Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity.
Patricia L M Dahia
https://pubmed.ncbi.nlm.nih.gov/24442145Actively Recruiting
All Genders
Healthy Volunteers
ID03160274
Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions
Led by The University of Texas Health Science Center at San Antonio · Updated on 2025-10-15
2000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
T
The University of Texas Health Science Center at San Antonio
Lead Sponsor
N
National Institute of General Medical Sciences (NIGMS)
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying pheochromocytomas and paragangliomas, which are tumors arising from nerve-related cells that often run in families and have varied genetic causes. The study aims to find new genes involved in these tumors and to understand how specific genetic changes relate to disease features, helping guide diagnosis and follow-up care for patients and their relatives. This research focuses on improving knowledge about inherited cancer syndromes linked to these tumors. Participants will provide germline and/or tumor samples for genetic screening to detect mutations. The study will analyze these genetic samples to identify both inherited and tumor-specific mutations that may drive tumor development. This observational study does not involve treatments but collects data to map genetic variations and their clinical impacts. During the study, researchers will review genetic data and clinical features from participants and their families. Outcomes include identifying mutations and related genetic variants, as well as other clinical signs associated with these conditions. The study typically takes around six months to complete the genetic analyses and will help improve genetic screening and monitoring strategies for affected individuals and at-risk family members.
CONDITIONS
Brief Title
Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions
Who Can Participate
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- 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
You will not qualify if you...
- Unconfirmed diagnosis of pheochromocytoma and/or paraganglioma or associated condition
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
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Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Genetic Screening
Duration - Up to 6 months
Participants provide germline and/or tumor samples which are screened for mutations to identify genetic variants associated with pheochromocytoma, paraganglioma, and related conditions.
1 visit for sample collection
Long-term Monitoring
Duration - Up to study completion (approximately 6 months total)
Participants are observed over time to characterize relationships between genetic mutations and clinical features, aiding clinical surveillance and screening of at-risk individuals.
Follow-up visits as needed
Trial Site Locations
Total: 1 location
1
University of Texas Health Science Center
San Antonio, Texas, United States, 78229
Actively Recruiting
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Research Team
P
Patricia L Dahia, MD,PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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