Hereditary Paraganglioma: Evaluation of Screening Methods to Detect Tumors in SDH Positive Carriers

NCT ID: NCT00188019

Last Updated: 2015-07-23

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 248 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2005-11-30
• Study Completion Date: 2013-11-30

Brief Summary

Hereditary paraganglioma -due to SDH (SDHD, SDHB, SDHC) germline mutations- causes paragangliomas and pheochromocytomas. Presymptomatic genetic testing should be offered to all first-degree relatives if an SDH mutation is detected in an index case with paraganglioma or pheochromocytoma. The main objective of our national clinical research project is to test different screening methods to detect presymptomatic tumors in order to establish guidelines for the work-up and the follow-up of SDH mutation carriers.

Conditions

Paraganglioma; Pheochromocytoma

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: DIAGNOSTIC
• Blinding Strategy: NONE

Interventions

diagnosis methods

Intervention Type: PROCEDURE

Eligibility Criteria

Inclusion Criteria

Inclusion Criteria: identification of an SDH (SDHD, SDHD, SDHC) germline mutation

• Minimum Eligible Age: 6 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: collaborator

University Hospital, Angers

OTHER_GOV

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Vincent Rohmer, MD

Role: PRINCIPAL_INVESTIGATOR

University Angers Hospital

Anne-Paule Gimenez-Roqueplo, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Paris-Descartes University, Européen Georges Pompidou Hospital, Assistance Publique des Hôpitaux de Paris

Locations

Européen Georges Pompidou Hospital

Paris, , France

Countries

France

Other Identifiers

PHRC 04-01

Identifier Type: -

Identifier Source: org_study_id