- active not recruitingPHASE1, PHASE2
A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)
This study is testing a new medicine called SPK-3006 for adults with late-onset Pompe disease. It aims to see if it's safe and helps improve the condition. Participants will receive one dose of the new medicine and will be carefully checked.
United States · Canada · Denmark - recruiting
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
This study in the Normandie region of France is looking for babies between 1 and 4 days old. We want to find out how common two rare conditions, MPS1 and Pompe disease, are in newborns. We'll do this by testing dried blood samples collected at birth, similar to the routine newborn screening.
France