A Long-term Follow-up Study of Gaucher Disease

What this Trial Is About

Researchers are studying Gaucher disease to understand its long-term effects, evaluate how well treatments like enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) work over time, and identify possible complications. This observational study involves reviewing health records of individuals with all three types of Gaucher disease to gather detailed information. The study is led by Dr. Kishnani at Duke University, a specialist in this condition. Participants' health information will be collected systematically from medical records, both from Duke and other treating physicians. The study does not change the usual care patients receive. Researchers will monitor health status at least once a year, depending on when medical information becomes available from treating doctors. The study includes long-term follow-up to observe the course of the disease and treatment outcomes. During the study, researchers will document how Gaucher disease affects various body systems such as the nervous system, liver, and spleen over a period of 10 years. They will also record any adverse events related to ERT or SRT and track long-term complications. Participants will complete surveys and screenings every six months to a year to assess their health and neurological symptoms. This ongoing monitoring helps provide a comprehensive understanding of the disease's progression and treatment effects.

A Long-term Follow-up Study of Gaucher Disease