This study investigates the outcomes of patients with Mucopolysaccharidosis I (MPS I), a rare genetic disorder. MPS I is a condition where the body cannot properly break down certain sugar molecules, leading to various health problems. The purpose of this study is to collect data to understand the natural history …
This study investigates Pompe disease, a rare genetic disorder that affects the body's ability to break down a complex sugar called glycogen. The purpose of this study is to understand how Pompe disease progresses over time and how it varies among patients. This includes looking at patients who receive treatment …
This study investigates Fabry disease, a rare genetic condition that affects the body's ability to break down a specific type of fat. The purpose of this study is to track the health outcomes of people with Fabry disease over time, regardless of the treatment they receive. The study includes both …
This study investigates pregnancy outcomes in women with Pompe disease. Pompe disease is a rare genetic disorder that affects the body's ability to break down a complex sugar called glycogen, leading to muscle weakness and other health issues. The study does not involve any experimental treatments. Instead, it focuses on …
This study investigates pediatric patients with moderate to severe atopic dermatitis (AD), a skin condition causing red, itchy, and inflamed skin. The purpose is to understand the characteristics of these patients, especially when their condition is not well-managed with topical treatments, or when such treatments are not suitable.Participants will be …
This study investigates the effects of receiving an investigational vaccine during pregnancy or shortly before. The focus is on understanding how this vaccination might affect mothers and their babies, both during pregnancy and after birth.Participants in the study will be monitored throughout the pregnancy and the first year of the …
This study investigates the safety of an investigational medication taken by women during pregnancy and breastfeeding. The study aims to understand any risks this medication may have on pregnancy, as well as any complications or side effects it may cause in the developing baby, newborn, and infant. The study will …
This study investigates acid sphingomyelinase deficiency (ASMD), a rare genetic disorder that affects the breakdown of certain fats in the body, leading to their accumulation and causing harm to various organs. The purpose of this study is to observe and collect data on participants with ASMD without altering their treatment …
This study investigates the real-world use of an investigational medication in patients with hemophilia A, a condition where the blood does not clot properly due to the lack of a certain protein. The purpose of this study is to observe how this medication is used in the United States and …
This study investigates the long-term effects of an FDA-approved medication in patients with Stage 2 Type 1 Diabetes (T1D). Stage 2 T1D is an early stage of the disease where there are changes in blood sugar levels, but no clinical symptoms are present yet. If the disease progresses to Stage …
