Pompe disease, also known as Glycogen Storage Disease Type II, is a rare genetic disorder caused by the deficiency of the enzyme acid alpha-glucosidase, leading to the accumulation of glycogen in the body's cells. This buildup, particularly in muscle cells, results in progressive muscle weakness, respiratory difficulties, and in severe cases, heart problems. The disease varies in severity, with forms ranging from a rapidly progressive type in infants to a more gradual onset in children and adults.
Patients are the experts in their condition and advocacy groups provide a platform for patient voices. Working directly with these communities is the key to pushing research forward in an inclusive way.
Pompe disease, also known as glycogen storage disease type II, is a rare genetic disorder that affects the muscles and can have serious health implications. While it may not be widely recognized, understanding this condition is crucial for patients, advocates, and healthcare professionals alike. In this article, we will delve into the causes, symptoms, diagnosis, and treatment options for Pompe disease.
Read more...
We’ve committed to having 500,000 conversations in the next three years, to equip ourselves and our Pharma partners with the insights needed to increase predictability.
Read more...
The ever-growing investment in advocacy doesn’t appear to be slowing down, and research is certainly seeing the benefits. Which at the end of the day, means better patient care and more options for patients.
Read more...
We’re ready to keep forming links between our Advocacy friends and Pharma partners, so these fruitful relationships continue to evolve beyond the study-to-study view.
Read more...