Latest News
High-Specific Activity Variants Identified for PD Therapy
Long-Term Effects of ERT on Cardiac Function in Patients With Pompe Disease Explored
Understanding Health State Utility Values for Late-Onset Pompe Disease
Cipaglucosidase alfa/Miglustat May Offer Long-term Efficacy for PD
Potential Gene Therapy for Pompe Disease Yields Promising Results in Phase 1 Trial
Case Study Describes Anesthetic Management of a Patient with PD
Case Study Highlights Importance of Early Diagnosis and Treatment in PD
CK-MM Levels May Help Identify Infantile-Onset Pompe Disease at Birth
Novel Chaperone May Be Superior for ERT in PD
The Effect of Avalglucosidase Alfa Evaluated in Pregnant Patients With PD
Two Cases of Pompe Disease Reported in Jordan
Muscle MRI May Be a Useful Biomarker for LOPD Diagnosis in Children
Proposed Spectrometry Method May Detect PD Biomarkers
Morphologic Assessment of Bone Marrow Biopsy May Help Diagnose LSDs
Latest Clinical Trials
Insights
Pharmacological Chaperone Therapy May Be Useful in Pompe Disease Care
Pharmacological chaperones hold tremendous potential in helping us get a step closer to finding a cure for Pompe disease.
Treating Lysosomal Storage Diseases: More Options at Hand but Challenges Remain
Enzyme therapy for lysosomal storage diseases has evolved recently; however, current enzyme therapies have limitations.
Whole-Body Vibration Improves Muscle Function in Patients With Pompe Disease
One of the most considerable challenges the medical world will face in the next few decades is addressing the question of how we continue providing equitable treatment to all patients, regardless of income or status, as populations continue to grow and the purse strings for health care expenditure become tighter. Already we are seeing a…
Drug Repurposing: A Novel Strategy for a Deeply Unequal World
The belief driving drug repurposing is that the current drugs that we do have may yet possess therapeutic aspects we aren’t fully aware of.
Patient Perspectives
How My ‘Best Friends’ Helped Me Turn the Corner Battling Pompe
I have been living with Pompe disease for most of my adult life.
Being Rare and Balancing Normality With Everyone Else’s Standards
I have been diagnosed with Pompe disease, which is a disease that lacks the enzyme that breaks down the glycogen.
The Effects of Insomnia on Pompe Disease Explored
Even with Pompe Disease, my body learns to adapt.
Why the MDA Shamrock Is Nothing Short of Sensational
In the last 40-plus years, March has been a time of great significance for the Muscular Dystrophy Association (MDA).
Pompe Disease Features
Omidubicel Shows Promise as Replacement for Umbilical Cord Blood in Stem Cell Transplants
Gamida Cell is gearing up to begin sales of omidubicel from Israel to US hospitals for use in stem cell transplants, pending FDA approval of the therapy.
At 40, Orphan Drug Act Enjoys Rare Bipartisan Support
Rare disease advocates are marking the 40th anniversary of the landmark Orphan Drug Act, which has led to over 1100 approvals for new therapies.
Ambitious NCATS Bespoke Gene Therapy Consortium Targets Ultrarare Diseases
The Bespoke Gene Therapy Consortium (BGTC) is an ambitious public-private partnership that aims to develop gene therapies for ultrarare diseases.
EveryLife Foundation Navigates Complex Issues to Advocate for Rare Disease Patients
The EveryLife Foundation for Rare Diseases pushes a legislative agenda aimed at benefitting the 30 million Americans with a rare disease.
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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