Bone-related problems represent the principal unmet medical need in Gaucher disease (GD). 75% of GD type 1 patients develop skeletal complications, including bone remodeling defects, osteopenia, osteoporosis, marrow infiltration, avascular necrosis, and osteolysis. However, the underlying cellular/molecular basis of bone involvement and related complications in GD are not fully known. Neither are there any bone-specific markers associated with individual bone pathology. Early diagnosis of bone disease is the key issue for planning individual therapy to prevent and reverse bone disease in GD.

This clinical observational study is designed to identify specific biomarkers for bone involvement in patients with GD1 with decreased bone density and/or bone structural abnormalities

Aims:

1. Identify novel immune cell surface and biochemical markers in peripheral blood correlating with bone involvement in GD.
2. Assess the correlation between cytokine levels in peripheral blood and the severity of bone involvement in GD.
3. Assess the relationship between glycosphingolipids accumulation and macrophage activation with specific bone markers and GD severity.

Inclusion Criteria:

• To be enrolled in this study the subject must meet the following criteria

  1. Subject is greater than 16 years old but not older than 90 years

  2. Signed Informed Consent/Assent

  3. Subject is able and willing to sign informed consent or assent

  4. If the subject has GD1, the must have a confirmed diagnosis of Gaucher disease by

     • GCase enzyme activity
     • DNA analysis demonstrating pathogenic variants in the GBA gene

Exclusion Criteria:

• a) Have evidence of hepatitis B, hepatitis C infection or any other chronic infectious disease b) Be pregnant or breastfeeding

Clinically confirmed GD1 patients will be stratified based on their disease severity and bone density findings.