Integrated Observational Study of Gaucher Disease Types 1, 2, and 3 Focusing on Lung, Bone, and Parkinsons Symptoms with Standard Treatments

What this Trial Is About

Researchers are studying Gaucher disease, a condition affecting various body systems, focusing on its natural history, clinical outcomes, and biological features in patients receiving standard medical care. The study aims to better understand the disease progression in different types of Gaucher disease, including Type 1 non-neuronopathic, Type 2 acute neuronopathic, and Type 3 chronic neuronopathic. Specific goals include investigating lung and lymphatic involvement in neuronopathic types, refractory skeletal disease, and the overlap between Gaucher disease and Parkinsons disease. Participants are grouped based on disease subtype and symptoms. One group includes patients with neuronopathic Gaucher disease Type 2 or 3 who have lung disease or significant lymph node enlargement. Another includes individuals aged 10 to 75 years with persistent bone disease despite long-term treatment. A third group involves adults with Gaucher disease showing signs of Parkinsons disease. All participants receive standard-of-care therapy, and the study observes their clinical progress over time. During the study, participants undergo evaluations at baseline and at 6, 12, 24, and 36 months. These assessments include measuring lung and lymphatic disease burden, oxygen needs, lung function, bone marrow involvement, bone density, fracture occurrences, neurological symptoms, and Parkinsons-related imaging scores. Blood tests track biomarkers related to inflammation and disease activity. The study also monitors safety and disease progression, providing comprehensive data on Gaucher disease under usual medical treatment over a three-year period.

Advancing Integrated Therapies for Gaucher Disease