17, 2021
Amicus Updates Data from AT-GAA Phase 3 PROPEL Trial

Treatment with AT-GAA, an investigational therapy for late-onset Pompe disease, led to improvements in measures of physical and lung function in the Phase 3 clinical ... 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

Early ERT Key in Severe Classic Infantile Pompe

Shoshin for Adults Living With Pompe Disease

Rare Disease Day at NIH, Set for March 1, Growing Year by Year

Eurordis Survey: Healthcare Experience Worse for Rare Disease Patients

Amicus Updates Data from AT-GAA Phase 3 PROPEL Trial

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Pompe Disease Advocacy

Pandemic Won’t Stop Rare Disease Day on Feb. 28

Ventilation for Pompe Disease – What You Need to Know

First Patient Dosed in Gene Therapy Trial for LOPD

NORD’s 6th ‘State Report Card’ Notes Progress, Raises Concerns

FAQs About Lumizyme for Pompe Disease

Large-scale Blood Analysis Identifies Protein, Lipid Changes in Pompe

Respite Care for Pompe Disease

COVID-19 Vaccines Pose Little Risk to Rare Disease Patients, FDA, CDC Say

NORD’s Caregiver Respite Program Continues Through Pandemic

Chest MRI May Capture Respiratory Muscle Weakness at Early Stages

Pompe Disease and Hearing

Patient-derived Nerve Cells May Help Advance Pompe Research

NORD Seeks Speakers for 2021 Virtual ‘Living Rare, Living Stronger’ Forum

Treatment Team for Late-onset Pompe Disease

Repurposed Deferoxamine Found to Counteract Effects of LOPD Gene Variant

Multidisciplinary Treatment Team for Infantile-Onset Pompe Disease

Psychological Support for Patients and Families Affected by Pompe Disease

Patient-reported Outcomes Capture Disease Severity in Late-onset Pompe, Study Finds

Recreational Therapy for Late-onset Pompe Disease

Computer Simulations Could Help Design Gene Therapies for Pompe, Study Suggests

Massage Therapy for Pompe Disease

NORD Push for Rare Disease Advisory Councils Focus of Dec. 16 Public Meeting

Amicus Begins Rolling FDA Submission to Advance AT-GAA Therapy for LOPD

Pompe Disease and Sleep

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