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Trial record 24 of 75 for:    "Carotid body tumor"

Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

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ClinicalTrials.gov Identifier: NCT03160274
Recruitment Status : Recruiting
First Posted : May 19, 2017
Last Update Posted : May 22, 2018
Sponsor:
Information provided by (Responsible Party):
The University of Texas Health Science Center at San Antonio

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.

Condition or disease Intervention/treatment
Pheochromocytoma Paraganglioma Inherited Cancer Syndrome Associated Conditions Kidney Neoplasms Bone Cancer Thyroid Neoplasms Other Cancer Genetic: Genetic screening

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.


Study Type : Observational [Patient Registry]
Estimated Enrollment : 2000 participants
Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration: 30 Years
Official Title: Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions
Actual Study Start Date : October 19, 2005
Estimated Primary Completion Date : December 31, 2030
Estimated Study Completion Date : December 31, 2030



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


Primary Outcome Measures :
  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 Outcome Measures :
  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


Biospecimen Retention:   Samples With DNA

Samples from affected individuals will be obtained as:

  • DNA from peripheral blood lymphocytes,
  • DNA from tumor tissue, or
  • Frozen peripheral blood lymphocytes for nucleic acid purification
  • Frozen tumor tissue for nucleic acid purification
  • Lymphoblastoid cell lines, if available
  • Buccal cells obtained by cheek swab or saliva

Samples from unaffected relatives will be obtained as:

  • DNA from peripheral blood lymphocytes, or
  • Frozen peripheral blood lymphocytes for nucleic acid purification


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
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.
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03160274


Contacts
Contact: Patricia L Dahia, MD,PhD 2105674866 dahia@uthscsa.edu

Locations
United States, Texas
University of Texas Health Science Center Recruiting
San Antonio, Texas, United States, 78229
Contact: Patricia L Dahia    210-567-4866    dahia@uthscsa.edu   
Sponsors and Collaborators
The University of Texas Health Science Center at San Antonio
Investigators
Principal Investigator: Patricia L Dahia, MD, PhD The University of Texas Health Science Center at San Antonio

Publications:
Responsible Party: The University of Texas Health Science Center at San Antonio
ClinicalTrials.gov Identifier: NCT03160274     History of Changes
Other Study ID Numbers: HSC20060069H
First Posted: May 19, 2017    Key Record Dates
Last Update Posted: May 22, 2018
Last Verified: May 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: Aggregate data will be available in the form of publications and pertinent data will be deposited in public depositories

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by The University of Texas Health Science Center at San Antonio:
tumor suppressor gene
oncogene
mutation
susceptibility gene

Additional relevant MeSH terms:
Paraganglioma
Carotid Body Tumor
Paraganglioma, Extra-Adrenal
Neoplasms
Disease
Pheochromocytoma
Kidney Neoplasms
Thyroid Neoplasms
Bone Neoplasms
Osteosarcoma
Neoplastic Syndromes, Hereditary
Pathologic Processes
Neuroendocrine Tumors
Neuroectodermal Tumors
Neoplasms, Germ Cell and Embryonal
Neoplasms by Histologic Type
Neoplasms, Nerve Tissue
Urologic Neoplasms
Urogenital Neoplasms
Neoplasms by Site
Kidney Diseases
Urologic Diseases
Endocrine Gland Neoplasms
Head and Neck Neoplasms
Endocrine System Diseases
Thyroid Diseases
Bone Diseases
Musculoskeletal Diseases
Neoplasms, Bone Tissue
Neoplasms, Connective Tissue