Purpose

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.

Conditions

Eligibility

Eligible Ages
All ages
Eligible Genders
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

Exclusion Criteria

  • unconfirmed diagnosis of pheochromocytoma and/or paraganglioma or associated condition

Study Design

Phase
Study Type
Observational [Patient Registry]
Observational Model
Cohort
Time Perspective
Other

Recruiting Locations

University of Texas Health Science Center
San Antonio, Texas 78229
Contact:
Patricia L Dahia
210-567-4866
dahia@uthscsa.edu

More Details

NCT ID
NCT03160274
Status
Recruiting
Sponsor
The University of Texas Health Science Center at San Antonio

Study Contact

Patricia L Dahia, MD,PhD
2105674866
dahia@uthscsa.edu

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.

Notice

Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.