This study investigates Gaucher disease, aiming to understand its variability and progression to improve therapeutic interventions.The study also focuses on evaluating pregnancy outcomes in women with Gaucher disease. It aims to track complications and infant growth to enhance patient care.Who can participate: Adults and children with confirmed Gaucher disease can …
This study investigates Pompe disease, a rare genetic disorder. The study focuses on understanding how Pompe disease progresses and varies among individuals. It also aims to evaluate the long-term outcomes of individuals with this condition, whether they receive treatment or not.Who can participate: Individuals of any age with a confirmed …
This study investigates Fabry disease, focusing on observing and collecting data on individuals diagnosed with the condition, regardless of their treatment status, to better understand the disease's progression and impact.The study aims to gather information on the safety and effectiveness of treatments for Fabry disease, as well as to track …
This study investigates the pregnancy outcomes in women with Pompe disease. The purpose of this study is to track outcomes during pregnancy, including complications and infant growth, for women with this condition.The study focuses on understanding how pregnancy progresses in women with Pompe disease, whether they receive disease-specific treatments or …
