Natural History and Treatment of Gaucher Disease
ID Number 93-0049Principal Investigator(s)
Department(s) or Division(s)
Genetics and Genomic Sciences
Gaucher Disease Treatment Center
The purpose of this study is to learn about the "natural history" of Gaucher disease: how and why it progresses over time. Gaucher disease affects different people in different ways. In some, it results in severe ill health, but in others, there is only mild or even no effects of the disease. We do not understand why people differ so greatly, and this study will help us understand why this happens so that we can improve the treatment of people with Gaucher disease. Another goal is to learn about the effects of treatments, including enzyme replacement and substrate reduction, and to find out how best to use this treatment.
Patients may qualify to take part in this research study, if they have Gaucher disease.
Manisha Balwani, MD, MS
Recruiting Patients: Yes