Pediatric Von Hippel-Lindau Disease: Natural History, Predictive Factors, and Long-Term Functional Outcomes of Central Nervous System Hemangioblastomas

NCT07705529 | Not Yet Recruiting

• 1 other identifier: APHP260832
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 3

Brief Summary

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.

Conditions

Von Hippel-Lindau Disease; Central Nervous System Hemangioblastoma

Keywords

Von Hippel-Lindau disease; Central nervous system hemangioblastoma; Pediatric neurosurgery; Natural history; Surgical indication; Long-term neurological outcome

Outcome Measures

Primary Outcomes (1)

• Transition from radiological surveillance to neurosurgical intervention for a CNS hemangioblastoma.

  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

Secondary Outcomes (4)

• 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.

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Pediatric patients diagnosed with Von Hippel-Lindau disease before the age of 18 years and presenting with at least one central nervous system hemangioblastoma

You may qualify if:

• 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

You may not qualify if:

• Insufficient follow-up data to assess clinical or radiological progression
• Opposition from the child or his/her parents

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (3)

Hôpital Roger Salengro, CHU Lille

Lille, France

Location

Hôpital Femme Mère Enfant, HCL

Lyon, France

Location

Hôpital Necker

Paris, France

Location

MeSH Terms

Conditions

von Hippel-Lindau Disease

Condition Hierarchy (Ancestors)

Neurocutaneous Syndromes; Nervous System Diseases; Angiomatosis; Vascular Diseases; Cardiovascular Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Central Study Contacts

Amr ABDELHAKAM

CONTACT

+330(1)86678473; amr.abdelhakam@aphp.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 6, 2026
• First Posted: July 15, 2026
• Study Start: July 15, 2026
• Primary Completion (Estimated): July 15, 2027
• Study Completion (Estimated): July 15, 2027
• Last Updated: July 15, 2026

Record last verified: 2026-07

Locations

FR (3)