Updates

January 21, 2021January 21, 2021
NORD’s Caregiver Respite Program Continues Through Pandemic

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet ... Read more
January 20, 2021January 20, 2021
Chest MRI May Capture Respiratory Muscle Weakness at Early Stages

A chest MRI can be used to detect early signs of respiratory muscle weakness in people with Pompe disease, even when lung function is ... Read more
January 19, 2021January 19, 2021
Pompe Disease and Hearing

Hearing loss is a very common for infants with Pompe disease. It may also affect some people who develop Pompe disease later in life. Here ... Read more
January 13, 2021January 13, 2021
Patient-derived Nerve Cells May Help Advance Pompe Research

Newly developed nerve cells derived from patients could be used as a model to study neurological involvement in Pompe disease and test potential therapies, ... Read more
January 12, 2021January 13, 2021
NORD Seeks Speakers for 2021 Virtual ‘Living Rare, Living Stronger’ Forum

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual ... 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

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

Subscribe to our mailing list

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

Survey Finds COVID-19 Disrupted Care, Well-Being of Rare Disease Patients in Europe

Avalglucosidase Alfa, Next-gen ERT for Pompe, Under FDA Priority Review

Support Groups for Pompe Disease and Their Importance

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

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

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