Immune Biomarkers Related to Bone Pathology in Patients With Type 1 Gaucher Disease
试验速览
- 阶段
- 不适用
- 入组人数
- 40
- 试验地点
- 1
- 主要终点
- Measure biomarkers level in molar/l/h
研究概览
简要总结
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.
详细描述
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:
- Identify novel immune cell surface and biochemical markers in peripheral blood correlating with bone involvement in GD.
- Assess the correlation between cytokine levels in peripheral blood and the severity of bone involvement in GD.
- Assess the relationship between glycosphingolipids accumulation and macrophage activation with specific bone markers and GD severity.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 16 Years 至 90 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •To be enrolled in this study the subject must meet the following criteria
- •Subject is greater than 16 years old but not older than 90 years
- •Signed Informed Consent/Assent
- •Subject is able and willing to sign informed consent or assent
- •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
排除标准
- •a) Have evidence of hepatitis B, hepatitis C infection or any other chronic infectious disease b) Be pregnant or breastfeeding
结局指标
主要结局
Measure biomarkers level in molar/l/h
时间窗: 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
时间窗: 18 months
DMP-1, RANK, OSCAR, cathepsin K, OPG
次要结局
未报告次要终点