Pompe Disease News

January 13, 2021January 13, 2021

Patient-derived Nerve Cells May Help Advance Pompe Research

Pompe Disease News

Newly developed nerve cells derived from patients could be used as a model to study neurological involvement in Pompe disease and test potential therapies, a study reports. Notably, data from ... Read more

January 7, 2021January 7, 2021

Repurposed Deferoxamine Found to Counteract Effects of LOPD Gene Variant

Pompe Disease News

Deferoxamine, a medication normally used to remove excess iron and aluminum from the body, can counteract the effects of a disease-causing genetic variant often found in people with late-onset Pompe ... Read more

December 16, 2020December 16, 2020

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

Pompe Disease News

Patient-reported outcomes — particularly those related to general physical and arm function — effectively reflect disease severity in people with late-onset Pompe disease as assessed with validated clinical measures, a ... Read more

December 9, 2020December 10, 2020

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

Pompe Disease News

A CRISPR gene-editing approach was used to correct two distinct Pompe disease mutations and to develop computer simulations for optimizing gene therapies. These computer models may help scientists develop and ... Read more

December 2, 2020December 3, 2020

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

Pompe Disease News

Amicus Therapeutics is seeking U.S. approval of AT-GAA, its investigational therapy for late-onset Pompe disease. The company has begun a rolling submission of a biologics license application (BLA) to the U.S. Food and Drug Administration ... Read more

November 26, 2020November 26, 2020

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

COVID-19 News, Pompe Disease News

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a ... Read more

November 25, 2020November 25, 2020

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

Pompe Disease News

Sanofi Genzyme‘s application requesting the approval of avalglucosidase alfa, an investigational enzyme replacement therapy (ERT) for Pompe disease, was accepted and place under priority review by the U.S. Food and Drug Administration (FDA). An agency decision ... Read more

November 18, 2020November 19, 2020

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

Pompe Disease News

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 Pompe. These results, presented during an ... Read more

November 11, 2020November 11, 2020

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

Pompe Disease News

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. The report, “Nystagmus in Infantile Pompe ... Read more

November 4, 2020November 5, 2020

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

Pompe Disease News

Whole-body MRI found that a muscle in the shin is affected early on in children with either infantile or late-onset Pompe disease, a study shows. Such findings suggest earlier deterioration ... Read more

October 28, 2020October 28, 2020

Bayer Acquires AskBio and its Gene Therapy Program for Pompe Disease

Pompe Disease News

Bayer reached an agreement to acquire Asklepios BioPharmaceutical (AskBio), including its clinical program of ACT-101, an experimental one-time gene therapy for late-onset Pompe disease. AskBio, which will remain an independent entity, ... Read more

October 26, 2020November 28, 2020

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

Pompe Disease News

A photo of a bespectacled young boy, his red baseball cap slightly askew as he  enjoys time outside, will be featured on the front cover of an upcoming calendar in ... Read more

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 8, 2020November 8, 2020

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

COVID-19 News, Pompe Disease News

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 diseases, ... Read more