Gaucher Disease Type 1
Conditions
Keywords
Gaucher disease, Osteoporosis
Brief summary
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.
Detailed description
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.
Interventions
None listed
Sponsors
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
16 Years to 90 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Measure biomarkers level in molar/l/h | 18 months | Bone homeostasis is dependent on the balance of deposition by osteoblasts DMP-1, OSCAR, Calcitonin, Lyso-GB1, chitotriosidase, CCL18, osteocalcin, BALP, cathepsin K , TRAP 5, RANKL, OPG, DDK-1, sclerostin, MCP1, IL-2, IL-6, IL-10, SRTH2 and TNF-α |
| Measure biomarkers level: molar/mg/h | 18 months | DMP-1, RANK, OSCAR, cathepsin K, OPG |
Countries
United States
Contacts
Primary ContactJacqueline Fikry
Backup ContactMargarita Ivanova, PhD
Outcome results
None listed