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Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl System

NCT02120040 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 42

Last updated 2023-04-06

No results posted yet for this study

Summary

Von Hippel-Lindau (VHL) disease is a severe autosomal dominant genetic disorder (with almost complete penetrance) that predisposes to many tumors including some associated with a poorer outcome. Clear cell renal cell carcinoma (CCRCC) is the leading cause of mortality.

The diagnosis of VHL disease may be challenging because tumors have an asynchronous and multi-organ development and there is often no apparent hereditary context. As it is admitted that VHL disease is underdiagnosed, some countries have decided to recall patients presenting one of the potentially VHL disease-associated tumors to screen them for VHL mutation. Screening is currently recommended in guidelines but many patients may have not been previously screened.

Hemangioblastoma (HB) of the Central nervous system (CNS) is one of the typical VHL tumors and up to 20% of patients with HB show VHL mutation. VHL diagnosis in this population enables the diagnosis of other tumor types at an early stage of development since HB is chronologically the second tumor occurring during the VHL disease history.

But it raises critical problems and questions: difficult announcement of a potentially severe disease and psychosocial dimension related to inheritance of the disease.

Conditions

  • Hemangioblastoma (HB) of the Central Nervous System (CNS)

Interventions

OTHER

evaluation of anxiety with psychosocial scales

Sponsors & Collaborators

  • Assistance Publique Hopitaux De Marseille

    lead OTHER

Principal Investigators

  • Philippe Metellus, MD · Assistance Publique Hopitaux De Marseille

Study Design

Allocation
NA
Purpose
OTHER
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-05-02
Primary Completion
2015-10-09
Completion
2023-03-08

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02120040 on ClinicalTrials.gov