PheochromocytomaNCT03160274
Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions
An observational study of Pheochromocytoma and Paraganglioma, run by The University of Texas Health Science Center at San Antonio at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Pheochromocytoma, Paraganglioma, Inherited Cancer Syndrome
- What is being tested?
- Genetic screening
- How many people
- 2,000 participants
- Where
- 1 siteUnited States
- Study dates
- 19 Oct 2005to 31 Dec 2030
- How long will I take part?
- 30 Years
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Individuals must have confirmed personal or family history of pheochromocytoma, paraganglioma or associated conditions. Relatives of patients with pheochromocytoma and/or paraganglioma are also eligible. Consent form will be obtained from all patients. It is expected that a number of participants in the study will be from outside our institution and also outside U.S.
Who may be able to join
- 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
Who cannot join
- unconfirmed diagnosis of pheochromocytoma and/or paraganglioma or associated condition
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of Texas Health Science Center
San Antonio, Texas, 78229
Patricia L Dahia, 210-567-4866, dahia@uthscsa.edu
About this study
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.
Read the 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.
- Conditions
- Pheochromocytoma, Paraganglioma, Inherited Cancer Syndrome, Associated Conditions, Kidney Neoplasms, Bone Cancer
- Being tested
- Genetic screening
- Keywords
- tumor suppressor gene, oncogene, mutation, susceptibility gene
- Medical subject headings
- Pheochromocytoma, Paraganglioma, Neoplastic Syndromes, Hereditary, Kidney Neoplasms, Bone Neoplasms, Thyroid Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic screeningGenetic
Germline and/or tumor samples will be screened for mutations
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of germline driver mutation
Genetic screen detects a mutation that is likely responsible for tumor development
Measured: through study completion- average time approximately 6 months
Identification of somatic driver mutation
Genetic screen detects a mutation that is likely responsible for tumor development
Measured: through study completion- average time approximately 6 months
Secondary outcomes (2)
Identification of additional, potentially pathogenic genetic variants
Genetic screen detects other mutations with potential pathogenic effects
Measured: through study completion- average time approximately 6 months
Identification of clinical features other than pheochromocytoma and/or paraganglioma that segregate with disease
Clinical data reveals other features that might associate with the main disease phenotype
Measured: through study completion- average time approximately 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 May 2017
- Study start19 Oct 2005
- Primary completion31 Dec 2030 (estimated)
- Study completion31 Dec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for PheochromocytomaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 2,000 participants (estimated)
- Target duration
- 30 Years
Sponsor and investigators
- Lead sponsor
- The University of Texas Health Science Center at San Antonio
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute of General Medical Sciences (NIGMS), The Paradifference Foundation, National Cancer Institute (NCI)
- Responsible party
- Sponsor
- Investigators
- Patricia L Dahia, MD, PhD, Principal investigator, The University of Texas Health Science Center at San Antonio
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03160274
- Sponsor's protocol ID
- HSC20060069H
- Other IDs
- 5R01GM114102, R01CA264248-04S2
- Status last verified
- Oct 2025
- First submitted
- 5 May 2017
- Last updated
- 15 Oct 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Aggregate data will be available in the form of publications and pertinent data will be deposited in public depositories
Publications
Dahia PL. Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity. Nat Rev Cancer. 2014 Feb;14(2):108-19. doi: 10.1038/nrc3648. Epub 2014 Jan 20.
PubMed 24442145