Latest News
A Rare Case of Pompe Disease and Congenital Myasthenic Syndrome
Longer Walk Distance Correlated With Improved Outcomes in Pompe Study
Case Reports: Low GAA Activity Not Always Caused By Pompe Disease
Genome Editing Restores GAA Function in Patient With IOPD
Real-Life Data Show Risk of Contracting COVID-19 in Pompe Disease
Nutritional Cotherapy Attenuates Muscle Pathology in Pompe Disease
New Cell Lines Useful for Screening Gene Therapies for Pompe Disease
ERT Is Safe but With Variable Effectiveness in Pompe Disease, Study Says
Novel ELISA Method Determines PGB Levels in Pompe Disease
Electrochemical Immunosensor Aids in Early Diagnosis of Pompe Disease
Hematological Alterations as Diagnostic Biomarkers in Pompe Disease
Activation of BNIP3 Linked With Muscle Atrophy in Pompe Disease
Avalglucosidase Alfa for Pompe Disease Well-Tolerated in Long-Term Study
AVR-RD-03 Reduces Glycogen in Pompe Disease Study
Latest Clinical Trials
Insights
Epidemiological Studies Seek to Increase Understanding of Pompe Disease
Epidemiologists are increasingly conducting studies on a global scale to understand the true prevalence of Pompe disease.
The Relationship Between Inborn Errors of Metabolism and Pediatric Dental Disorders
We shine a spotlight on a lesser-known implication of inborn errors of metabolism: dental effects that require treatment by a dentist.
Epidemiological Studies Highlight Differences in Pompe Disease Research
Putting 2 very different epidemiological studies side by side shows the difference between the tools at the researchers’ disposal.
The Enduring Value of the 6MWT in Measuring Pompe Disease Motor Outcomes
Researchers reviewed the effectiveness of the 6-minute walk test as a measurement of motor deterioration in Pompe disease.
Patient Perspectives
How I Turned a Pompe Diagnosis Into a Challenge I Would Not Walk Away From
A diagnosis of Pompe disease can take years and patients suffer with pain and weakness in the meantime.
Living With Pompe Amplifies the Need to Prepare for Nature’s Wrath
Once I had to go to the hospital just for electricity to plug in my breathing machine because a thunderstorm knocked out my power.
The Effectiveness of Pompe, Other Rare Disease Treatment Varies Greatly Across the Globe
It is very clear to me that Pompe disease patients from overseas, especially America and the United Kingdom, have superior medical options.
Why I Have a Positive Outlook on the Future of Pompe Disease Treatment
Pompe disease was discovered in the early 1930s when infants died months after birth from weak hearts.
Pompe Disease Features
Parents of South Dakota Boy With Pompe Disease Push for Nationwide Newborn Screening
Meg and Christopher Haberman, whose son Isaac has Pompe disease, are strong advocates for nationwide newborn screening for Pompe.
MDA 2022 Conference to Focus on Promising Therapies for SMA, DMD
Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) will take center stage at the first in-person annual gathering of the Muscular Dystrophy Association (MDA) since March 2019.
Israel Emerges as Global Powerhouse in Rare Disease Research
When it comes to rare disorders, Israel—a New Jersey-sized nation of 9.3 million that’s made headlines this year for its highly successful coronavirus vaccination campaign—is clearly an emerging powerhouse.
Scientists Continue Pursuit of Gene Therapy for Pompe Disease as Second ERT Nears Launch
Researchers are racing to develop a gene therapy for Pompe disease, even as Sanofi Genzyme prepares to market avalglucosidase alfa-ngpt (Nexviazyme®) for patients at least 1 year old with the late-onset version of the illness. Until the US Food and Drug Administration approved avalglucosidase alfa on August 6, 2021, the only other drug cleared to treat…
Rare Care Podcast
Barry Byrne, MD, director of the University of Florida’s Powell Gene Therapy Center in Gainesville, has spent years researching potential gene therapies for Pompe disease. In this edition of the Rare Care podcast, Dr. Byrne comments on the FDA’s recent approval of avalglucosidase alfa-ngpt (Nexviazyme) to treat Pompe, as well the future of gene therapies in treating the disease.
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