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NCT Number: NCT03160274

Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

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.

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Key information

Conditions

Pheochromocytoma Associated Conditions Bone Cancer Bone Diseases Bone Neoplasms Congenital, Hereditary, and Neonatal Diseases and Abnormalities Endocrine Gland Neoplasms Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Head and Neck Neoplasms Inherited Cancer Syndrome Kidney Diseases Kidney Neoplasms Male Urogenital Diseases Musculoskeletal Diseases Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Germ Cell and Embryonal Neoplasms, Nerve Tissue Neoplastic Syndromes, Hereditary Neuroectodermal Tumors Neuroendocrine Tumors Other Cancer Paraganglioma Thyroid Diseases Thyroid Neoplasms Urogenital Diseases Urogenital Neoplasms Urologic Diseases Urologic Neoplasms

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Texas Health Science Center

San Antonio, Texas, 78229, United States

Location status: Recruiting

Location contact

Patricia L Dahia

CONTACT

[email protected]

210-567-4866

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Genetic Screening

Genetic

Germline and/or tumor samples will be screened for mutations

Primary outcomes

  1. Identification of germline driver mutation

    Time frame: through study completion- average time approximately 6 months

    Genetic screen detects a mutation that is likely responsible for tumor development

  2. Identification of somatic driver mutation

    Time frame: through study completion- average time approximately 6 months

    Genetic screen detects a mutation that is likely responsible for tumor development

Secondary outcomes

  1. Identification of additional, potentially pathogenic genetic variants

    Time frame: through study completion- average time approximately 6 months

    Genetic screen detects other mutations with potential pathogenic effects

  2. Identification of clinical features other than pheochromocytoma and/or paraganglioma that segregate with disease

    Time frame: through study completion- average time approximately 6 months

    Clinical data reveals other features that might associate with the main disease phenotype

Study contacts

Contact information is provided by the study sponsor or research team.

Patricia L Dahia, MD,PhD

CONTACT

[email protected]

2105674866

Sponsors and collaborators

Lead sponsor

The University of Texas Health Science Center at San Antonio

Other

Collaborators

  • National Cancer Institute (NCI)
  • National Institute of General Medical Sciences (NIGMS)
  • The Paradifference Foundation

Registry information

Important dates

Study start
2005
Primary completion
2030
Study completion
2030
First posted
May 19, 2017
Registry last updated
Oct 15, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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