A Prospective Natural History Study of VHL Patients With CNS Hemangioblastomas
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 250
- 试验地点
- 1
- 主要终点
- Determine the course of clinical and radiographic progression of VHL
研究概览
简要总结
The purpose of this study is to learn more about the growth of brain and spinal cord tumors and cysts that develop in association with them in patients with von Hippel-Lindau disease. It will examine how fast the tumors grow and try to determine what factors (for example, puberty , pregnancy, menopause, blood proteins, etc.) affect their growth.
Patients between the ages of 8 and 75 years who are enrolled in NIH s study of von Hippel-Lindau disease may be eligible for this 5-year study. Participants will have magnetic resonance imaging (MRI) of the brain and spinal cord and a thorough neurological history and examination at the start of the study. A blood sample will be taken for analysis of factors (hormones or other proteins) that may predict tumor growth. Follow-up clinic visits every 6 months will include a physical and neurological examination, blood tests, and MRI scans of the brain and spine. If symptoms or tumor growth requires more frequent follow-up, scans will be done at 3-month intervals.
Surgical removal of brain and spinal cord tumors is currently the treatment of choice when these lesions cause neurological problems. A better understanding of which tumors are likely to grow and which will remain stable may help guide physicians in treatment decisions and avoid unnecessary procedures.
详细描述
Hemangioblastomas of the cerebellum, brainstem, and spinal cord are frequent tumors in patients with von Hippel-Lindau (VHL) disease. Rarely, these lesions also affect the cerebrum. Patients often have multiple lesions, many of which are associated with cysts or syrinx. The current treatment for symptomatic lesions is surgical resection. Focused radiation is also being used in selected cases in an attempt to provide tumor control. The natural history of central nervous system (CNS) lesions in patients with VHL has not been addressed in a prospective study. It is not clear at which point these lesions will begin to grow, or develop cysts in the cerebellum or syrinx in the spinal cord, and systemic factors that influence tumor growth have not been identified. By identifying factors that predict or influence tumor progression or cyst development, we can more accurately recommend surgical or medical intervention at appropriate times and avoid unnecessary treatment for stable lesions. This natural experiment trial collected prospective radiological and clinical data on the growth of the central nervous system (CNS) hemangioblastomas and associated cysts. We prospectively collected information on systemic processes that may influence tumor progression, such as puberty, menopause, pregnancy, effects of hormone therapy, tumor load, serum erythropoietin level and hemoglobin/hematocrit levels.
This natural experiment trial has resulted in significant improvement in our understanding of the pathophysiology of VHL disease. Data from this trial have resulted in a better understanding of the origin and growth patterns of hemangioblastomas and endolymphatic sac tumors in patients with VHL disease. New therapies targeting hemangioblastomas in VHL disease are being devised based on information gathered from this study. We expect this natural experiment trial to continue to inspire new hypothesis-driven studies while improving the understanding and management of hemangioblastomas in VHL disease.
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
- 8 Years 至 75 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •INCLUSION CRITERIA:
- •Confirmed diagnosis of von Hippel-Lindau disease.
- •Presence of one or more cerebral, cerebellar or spinal cord hemangioblastomas on screening MRI.
- •Able to give informed consent (or assent), or have a parent able to provide informed consent if a child.
- •Karnofsky Performance Scale Score greater than or equal to
- •Have the capacity to undergo serial MRI scanning of the CNS without IV sedation.
排除标准
- •Clinically unstable condition.
- •Contraindication to MRI scanning such as surgery that involves metal clips or wires which might be expected to cause tissue damage or produce image artifacts.
研究组 & 干预措施
1
250 subjects with von Hippel-Lindau (VHL) disease.
结局指标
主要结局
Determine the course of clinical and radiographic progression of VHL
时间窗: Baseline, 12-24 month intervals
The questions to be answered fall in the following general categories: 1. Course of Clinical Progression 2. Radiographic Progression 3. Post-treatment outcome (surgery and radiation) 4. Contributing factors 5. Genetic variability and effects on disease progression
次要结局
- Determine the course of tumor and cyst growth after surgical and/or radiation intervention.(12 24 months after surgery until withdrawal or death)