Pediatric Von Hippel-Lindau Disease: Natural History, Predictive Factors, and Long-Term Functional Outcomes of Central Nervous System Hemangioblastomas (VHL-PED-CHB)
연구 개요
상태
상세 설명
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.
연구 유형
등록 (추정된)
연락처 및 위치
연구 연락처
- 이름: Amr ABDELHAKAM
- 전화번호: +330(1)86678473
- 이메일: amr.abdelhakam@aphp.fr
연구 장소
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Lille, 프랑스
- Hôpital Roger Salengro, CHU Lille
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연락하다:
- Mélodie-Anne KARNOUB
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연락하다:
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Lyon, 프랑스
- Hôpital Femme Mère Enfant, HCL
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연락하다:
- Federico DI ROCCO
- 이메일: federico.dirocco@chu-lyon.fr
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연락하다:
- x
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Paris, 프랑스
- Hopital Necker
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연락하다:
- Kevin BECCARIA
- 이메일: kevin.beccaria@aphp.fr
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참여기준
자격 기준
공부할 수 있는 나이
- 어린이
- 성인
건강한 자원 봉사자를 받아들입니다
샘플링 방법
연구 인구
설명
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
공부 계획
연구는 어떻게 설계됩니까?
디자인 세부사항
연구는 무엇을 측정합니까?
주요 결과 측정
결과 측정 |
측정값 설명 |
기간 |
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Transition from radiological surveillance to neurosurgical intervention for a CNS hemangioblastoma.
기간: 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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2차 결과 측정
결과 측정 |
측정값 설명 |
기간 |
|---|---|---|
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Association between timing of surgery and neurological outcome
기간: 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
기간: 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
기간: 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
기간: 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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공동 작업자 및 조사자
연구 기록 날짜
연구 주요 날짜
연구 시작 (추정된)
기본 완료 (추정된)
연구 완료 (추정된)
연구 등록 날짜
최초 제출
QC 기준을 충족하는 최초 제출
처음 게시됨 (실제)
연구 기록 업데이트
마지막 업데이트 게시됨 (실제)
QC 기준을 충족하는 마지막 업데이트 제출
마지막으로 확인됨
추가 정보
이 연구와 관련된 용어
키워드
추가 관련 MeSH 약관
기타 연구 ID 번호
- APHP260832
약물 및 장치 정보, 연구 문서
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미국 FDA 규제 기기 제품 연구
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