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

NCT ID: NCT02120040

Last Updated: 2023-04-06

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 42 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2014-05-02
• Study Completion Date: 2023-03-08

Brief 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)

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: OTHER
• Blinding Strategy: NONE

Study Groups

Hemangioblastoma (HB) of the Central nervous system (CNS)

Group Type: OTHER

evaluation of anxiety with psychosocial scales

Intervention Type: OTHER

Interventions

evaluation of anxiety with psychosocial scales

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• age >=18;
• Surgery for a CNS HB in the department of Neurosurgery of la Timone university hospital since 1999 ;
• Absence of prior screening for VHL

Exclusion Criteria

• minor,
• incorrect French language

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 80 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Assistance Publique Hopitaux De Marseille

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Philippe Metellus, MD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique Hopitaux De Marseille

Locations

Assistance Publique Hopitaux de Marseille

Marseille, , France

Countries

France

Other Identifiers

2014-01

Identifier Type: -

Identifier Source: org_study_id