Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions
The University of Texas Health Science Center at San Antonio
2,000 participants
Oct 19, 2005
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria4
- 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 Criteria1
- unconfirmed diagnosis of pheochromocytoma and/or paraganglioma or associated condition
Interventions
Germline and/or tumor samples will be screened for mutations
Locations(1)
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NCT03160274