Pediatric Von Hippel-Lindau Disease: Natural History, Predictive Factors, and Long-Term Functional Outcomes of Central Nervous System Hemangioblastomas (VHL-PED-CHB)
研究概览
地位
详细说明
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.
研究类型
注册 (估计的)
联系人和位置
学习联系方式
- 姓名：Amr ABDELHAKAM
- 电话号码：+330(1)86678473
- 邮箱：amr.abdelhakam@aphp.fr
学习地点
-
-
-
Lille、法国
- Hôpital Roger Salengro, CHU Lille
-
接触：
- Mélodie-Anne KARNOUB
-
Lyon、法国
- Hôpital Femme Mère Enfant, HCL
-
接触：
- Federico DI ROCCO
- 邮箱：federico.dirocco@chu-lyon.fr
-
接触：
- x
-
Paris、法国
- Hopital Necker
-
接触：
- Kevin BECCARIA
- 邮箱：kevin.beccaria@aphp.fr
-
-
参与标准
资格标准
适合学习的年龄
- 孩子
- 成人
接受健康志愿者
取样方法
研究人群
描述
Inclusion Criteria:
- 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
Exclusion Criteria:
- Insufficient follow-up data to assess clinical or radiological progression
- Opposition from the child or his/her parents
学习计划
研究是如何设计的？
设计细节
研究衡量的是什么？
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
|
Transition from radiological surveillance to neurosurgical intervention for a CNS hemangioblastoma.
大体时间：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).
|
From diagnosis of CNS hemangioblastoma to last available follow-up, assessed retrospectively over the 2010-2025 study period
|
次要结果测量
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
|
Association between timing of surgery and neurological outcome
大体时间：From neurosurgical intervention to last available follow-up, assessed retrospectively over the 2010-2025 study period
|
Evaluation of whether neurosurgical intervention performed before the occurrence of severe neurological deficit, hemorrhage, or hydrocephalus is associated with a better neurological outcome at last follow-up.
|
From neurosurgical intervention to last available follow-up, assessed retrospectively over the 2010-2025 study period
|
|
Number of neurosurgical interventions
大体时间：From diagnosis of CNS hemangioblastoma to last available follow-up, assessed retrospectively over the 2010-2025 study period
|
Total number of neurosurgical procedures performed for CNS hemangioblastomas during follow-up.
|
From diagnosis of CNS hemangioblastoma to last available follow-up, assessed retrospectively over the 2010-2025 study period
|
|
Chronic neurological deficit
大体时间：From diagnosis of CNS hemangioblastoma to last available follow-up, assessed retrospectively over the 2010-2025 study period
|
Occurrence or persistence of chronic neurological deficits during follow-up, including motor, sensory, cerebellar, cranial nerve, or sphincter deficits. Time Frame: From diagnosis to last available follow-up. |
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
大体时间：Through study completion, up to 15 years.
|
Number of high-risk patient subgroups identified according to clinical, radiological, and genetic characteristics.
|
Through study completion, up to 15 years.
|
合作者和调查者
研究记录日期
研究主要日期
学习开始 (估计的)
初级完成 (估计的)
研究完成 (估计的)
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (实际的)
研究记录更新
最后更新发布 (实际的)
上次提交的符合 QC 标准的更新
最后验证
更多信息
与本研究相关的术语
关键字
其他研究编号
- APHP260832
药物和器械信息、研究文件
研究美国 FDA 监管的药品
研究美国 FDA 监管的设备产品
此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.