Pompe Disease News

October 21, 2020October 21, 2020

Novel Mouse Model of Pompe Shows Potential of New Gene Therapy

Pompe Disease News

Scientists have created a new mouse model of Pompe disease that displays the severe respiratory impairments experienced by many patients but were never observed in other animal models of the ... Read more

October 14, 2020October 14, 2020

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

Pompe Disease 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 the ... Read more

October 7, 2020October 7, 2020

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

Pompe Disease 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 press ... Read more

September 30, 2020September 30, 2020

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

Pompe Disease 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 Pompe ... Read more

September 23, 2020September 23, 2020

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

Pompe Disease 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 in ... Read more

September 16, 2020September 16, 2020

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

COVID-19 News, Pompe Disease 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 both ... Read more

September 9, 2020September 9, 2020

Activities Underway for Newborn Screening Awareness Month

Pompe Disease News

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. Baby’s ... Read more

September 2, 2020September 3, 2020

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

Pompe Disease 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. While ... Read more

August 26, 2020August 26, 2020

Amicus on Track to Meet Milestones for AT-GAA, Other Therapies

Pompe Disease News

Amicus Therapeutics remains on track to announce top-line data from PROPEL — a Phase 3 trial of AT-GAA for the treatment of late-onset Pompe disease — in the first half of 2021, and ... Read more

August 26, 2020September 28, 2020

Xperiome Platform Aims to Streamline Searches for Rare Diseases, Gain Patient Input

Pompe Disease News

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input ... Read more

August 18, 2020September 19, 2020

EveryLife Foundation Launches Scholarship Fund for Rare Disease Community in US

Pompe Disease News

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The ... Read more

August 13, 2020September 13, 2020

New Streaming Channel Showcases Rare Disease Films

COVID-19 News, Pompe Disease News

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films ... Read more

August 12, 2020August 12, 2020

Exercise Plus High-Protein Diet May Benefit LOPD Patients on Lumizyme

Pompe Disease News

Combining exercise training with a high-protein diet improves exercise tolerance, pulmonary function, and quality of life among late-onset Pompe disease (LOPD) patients taking Lumizyme (alglucosidase alfa) for years, a small ... Read more

August 5, 2020August 6, 2020

Phase 1/2 Trial of Gene Therapy AT845 Recruiting Patients With Late-onset Pompe

Pompe Disease News

A Phase 1/2 clinical trial is recruiting adults with late-onset Pompe disease to test Audentes Therapeutics‘ investigational gene therapy AT845, the company has announced. The trial (NCT04174105) will be conducted at ... Read more

July 22, 2020July 22, 2020

European Study: Myozyme Improves Walking, Respiratory Function in Adults With Pompe

Pompe Disease News

Treatment with Myozyme (alglucosidase alfa, marketed as Lumizyme in the U.S.) improves walking ability and may stabilize respiratory function in adults with Pompe disease during the first three years of treatment, according to a recent ... Read more