Glycogen Storage Disease Type II research hub
5 indexed studies · 4 currently recruiting
- recruiting
Pompe Disease Registry Protocol
This registry tracks people with Pompe disease globally. It helps us understand the condition better, how it changes over time, and the effects of treatments. The goal is to improve care for everyone with Pompe disease.
United States · Argentina · Australia - recruiting
Using advanced MRI scans and muscle function tests to study muscle changes in adults with Pompe disease receiving enzyme replacement therapy
The PRISM study looks at whether advanced MRI scans can track muscle changes in adults with late-onset Pompe disease. Researchers will compare people having routine enzyme therapy with healthy volunteers over two years in Newcastle. The study does not change any treatments but aims to improve future care and monitoring.
United Kingdom · England - 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 - recruitingPHASE2
Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
This study is testing a new medicine, S-606001, for people with late-onset Pompe disease who are already on treatment. It looks at how safe the new medicine is, how it works in the body, and if it helps improve symptoms.
United States · Belgium · Denmark - recruiting
A Global Prospective Observational Registry of Patients With Pompe Disease
This study is gathering information on people with Pompe disease, both those receiving treatment and those not yet treated. It aims to understand how treatments affect health and daily life over time, and what happens when the disease is untreated.
United States · Austria · Belgium