International Pompe Day 2023
In observance of International Pompe Day, Rare Disease Advisor has curated this collection of content to illustrate the issues facing the Pompe disease community, highlight the advocacy work being done in the field to treat the disease, and share the valuable perspectives of Pompe patients worldwide.
Pompe Disease 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…
How My ‘Best Friends’ Helped Me Turn the Corner Battling Pompe
I have been living with Pompe disease for most of my adult life.
My Experience Transitioning to a New Drug for ERT
As a patient with Pompe disease, I have been doing enzyme replacement therapy (ERT) with the drug Lumizyme® for about 7 years.
Pompe, Other Rare Disease Patients Need to Find a Shoulder to Lean on
Recently I have been contacted by a few individuals whose siblings or friends have just been diagnosed with Pompe.
Preparing for Surgery With Pompe Disease
Here’s the thing about having surgery when you have Pompe, your surgeon doesn’t necessarily know about your disease.
The Effect of Avalglucosidase Alfa Evaluated in Pregnant Patients With PD
Cipaglucosidase alfa/Miglustat May Offer Long-term Efficacy for PD
CK-MM Levels May Help Identify Infantile-Onset Pompe Disease at Birth
Conjoint Fascial Sheath Suspension May Be Effective in Infantile-Onset PD
Muscle MRI May Be a Useful Biomarker for LOPD Diagnosis in Children
Be sure to visit Rare Disease Advisor’s Pompe Disease Junction for the latest Pompe news, perspetives, and insights on International Pompe Day and beyond.
Pompe Organizations Around the World
Find support and advocacy all over the world. #EveryMoveCounts