Ultrasound Assessment of Joint Health in Patients With Mild Hemophilia (Factor Levels 5-40%)
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 150
- 试验地点
- 1
- 主要终点
- HEAD-US score
研究概览
简要总结
Currently, few recommendations exist for patients with mild hemophilia, who represent approximately 60% of the hemophilia population. This study aims to provide objective data on joint health in these patients, which are currently limited compared to those with moderate or severe hemophilia.
The use of joint ultrasound in mild hemophilia could allow early, asymptomatic detection of joint damage, support tailored management including patient education, and ultimately improve quality of life.
The study will also explore the correlation between coagulation factor levels (FVIII or FIX) and other indicators of joint health in France.
详细描述
Hemophilia is an inherited bleeding disorder caused by a deficiency of factor VIII (hemophilia A) or factor IX (hemophilia B), predominantly affecting males, although female carriers can also be symptomatic, often in a milder form. The incidence of hemophilia is similar worldwide, with hemophilia A occurring in approximately 1 in 5,000 births and hemophilia B in 1 in 25,000 births. In France, over 8,000 patients with hemophilia A and 2,000 patients with hemophilia B have been reported, with approximately one-third presenting with severe disease, over 10% with moderate disease, and 60% with mild disease.
Severe hemophilia is associated with frequent and potentially serious bleeding, including joint bleeding, which can lead to progressive and irreversible hemophilic arthropathy. Optimized hemostatic treatments and early detection strategies, such as joint ultrasound, have markedly improved outcomes in severe cases. However, little is known about joint health in patients with mild hemophilia. Although bleeds are less frequent and rarely spontaneous in these patients, they remain at risk of developing arthropathy, including from asymptomatic micro-bleeds.
This study aims to provide objective data on joint health in mild hemophilia patients in France and to explore potential correlations between coagulation factor levels (FVIII or FIX) and other indicators of joint involvement. The results are expected to improve understanding of joint disease in this population and may help guide future preventive and therapeutic strategies.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Prevention
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Adult (≥18 years old) with congenital mild hemophilia, defined as historical coagulation factor level >5% and <40% (FVIII or FIX).
- •Affiliated with a social security system.
- •Provided written informed consent to participate in the study.
排除标准
- •Patient on prophylactic treatment, defined as at least one of the following:
- •o. ≥5 factor concentrate injections per month for a period of more than 6 months o. Treatment with emicizumab o. Last factor concentrate injection within the past 28 days
- •Patient with acquired hemophilia.
- •Patient with uncontrolled chronic rheumatologic disease, such as rheumatoid arthritis, inflammatory spondyloarthropathies, or microcrystalline arthritis.
- •Known pregnancy or breastfeeding.
- •Patient deprived of liberty or under legal guardianship or conservatorship.
研究组 & 干预措施
Mild Hemophilia Assessment
Patients with mild hemophilia will undergo an evaluation of joint health and functional status. Assessments will include joint ultrasound (HEAD-US) of six joints (ankles, knees, and elbows), blood sampling to determine FVIII or FIX activity, completion of functional, quality-of-life, and physical activity questionnaires, and clinical evaluation using the HemoFAST score. No therapeutic intervention or follow-up is planned as part of the study.
干预措施: Blood Sample for Coagulation Factor Measurement (Other)
Mild Hemophilia Assessment
Patients with mild hemophilia will undergo an evaluation of joint health and functional status. Assessments will include joint ultrasound (HEAD-US) of six joints (ankles, knees, and elbows), blood sampling to determine FVIII or FIX activity, completion of functional, quality-of-life, and physical activity questionnaires, and clinical evaluation using the HemoFAST score. No therapeutic intervention or follow-up is planned as part of the study.
干预措施: Joint Ultrasound (HEAD-US) (Other)
结局指标
主要结局
HEAD-US score
时间窗: At inclusion visit
Ultrasound evaluation of six joints (elbows, knees, and ankles) using the HEAD-US scoring system (score range 0-48, where lower scores indicate better joint status) to assess joint health and detect early arthropathy.
FVIII or FIX Activity
时间窗: At inclusion visit
Blood sample measurement of FVIII or FIX activity according to local laboratory procedures (score range 5-40).
Haemophilia Early Arthropathy Detection with UltraSound (HEAD-US) score
时间窗: At inclusion visit
Ultrasound evaluation of six joints (elbows, knees, and ankles) using the HEAD-US scoring system (score range 0-48, where lower scores indicate better joint status) to assess joint health and detect early arthropathy.
次要结局
- HemoFAST Score(At inclusion visit)
- Haemophilia Activities List (HAL)(At inclusion visit)
- Haemo-A-Qol(At inclusion visit)
- EQ-5D-3L(At inclusion visit)
- IPAQ(At inclusion visit)
- Haemophilia Functional Ability Scoring Tool (Hemo-FAST)(At inclusion visit)
- Haemophilia-Associated Quality of Life Questionnaire for Adults (Haem-A-QoL).(At inclusion visit)
- EuroQol 5-Dimension 3-Level Questionnaire (EQ-5D-3L)(At inclusion visit)
- International Physical Activity Questionnaire (IPAQ)(At inclusion visit)