Recruiting

Genetic Analysis

Sponsor:

The University of Texas Health Science Center at San Antonio

Code:

NCT03160274

Conditions

Pheochromocytoma

Paraganglioma

Inherited Cancer Syndrome

Associated Conditions

Kidney Neoplasms

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Interventions

Genetic screening

Study Details

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.

Conditions

Pheochromocytoma

Paraganglioma

Inherited Cancer Syndrome

Associated Conditions

Kidney Neoplasms

Study ID

NCT03160274

Start date

Oct 19, 2005

Status verified date

Oct, 2025

Completion date

Dec 31, 2030

Anticipated

Primary completion date

Dec 31, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

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

Enrollment

2000 participants

Anticipated

Interventions and Outcome Measures

Interventions

Genetic screening

Germline and/or tumor samples will be screened for mutations

Primary outcome measure

  • Identification of germline driver mutation [ Time Frame: through study completion- average time approximately 6 months ]
  • Identification of somatic driver mutation [ Time Frame: through study completion- average time approximately 6 months ]

Central Contacts and Locations

Central contacts

Patricia L Dahia, MD,PhD

2105674866dahia@uthscsa.edu

Locations

University of Texas Health Science Center

Recruiting

San Antonio, Texas, United States, 78229

Contacts

Patricia L Dahia

210-567-4866dahia@uthscsa.edu

More Information

Sponsor

The University of Texas Health Science Center at San Antonio

Last update posted

Oct 15, 2025

Last verified

Oct, 2025

Keywords

  • tumor suppressor gene
  • oncogene
  • mutation
  • susceptibility gene

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-07. This information was provided to ClinicalTrials.gov by The University of Texas Health Science Center at San Antonio on 2025-10-15.