Pediatric Von Hippel-Lindau Disease: Natural History, Predictive Factors, and Long-Term Functional Outcomes of Central Nervous System Hemangioblastomas (VHL-PED-CHB)
Studieoversikt
Status
Detaljert beskrivelse
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
Registrering (Antatt)
Kontakter og plasseringer
Studiekontakt
- Navn: Amr ABDELHAKAM
- Telefonnummer: +330(1)86678473
- E-post: amr.abdelhakam@aphp.fr
Studiesteder
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Lille, Frankrike
- Hôpital Roger Salengro, CHU Lille
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Ta kontakt med:
- Mélodie-Anne KARNOUB
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Ta kontakt med:
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Lyon, Frankrike
- Hôpital Femme Mère Enfant, HCL
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Ta kontakt med:
- Federico DI ROCCO
- E-post: federico.dirocco@chu-lyon.fr
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Ta kontakt med:
- x
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Paris, Frankrike
- Hopital Necker
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Ta kontakt med:
- Kevin BECCARIA
- E-post: kevin.beccaria@aphp.fr
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Deltakelseskriterier
Kvalifikasjonskriterier
Alder som er kvalifisert for studier
- Barn
- Voksen
Tar imot friske frivillige
Prøvetakingsmetode
Studiepopulasjon
Beskrivelse
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
Studieplan
Hvordan er studiet utformet?
Designdetaljer
Hva måler studien?
Primære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
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Transition from radiological surveillance to neurosurgical intervention for a CNS hemangioblastoma.
Tidsramme: 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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Sekundære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
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Association between timing of surgery and neurological outcome
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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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Samarbeidspartnere og etterforskere
Studierekorddatoer
Studer hoveddatoer
Studiestart (Antatt)
Primær fullføring (Antatt)
Studiet fullført (Antatt)
Datoer for studieregistrering
Først innsendt
Først innsendt som oppfylte QC-kriteriene
Først lagt ut (Faktiske)
Oppdateringer av studieposter
Sist oppdatering lagt ut (Faktiske)
Siste oppdatering sendt inn som oppfylte QC-kriteriene
Sist bekreftet
Mer informasjon
Begreper knyttet til denne studien
Nøkkelord
Ytterligere relevante MeSH-vilkår
Andre studie-ID-numre
- APHP260832
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