Advancing Integrated Therapies for Gaucher Disease: Neuronopathic Innovation and Combination Strategies for Refractory Skeletal Disease
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 30
- 试验地点
- 1
- 主要终点
- Change in pulmonary and lymphatic Gaucher disease burden
研究概览
简要总结
The purpose of this study is to better understand the natural history, clinical outcomes, and biological features of Gaucher disease in patients receiving standard medical care
详细描述
To define clinical trajectories, biomarkers, and mechanistic correlates of persistent or progressive disease in patients with Gaucher disease receiving standard-of-care therapy.
Type 1 Gaucher Disease (Non-Neuronopathic) (GD1)
Type 2 Gaucher Disease (Acute Neuronopathic) (GD2)
Type 3 Gaucher Disease (Chronic Neuronopathic) (GD3)
Specific Aim 1 To characterize pulmonary disease and massive lymphadenopathy in patients with neuronopathic Gaucher disease (GD2-GD3) under standard-of-care therapy.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 3 Months 至 75 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Confirmed diagnosis of GD2 or GD3 based on genotype and phenotype
- •Evidence of pulmonary infiltrative disease and/or mediastinal or mesenteric lymphadenopathy
- •Receiving or eligible for standard-of-care therapy
- •Age ≥ 3 months
- •Ability to provide informed consent (or parental consent with assent as appropriate)
- •ages 10-75
- •persistent skeletal disease despite long-term therapy
- •Gaucher disease and clinical features of Parkinson disease
- •Ability to provide informed consent
排除标准
- •Inability to comply with observational follow-up
- •Any condition that, in the investigator's judgment, precludes safe participation
研究组 & 干预措施
Neuronopathic Gaucher Disease
Participants with GD2 or GD3 and documented pulmonary disease and/or massive lymphadenopathy.
Refractory Skeletal Disease
Participants with GD1 or GD3, ages 10-75, with persistent skeletal disease despite long-term therapy.
Gaucher-Parkinson Overlap
Adult participants only with Gaucher disease and clinical features of Parkinson disease.
结局指标
主要结局
Change in pulmonary and lymphatic Gaucher disease burden
时间窗: Baseline, 6, 12, 24, and 36 months
Within-participant change from baseline in the extent of pulmonary infiltrates and/or lymphadenopathy on chest CT or MRI;
Change in oxygen requirements
时间窗: Baseline, 6, 12, 24, and 36 months
Mean oxygen saturation (SpO₂)
Change in pulmonary function measures
时间窗: Baseline, 6, 12, 24, and 36 months
Changed in forced vital capacity and diffusion capacity
Change in bone marrow infiltration
时间窗: Baseline, 6, 12, 24, and 36 months
Change in bone marrow infiltration on MRI
Number of participants that develop or have progression of avascular necrosis
时间窗: Baseline, 6, 12, 24, and 36 months
Number of participants that develop or have progression of avascular necrosis on MRI
Change in bone mineral density
时间窗: Baseline, 6, 12, 24, and 36 months
Change in bone mineral density measured by DEXA Z-score. Above -2.0: Normal. -2.0 or Lower: Below the expected range.
Number of participants with fractures or acute bone crisis
时间窗: Baseline, 6, 12, 24, and 36 months
Number of participants with fractures or acute bone crisis
Change in neurologic manifestations
时间窗: Baseline, 6, 12, 24, and 36 months
Change in motor and non-motor neurologic manifestations
DaTscan score
时间窗: Baseline, 6, 12, 24, and 36 months
Z-Score Between 0 and -1 is normal, Z-score between -1.5 to -1.8 or lower is abnormal.
Mean concentration neurofilament light-chain (NfL) trajectories
时间窗: Baseline, 6, 12, 24, and 36 months
Mean concentration neurofilament light-chain (NfL) trajectories in pg/ml
次要结局
- Mean change glucosylsphingosine concentration(Baseline, 6, 12, 24, and 36 months)
- Mean change chitotriosidase activity(Baseline, 6, 12, 24, and 36 months)
- Mean change Glycoprotein Non-Metastatic Melanoma Protein B (gpNMB)(Baseline, 6, 12, 24, and 36 months)
- Mean change complement activation markers(Baseline, 6, 12, 24, and 36 months)
- Mean change circulating inflammatory cytokine(Baseline, 6, 12, 24, and 36 months)
- Association between biomarker trajectories and clinical or imaging outcomes(Baseline,12 and 36 months)