Pediatric Von Hippel-Lindau Disease: Natural History, Predictive Factors, and Long-Term Functional Outcomes of Central Nervous System Hemangioblastomas
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 25
- 试验地点
- 3
- 主要终点
- Transition from radiological surveillance to neurosurgical intervention for a CNS hemangioblastoma.
研究概览
简要总结
Von Hippel-Lindau (VHL) disease is a rare hereditary cancer predisposition syndrome associated with the development of central nervous system hemangioblastomas from childhood. The natural history of these lesions in pediatric patients remains poorly characterized, particularly regarding the factors that predict progression from radiological surveillance to neurosurgical intervention. This multicenter retrospective observational study aims to identify clinical, radiological, and genetic predictors of surgical indication in children with VHL-associated CNS hemangioblastomas and to evaluate their long-term neurological and functional outcomes. The findings may contribute to optimizing surveillance strategies and improving clinical decision-making in this rare population.
详细描述
Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary disorder caused by pathogenic variants in the VHL gene and characterized by the development of multiple benign and malignant tumors, including central nervous system (CNS) hemangioblastomas. In pediatric patients, CNS hemangioblastomas may remain asymptomatic for years before demonstrating periods of growth, cyst formation, neurological deterioration, or other complications requiring neurosurgical intervention. Despite regular radiological surveillance, there is currently no robust pediatric predictive model to identify lesions at highest risk of progression toward surgery.
This multicenter retrospective observational study aims to establish a pediatric cohort of patients diagnosed with VHL before the age of 18 years and presenting at least one CNS hemangioblastoma. Clinical, radiological, genetic, therapeutic, and follow-up data collected between 2010 and 2025 will be retrospectively extracted from medical records. Variables of interest will include demographic characteristics, VHL genotype, tumor burden and localization, radiological evolution, symptom onset, neurological deficits, surgical indications, operative procedures, postoperative complications, and long-term neurological and functional outcomes.
The primary objective is to identify clinical, radiological, and genetic factors associated with the transition from conservative surveillance to a neurosurgical indication. Secondary objectives include evaluating the relationship between surgical timing and functional outcome, describing long-term care pathways, identifying determinants of chronic neurological impairment, and defining high-risk subgroups that may benefit from personalized surveillance strategies. Statistical analyses will be performed using R software. By improving the understanding of the natural history and prognostic factors of pediatric VHL-associated CNS hemangioblastomas, this study seeks to support evidence-based management and improve long-term outcomes in affected children.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- — 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age under 18 years at diagnosis of Von Hippel-Lindau disease
- •Presence of at least one central nervous system hemangioblastoma
- •Available clinical, radiological and genetic data
排除标准
- •Insufficient follow-up data to assess clinical or radiological progression
- •Opposition from the child or his/her parents
结局指标
主要结局
Transition from radiological surveillance to neurosurgical intervention for a CNS hemangioblastoma.
时间窗: From diagnosis of CNS hemangioblastoma to last available follow-up, assessed retrospectively over the 2010-2025 study period
Occurrence of a neurosurgical procedure performed for a previously monitored central nervous system hemangioblastoma, regardless of the indication (radiological progression, symptom development, neurological deficit, cyst formation, syringomyelia, hydrocephalus, hemorrhage, or other documented clinical reasons).
次要结局
- Association between timing of surgery and neurological outcome(From neurosurgical intervention to last available follow-up, assessed retrospectively over the 2010-2025 study period)
- Number of neurosurgical interventions(From diagnosis of CNS hemangioblastoma to last available follow-up, assessed retrospectively over the 2010-2025 study period)
- Chronic neurological deficit(From diagnosis of CNS hemangioblastoma to last available follow-up, assessed retrospectively over the 2010-2025 study period)
- Number of high-risk patient subgroups identified(Through study completion, up to 15 years.)