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Genetic Analysis of Pheochromocytomas and Paragangliomas and Associated Disorders
Trial Status: active
This study seeks to create a research repository to store materials that can be used in research to help find out more about genetic changes that make people more susceptible to developing pheochromocytomas.
Inclusion Criteria
* Individuals must have a personal or family history of pheochromocytoma
* Patients must fulfill standard diagnostic criteria for pheochromocytoma
* Familial pheochromocytoma will be defined by the occurrence of pheochromocytoma in at least two individuals from the same family
* If prior molecular screen is not available we will perform an analysis of the pheochromocytoma susceptibility genes (namely, RET, VHL, SDHB, SDHC, SDHD, and also TMEM127, SDHAF2, SDHA)
* Diagnosis of pheochromocytoma will be made by the patients' health care providers or a local investigator in their institution of origin
* Individuals who are under 18 are eligible for study if they meet the criteria described above
* Consent for participation must be given by both parents or legal guardian(s)
* Deceased patients may be included in the study
* Signed informed consent must be obtained for each portion of the study
Additional locations may be listed on ClinicalTrials.gov for NCT03160274.
I. To try to map the pheochromocytoma susceptibility gene by studying such families.
II. To attempt to delineate genotype-phenotype correlations in a large group of pheochromocytomas, including those where a mutation in a known pheochromocytoma-susceptibility (RET, VHL, SDHB, SDHC, SDHD) gene has been identified.
OUTLINE: This is an observational study.
Participants undergo collection of blood, buccal, saliva, and fresh and/or archived tumor tissue samples, and may complete a survey on study. Patients also have their medical records reviewed on study.
Trial PhaseNo phase specified
Trial Typeprevention
Lead OrganizationUniversity of Texas Health Science Center at San Antonio
