Omics Gaucher Study: Multiomic Approach To Describe The Gaucher Disease Treatment Dynamics In Comparison To Untreated Healthy Volunteers
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 25
- 试验地点
- 1
- 主要终点
- OMICS DATA
研究概览
简要总结
The study aims to investigate the transcriptomic and metabolomic changes in blood, plasma and isolated monocytes from Gaucher patients and healthy controls.
详细描述
Gaucher disease is one of the most common lysosomal storage disorders (LSD) and is an autosomal recessive inherited disorder, primed by mutation in the GBA1 gene which leads to a deficiency in β-glucocerebrosidase (GCase) activity and accumulation of its substrate glucosylceramide (GluCer)/-sphingosine (GluSph). The macrophages are the main cell type exhibiting a Gaucher disease phenotype. The large accumulation of GluCer and to a lesser extent that of GluSph lead to dysfunction in organs such as spleen, liver, bone marrow, and lungs.
However, a validated, reproducible, and broadly applicable tool to classify Gaucher Disease at any stage of the disease is still missing.
The development of new technologies, such as genomic analysis by next generation sequencing (NGS) and other "omics technologies," has advanced the molecular understanding and diagnosis of Rare Diseases
The current study will analyze the transcriptional and metabolomic profiles in blood, plasma and isolated monocytes from Gaucher patients and healthy controls with the aim to compare these profiles and to define how much a patient profile differs from a healthy one.
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
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Gaucher Type 1 participants:
- •Informed consent
- •The participant is older than 18 years old
- •The participant was diagnosed with Gaucher Type 1 disease
- •Gaucher Type 3 participants:
- •Informed consent
- •The participant is older than 18 years old
- •The participant was diagnosed with Gaucher type 3 disease
- •Healthy participants:
- •Informed consent
- •The participant is older than 18 years old
- •Healthy participants
排除标准
- •Gaucher Type I participants:
- •The participant had any other clinically significant disease
- •The participant had a recent (within 14 days) acute infection and/or vaccination
- •Gaucher Type 3 participants:
- •Diagnosis of a significant CNS disease or cardiovascular disease other than Gaucher type 3
- •The participant had a recent (within 14 days) acute infection and/or vaccination
- •Healthy participants:
- •The participant had a recent (within 14 days) acute infection and/or vaccination
结局指标
主要结局
OMICS DATA
时间窗: 12 months
investigate the transcriptomic and metabolomic changes in blood, plasma and isolated monocytes from Gaucher patients and healthy controls.
次要结局
未报告次要终点