International Pompe Day 2022
Pompe Day is wrapping up soon for another year. It’s important to point out that for Pompe families, Pompe Day is 365 days long.
Rare Disease Day 2022
We still live in a world where there are over 300 million people living with over 6,000 rare diseases. That’s enough to populate the 3rd largest country in the world. We have the tools to diagnose them quicker, but we aren’t doing it.
Maze Therapeutics Starting Phase I Clinical Trial with MZE001, A Substrate Reduction Therapy
Recently, preclinical data were presented at the 18th Annual WORLDSymposium in San Diego, CA, supporting MZE001 as a treatment for Pompe disease.
Pompe Empowerment Program (PEP) 2022
Starting Jan 16, 2022, this online series brings together Pompe disease families and other experts in five 2-hr sessions over 11 days.
Avalglucosidase Alfa (Nexviazyme™) approved by Health Canada
Health Canada has approved avalglucosidase alfa (Nexviazyme™) for the long-term treatment of late-onset Pompe disease in patients over the age of 6 months.
FDA approves Nexviazyme® (avalglucosidase alfa-ngpt)
In a recent announcement, the Pompe disease community learned that the U.S. Food and Drug Administration (FDA) has approved Nexviazyme® for the treatment of late-onset Pompe patients that are one year old and older.
Amicus Remains Hopeful about AT-GAA Despite Mixed Results from Phase 3 Study
Amicus Therapeutics recently announced topline results of its phase 3 PROPEL study of its combination therapy, AT-GAA, for the treatment of late onset Pompe disease (LOPD).
Spark Therapeutics Has Begun a Phase 1/2 Gene Therapy Study for Late-Onset Pompe Disease
The Spark Therapeutics phase 1/2 gene therapy trial testing SPK-3006 to treat late onset Pompe disease has officially started with the first person being given their first (and theoretically only) dose.
Amicus Therapeutics Has Begun the FDA Submission for Their Pompe Drug, AT-GAA
Amicus Therapeutics has announced they have begun a rolling Biologics License Application (BLA) to the U.S. Food and Drug Administration (FDA) for their drug combination, AT-GAA, to treat late onset Pompe disease (LOPD).
New Review Article Highlights Latest Developments in Pompe Disease Research
An excellent review article focused on the latest developments in Pompe disease research was recently published by Naresh K. Meena and Nina Raben from the NIH.