Latest News
Rapid Drug Desensitization With rhGAA Safe and Effective in Pompe Disease
LOPD Trial Results Revealed
Keynote Speaker of Muscular Dystrophy Conference Announced
Case Study Underscores the Importance of Newborn Screening in Pompe Disease
Select Patients With PD Do Not Respond to Alglucosidase Alfa
University of California Launches Registry of Patients With Lysosomal Storage Diseases
Genotype-Phenotype Correlation Demonstrated in Pompe Disease
Using the Win Ratio Approach Improves Analyses of Multiple Endpoints in PD Trial
Phase 1 Trial of Potential Oral Pompe Disease Treatment Completed
Optically Pumped Magnetometers Can Detect Muscle Damage in Pompe Disease
Avalglucosidase Alfa Reduces Risk of PD Noninvasive Ventilation
Posthoc Analysis Validates Benefits of Avalglucosidase Alfa in PD
High Resource Use and Disease Burden Associated With PD
Cipaglucosidase Alfa Shows Promising Results in Pompe Disease Management
Latest Clinical Trials
Insights
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.
Exploring the Parental Burden of Care of Children With Rare Diseases
The parental burden of care of children with rare diseases is considerable and deserves due attention and support.
Patient Perspectives
Set Goals When Living With Pompe Disease
Living with Pompe disease I feel like there’s always something to change or a goal to achieve.
Victory When All the Odds Are Stacked Against Rare Disease Patients
I have been living with Pompe for years, but it didn’t hold me back from fulfilling a life-long goal.
This Patient With Pompe Disease is Terrified of COVID
As a patient with Pompe Disease, I am terrified of catching COVID and literally any other virus.
A Pompe Patient’s Journey From Wheelchair to World Champ
I could never ever have imagined achieving athletic prominence with Pompe.
Pompe Disease Features
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.
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.
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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