Pediatric Von Hippel-Lindau Disease: Natural History, Predictive Factors, and Long-Term Functional Outcomes of Central Nervous System Hemangioblastomas (VHL-PED-CHB)
Visão geral do estudo
Status
Descrição detalhada
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.
Tipo de estudo
Inscrição (Estimado)
Contactos e Locais
Contato de estudo
- Nome: Amr ABDELHAKAM
- Número de telefone: +330(1)86678473
- E-mail: amr.abdelhakam@aphp.fr
Locais de estudo
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Lille, França
- Hôpital Roger Salengro, CHU Lille
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Contato:
- Mélodie-Anne KARNOUB
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Contato:
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Lyon, França
- Hôpital Femme Mère Enfant, HCL
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Contato:
- Federico DI ROCCO
- E-mail: federico.dirocco@chu-lyon.fr
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Contato:
- x
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Paris, França
- Hopital Necker
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Contato:
- Kevin BECCARIA
- E-mail: kevin.beccaria@aphp.fr
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Critérios de participação
Critérios de elegibilidade
Idades elegíveis para estudo
- Filho
- Adulto
Aceita Voluntários Saudáveis
Método de amostragem
População do estudo
Descrição
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
Plano de estudo
Como o estudo é projetado?
Detalhes do projeto
O que o estudo está medindo?
Medidas de resultados primários
Medida de resultado |
Descrição da medida |
Prazo |
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Transition from radiological surveillance to neurosurgical intervention for a CNS hemangioblastoma.
Prazo: From diagnosis of CNS hemangioblastoma to last available follow-up, assessed retrospectively over the 2010-2025 study period
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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).
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From diagnosis of CNS hemangioblastoma to last available follow-up, assessed retrospectively over the 2010-2025 study period
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Medidas de resultados secundários
Medida de resultado |
Descrição da medida |
Prazo |
|---|---|---|
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Association between timing of surgery and neurological outcome
Prazo: From neurosurgical intervention to last available follow-up, assessed retrospectively over the 2010-2025 study period
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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.
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From neurosurgical intervention to last available follow-up, assessed retrospectively over the 2010-2025 study period
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Number of neurosurgical interventions
Prazo: From diagnosis of CNS hemangioblastoma to last available follow-up, assessed retrospectively over the 2010-2025 study period
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Total number of neurosurgical procedures performed for CNS hemangioblastomas during follow-up.
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From diagnosis of CNS hemangioblastoma to last available follow-up, assessed retrospectively over the 2010-2025 study period
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Chronic neurological deficit
Prazo: From diagnosis of CNS hemangioblastoma to last available follow-up, assessed retrospectively over the 2010-2025 study period
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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
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Number of high-risk patient subgroups identified
Prazo: Through study completion, up to 15 years.
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Number of high-risk patient subgroups identified according to clinical, radiological, and genetic characteristics.
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Through study completion, up to 15 years.
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Colaboradores e Investigadores
Patrocinador
Datas de registro do estudo
Datas Principais do Estudo
Início do estudo (Estimado)
Conclusão Primária (Estimado)
Conclusão do estudo (Estimado)
Datas de inscrição no estudo
Enviado pela primeira vez
Enviado pela primeira vez que atendeu aos critérios de CQ
Primeira postagem (Real)
Atualizações de registro de estudo
Última Atualização Postada (Real)
Última atualização enviada que atendeu aos critérios de controle de qualidade
Última verificação
Mais Informações
Termos relacionados a este estudo
Palavras-chave
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Outros números de identificação do estudo
- APHP260832
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