The Pompe Disease Content Hub Channel
Clinical Viewpoint on Newly Approved Combination Therapy for Pompe Disease
July 5, 2024 • Pompe Disease Content Hub
In this webinar, we delve into the advancements in Pompe disease treatment, particularly focusing on the progression from mouse models to clinical trials. Key developments include the testing…
Muscular Dystrophy Association – Virtual Learning Pompe Disease
June 13, 2024 • Pompe Disease Content Hub
Dr. Tahseen Mozaffar, clinical professor of neurology at the University of California Irvine, presents a webinar on Pompe Disease. Learn about the latest advancements in diagnosis, treatment options,…
Recent Videos in Pompe Disease Content Hub Page 2
Use of Electronic Health Records to Assess Risk for Lysosomal Storage Disease
February 23, 2022 • Pompe Disease Content Hub
@DNADirectedDawn, of @EmoryGCTP, discusses severity #scoring systems as #screening for #lysosomalstoragediseases.
Muscle Function Assessment in Pompe Disease
February 6, 2022 • Pompe Disease Content Hub
Jordi Diaz-Manera, MD, PhD, of @jwmdrc, discusses #muscle function and #QoL in #PompeDisease.
Current State of Knowledge Regarding Pompe Disease
February 6, 2022 • Pompe Disease Content Hub
John Crowley, of @amicusrx1, discusses current knowledge regarding #PompeDisease.
Patient Data Collected at Home Is Reliable for Assessing Progression in Pompe Disease
October 3, 2021 • Pompe Disease Content Hub
Researchers from Duke University report that QMUS and hEIM are associated with muscle strength and function in #Pompe disease.
Benefits of a Combined Approach for Diagnosing Pompe Disease
September 21, 2021 • Pompe Disease Content Hub
Researchers from Université de Sherbrooke, Canada, report that reflex enzymatic testing may help confirm or rule out a #diagnosis of #Pompe disease.
Early ERT May Improve Hearing Outcomes Among Patients With Infantile-Onset Pompe Disease
September 21, 2021 • Pompe Disease Content Hub
Researchers from National Yang Ming Chiao Tung University, Taipei, Taiwan, report that #ERT decreases #hearingimpairment in #Pompe disease.
The Identification of Novel GAA Mutations in Pompe Disease
September 21, 2021 • Pompe Disease Content Hub
Paula Hernández-Arévalo, of Hospital Universitario Virgen del Rocío, Seville, Spain, and colleagues identified 4 new pathogenic variants of #Pompe disease.
New Findings Suggest Pompe Disease Is More Common Than Previously Thought
September 21, 2021 • Pompe Disease Content Hub
Kyung Sun Park, of Kyung Hee University Medical Center, discusses updated estimates of #Pompe disease, demonstrating increased #incidence.
The Use of MRI in the Diagnosis and Follow-Up of Pompe Disease
August 11, 2021 • Pompe Disease Content Hub
Jordi Díaz-Manera, MD, PhD, of @jwmdrc, discusses the use of #muscle #MRI in #PompeDisease.
Promising New Enzyme Replacement Therapy for Late-Onset Pompe Disease
July 17, 2021 • Pompe Disease Content Hub
Priya Kishnani, MD, from @DukeMedSchool, discusses the use of #avalglucosidase alfa in late-onset #PompeDisease.