This study investigates atopic dermatitis (AD) in children, focusing on those with moderate to severe forms of the condition. Atopic dermatitis is a chronic skin condition characterized by itchy and inflamed skin. The study aims to understand the characteristics of these pediatric patients, especially when their condition is not well …
This study investigates the natural history and outcomes of Pompe disease, a rare genetic disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The purpose of this study is to enhance understanding of the variability, progression, and identification of Pompe disease, while also characterizing …
This study investigates Fabry disease, a rare genetic disorder that affects the body's ability to break down a specific type of fat. The purpose of this study is to observe the natural history and variability of Fabry disease in patients, including heterozygous females, without altering their treatment. An observational study …
This study investigates Gaucher disease, a genetic disorder where fat-laden Gaucher cells build up in areas like the spleen, liver, and bone marrow. The purpose of this observational study is to track the clinical outcomes of patients with Gaucher disease. An observational study is a type of research study where …
This study investigates Mucopolysaccharidosis I (MPS I), a rare genetic disorder caused by the body's inability to produce a specific enzyme, leading to a buildup of complex sugars in the body. The purpose of this observational study is to collect data on patients with MPS I to understand the natural …
