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

University Hospital, Angers

Status: Completed

Conditions: Paraganglioma; Pheochromocytoma

Treatments: Procedure: diagnosis methods

Study type: Interventional

Funder types: Other

Identifiers

NCT00188019

PHRC 04-01

Details and patient eligibility

About

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.

Enrollment: 248 patients

Sex: All

Ages: 6+ years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

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

Trial design

Primary purpose: Diagnostic

Allocation: Non-Randomized

Interventional model: Single Group Assignment

Masking: None (Open label)