Pediatric Von Hippel-Lindau Disease: Natural History, Predictive Factors, and Long-Term Functional Outcomes of Central Nervous System Hemangioblastomas (VHL-PED-CHB)
Studie Overzicht
Toestand
Gedetailleerde beschrijving
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.
Studietype
Inschrijving (Geschat)
Contacten en locaties
Studiecontact
- Naam: Amr ABDELHAKAM
- Telefoonnummer: +330(1)86678473
- E-mail: amr.abdelhakam@aphp.fr
Studie Locaties
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Lille, Frankrijk
- Hôpital Roger Salengro, CHU Lille
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Contact:
- Mélodie-Anne KARNOUB
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Contact:
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Lyon, Frankrijk
- Hôpital Femme Mère Enfant, HCL
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Contact:
- Federico DI ROCCO
- E-mail: federico.dirocco@chu-lyon.fr
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Contact:
- x
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Paris, Frankrijk
- Hopital Necker
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Contact:
- Kevin BECCARIA
- E-mail: kevin.beccaria@aphp.fr
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Deelname Criteria
Geschiktheidscriteria
Leeftijden die in aanmerking komen voor studie
- Kind
- Volwassen
Accepteert gezonde vrijwilligers
Bemonsteringsmethode
Studie Bevolking
Beschrijving
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
Studie plan
Hoe is de studie opgezet?
Ontwerpdetails
Wat meet het onderzoek?
Primaire uitkomstmaten
Uitkomstmaat |
Maatregel Beschrijving |
Tijdsspanne |
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Transition from radiological surveillance to neurosurgical intervention for a CNS hemangioblastoma.
Tijdsspanne: 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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Secundaire uitkomstmaten
Uitkomstmaat |
Maatregel Beschrijving |
Tijdsspanne |
|---|---|---|
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Association between timing of surgery and neurological outcome
Tijdsspanne: 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
Tijdsspanne: 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
Tijdsspanne: 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
Tijdsspanne: 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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Medewerkers en onderzoekers
Studie record data
Bestudeer belangrijke data
Studie start (Geschat)
Primaire voltooiing (Geschat)
Studie voltooiing (Geschat)
Studieregistratiedata
Eerst ingediend
Eerst ingediend dat voldeed aan de QC-criteria
Eerst geplaatst (Werkelijk)
Updates van studierecords
Laatste update geplaatst (Werkelijk)
Laatste update ingediend die voldeed aan QC-criteria
Laatst geverifieerd
Meer informatie
Termen gerelateerd aan deze studie
Trefwoorden
Aanvullende relevante MeSH-voorwaarden
Andere studie-ID-nummers
- APHP260832
Informatie over medicijnen en apparaten, studiedocumenten
Bestudeert een door de Amerikaanse FDA gereguleerd geneesmiddel
Bestudeert een door de Amerikaanse FDA gereguleerd apparaatproduct
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