News

October 14, 2020October 14, 2020

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

News

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, and hands in addition to ... Read more

October 8, 2020October 8, 2020

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

News, syndicated

Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare ... Read more

October 7, 2020October 7, 2020

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

News

The European Medicines Agency agreed to begin reviewing Sanofi Genzyme’s application requesting the approval of avalglucosidase alfa, its investigational enzyme replacement therapy (ERT) for people with Pompe disease. According to a ... Read more

September 30, 2020September 30, 2020

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

News

Fertility in women is not affected by late-onset Pompe disease (LOPD), but pregnancy may initiate or worsen symptoms, a small study found. The study, “Pregnancy Outcomes in Late Onset ... Read more

September 29, 2020September 29, 2020

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

News, syndicated

It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they ... Read more

September 23, 2020September 23, 2020

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

News

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 that can block ERT’s effectiveness ... Read more

September 16, 2020September 16, 2020

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

News

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 late-onset Pompe disease (LOPD) into ... Read more

September 9, 2020September 9, 2020

Activities Underway for Newborn Screening Awareness Month

News, syndicated

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 bring attention to newborn testing. ... Read more

September 3, 2020September 3, 2020

Same But Different Photo Contest Celebrates People With Rare Diseases

News, syndicated

Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme ... Read more

September 2, 2020September 2, 2020

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

News

Children receiving enzyme replacement therapy (ERT) for Pompe disease often experience immune reactions to treatment, presenting as rashes or severe allergy, sometimes after several successful infusions, a case series shows. ... Read more