Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

Pheochromocytoma Clinical Trial

Official title:

Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03160274
• Other study ID #: HSC20060069H
• Secondary ID: 5R01GM114102
• Status: Recruiting
• Start date: October 19, 2005
• Est. completion date: December 31, 2030

Study information

• Verified date: September 2023
• Source: The University of Texas Health Science Center at San Antonio
• Contact: Patricia L Dahia, MD,PhD
• Phone: 2105674866
• Email: dahia[@]uthscsa.edu
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical 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. 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 2000
• Est. completion date: December 31, 2030
• Est. primary completion date: December 31, 2030
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Associated Conditions
• Bone Cancer
• Bone Neoplasms
• Disease
• Inherited Cancer Syndrome
• Kidney Neoplasms
• Neoplasms
• Neoplastic Syndromes, Hereditary
• Other Cancer
• Paraganglioma
• Pheochromocytoma
• Thyroid Neoplasms

Intervention

Genetic:
• Genetic screening
Germline and/or tumor samples will be screened for mutations

Locations

Country	Name	City	State
United States	University of Texas Health Science Center	San Antonio	Texas

Sponsors (2)

Lead Sponsor	Collaborator
The University of Texas Health Science Center at San Antonio	National Institute of General Medical Sciences (NIGMS)

Country where clinical trial is conducted

United States, 

References & Publications (1)

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of germline driver mutation	Genetic screen detects a mutation that is likely responsible for tumor development	through study completion- average time approximately 6 months
Primary	Identification of somatic driver mutation	Genetic screen detects a mutation that is likely responsible for tumor development	through study completion- average time approximately 6 months
Secondary	Identification of additional, potentially pathogenic genetic variants	Genetic screen detects other mutations with potential pathogenic effects	through study completion- average time approximately 6 months
Secondary	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	through study completion- average time approximately 6 months