Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

Sponsor

The University of Texas Health Science Center at San Antonio (Other)

Overall Status

Recruiting

CT.gov ID

NCT03160274

Collaborator

National Institute of General Medical Sciences (NIGMS) (NIH)

2,000

Enrollment

Location

302.4

Anticipated Duration (Months)

6.6

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Pheochromocytoma Paraganglioma Inherited Cancer Syndrome Associated Conditions Kidney Neoplasms Bone Cancer Thyroid Neoplasms Other Cancer	Genetic: Genetic screening

Detailed Description

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.

Study Design

Study Type:

Observational [Patient Registry]

Anticipated Enrollment :

2000 participants

Observational Model:

Cohort

Time Perspective:

Other

Official Title:

Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

Actual Study Start Date :

Oct 19, 2005

Anticipated Primary Completion Date :

Dec 31, 2030

Anticipated Study Completion Date :

Dec 31, 2030

Outcome Measures

Primary Outcome Measures

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

Secondary Outcome Measures

Identification of additional, potentially pathogenic genetic variants [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 [through study completion- average time approximately 6 months]
Clinical data reveals other features that might associate with the main disease phenotype

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

Inclusion Criteria:

diagnosis of pheochromocytoma and or paraganglioma
family member with diagnosis of pheochromocytoma and or paraganglioma
diagnosis of a pheochromocytoma- and or paraganglioma-associated condition
family member with diagnosis of a pheochromocytoma- and or paraganglioma-associated condition