Radiogenomics: Personalized Imaging of Arthropathy in Boys With Hemophilia in China
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 49
- 试验地点
- 1
- 主要终点
- Annualized total index joint bleeding rates (AJBRs)
研究概览
简要总结
Hemophilia is a genetic condition characterized by marked phenotypic heterogeneity. Bleeding into a joint is the single most important risk factor for the development of hemophilic arthropathy (HA). It is thought that clinical and imaging manifestations of HA are at least partially attributable to genetic polymorphisms unrelated to the hemophilia genotype. Identifying and characterizing biologic factors that could explain differences in susceptibility to joint degeneration of patients with hemophilia would help stratify patients according to the risk of degeneration of their joints and develop personalized therapeutic and prophylactic strategies. This study is conducted in China.
详细描述
This will be a 3-year prospective cohort study conducted in a single centre (Beijing Children's Hospital, BCH, China) with a 2-year follow-up of patients Index joints (ankles, elbows and knees) of young Chinese boys with hemophilia A will be evaluated as follows: physical examination every 6 months using the Hemophilia Joint Health Score [HJHS], ultrasound imaging (gray-scale and color Doppler ultrasound [US]), and by laboratory (serum) at baseline, at 6, and 24 months. Magnetic resonance imaging (MRI) scans of index joints will be obtained at baseline, and 24 months. Features that will be captured either quantitatively or semantically in the imaging scans will be aggregated to generate "imaging phenotypes" which will be associated with clusters of co-expressed genes (metagenes) and clinical data.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 4 Years 至 11 Years（Child）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Hemophilia A with baseline FVIII levels of <2%
- •Clinical history of ≥ 50 exposure days to FVIII prior to the study start.
- •On-demand treatment, prophylaxis FVIII infusions or treatment with plasma-derived products for >3 months prior to enrollment into the study.
排除标准
- •History of FVIII inhibitor (titer >0.6 Bethesda Units [BU])
- •Chronic renal failure (serum creatinine >2.0 mg /dL).
- •Chronic liver disease (alanine aminotransferase [ALT] >200 U/L).
- •Clinically documented immunodeficiency.
- •Anticipation of need for major surgery during the study period.
- •Association of diseases known to mimic or cause joint diseases such as symptomatic human immunodeficiency virus (HIV) infection, juvenile idiopathic arthritis, and metabolic bone diseases.
- •Social barriers for participation in the study such as long distance between home and the comprehensive care centre, and documented track record of non-compliance to therapies or participation in clinical studies.
- •Neuro-developmental/behavioral problems.
- •Contraindications to MR imaging (presence of heart pacemakers, metallic foreign bodies in the eye, aneurysm clips, severe claustrophobia).
结局指标
主要结局
Annualized total index joint bleeding rates (AJBRs)
时间窗: Between baseline and 24 months
AJBRs will be calculated from prospectively collected joint bleeding logs and clinic records.
次要结局
- Internal MRI-based osteochondral tissue score change(Between baseline and 24 months)
- Number of participants with joint inflammation(Between baseline and 24 months)
- Number of participants with joint damage(Between baseline and 24 months)
- Internal MRI-based soft tissue score change(Between baseline and 24 months)
- Presence of inflammatory biomarkers in plasma(At baseline, 6 months and 24 months)
- Number of participants with clinical arthropathy(Every 6 months)
研究者
Andrea Doria
Radiologist, Senior Scientist, Research Director, Department of Diagnostic Imaging
The Hospital for Sick Children