Clinical Trial: Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]

Official Title: Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

Brief Summary: Pheochromocytomas and paragangliomas are neural crest-derived tumors of the nervous system that are often inherited and genetically heterogeneous. Genetic screening is recommended for patients and their relatives, and can guide clinical decisions. However, a mutation is not found in all cases. The aims of this proposal are to: 1) to map gene(s) involved in pheochromocytoma, and 2) identify genotype-phenotype correlations in patients with pheochromocytoma/paraganglioma of various genetic origins.

Detailed Summary:

Pheochromocytoma and paragangliomas are tumors originated from neuroectoderm cells located in the adrenal or extra-adrenal paraganglia, often leading to increased secretion of hormones known as catecholamines. These tumors represent a potentially curable cause of hypertension and are malignant in about 10-15% of the cases. Approximately 40% of patients with pheochromocytomas and/or paraganglioma have an inherited mutation. In addition, some patients and/or their relatives that are mutation carriers can develop other tumors as part of inherited cancer susceptibility syndromes. Therefore, detection of the susceptibility mutation is important for diagnosis and follow up. However, the susceptibility gene mutation cannot be identified in all cases. Studies that aim to identify novel susceptibility genes for pheochromocytoma are required.

The fist aim of this study is to identify novel pheochromocytoma susceptibility genes. Characterization of such gene(s) can improve our understanding of the pathogenesis pheochromocytoma and paraganglioma and have an impact in diagnosis, therapeutic planning and genetic screening of relatives.

The second aim of this project is to characterize relationships between mutations and clinical features that can provide insights into clinical surveillance and screening of at-risk individuals.

Sponsor: The University of Texas Health Science Center at San Antonio

Current Primary Outcome:

• Identification of germline driver mutation [ Time Frame: through study completion- average time approximately 6 months ]
  Genetic screen detects a mutation that is likely responsible for tumor development
• Identification of somatic driver mutation [ Time Frame: through study completion- average time approximately 6 months ]
  Genetic screen detects a mutation that is likely responsible for tumor development

Original Primary Outcome: Same as current

Current Secondary Outcome:

• Identification of additional, potentially pathogenic genetic variants [ Time Frame: through study completion- average time approximately 6 months ]
  Genetic screen detects other mutations with potential pathogenic effects
• Identification of clinical features other than pheochromocytoma and/or paraganglioma that segregate with disease [ Time Frame: through study completion- average time approximately 6 months ]
  Clinical data reveals other features that might associate with the main disease phenotype

Original Secondary Outcome: Same as current

Information By: The University of Texas Health Science Center at San Antonio

Dates:
Date Received: May 5, 2017
Date Started: October 19, 2005
Date Completion: December 31, 2030
Last Updated: May 17, 2017
Last Verified: May 2017