Diagnosis, Pathophysiology, and Molecular Biology of Pheochromocytoma and Paraganglioma
Led by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Updated on 2026-06-03
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What this Trial Is About
Researchers are studying pheochromocytomas and paragangliomas, rare tumors that often develop in the adrenal glands and release chemicals called catecholamines. These tumors can cause high blood pressure and serious health risks such as stroke, heart attack, and sudden death, especially during surgery or childbirth. The study aims to improve diagnosis, localization, and treatment of these tumors using advanced molecular, genetic, and imaging techniques.
The study evaluates various diagnostic methods including blood and urine tests measuring catecholamines and their metabolites, standard imaging like CT, MRI, and specialized PET/CT scans with radioactive compounds such as 18F-DOPA and 18F-6F-DA. Participants with detected tumors may undergo surgery if feasible. If surgery is not an option, ongoing evaluations and medical treatments will be provided. Genetic testing is also performed to analyze DNA and explore tumor predispositions.
Participants undergo comprehensive assessments including medical history, physical exams, electrocardiograms, and multiple imaging scans lasting up to two hours. Blood and urine samples are collected for biochemical and genetic analyses. Researchers monitor tumor characteristics, biochemical profiles, and treatment responses over time. The study also includes follow-up visits for ongoing evaluation, education of healthcare providers and patients, and may continue for many years.
CONDITIONS
Brief Title
Diagnosis of Pheochromocytoma
Who Can Participate
Age: 3Years - 120Years
All Genders
Eligibility Criteria
You may qualify if you...
Patients aged 3 years and older with known, sporadic, or familial pheochromocytoma or paraganglioma
High levels of blood or urinary catecholamines, metanephrines, methoxytyramine, or chromogranin A
Suspicion of pheochromocytoma or paraganglioma based on imaging studies even if biochemistry is normal
Personal or family history of pheochromocytoma or paraganglioma or known genetic variants predisposing to these tumors
Signed informed consent by patient, parent/guardian for children, or legally authorized representative
Patients must have an outside general practitioner or endocrinologist; metastatic patients must have an outside oncologist
Adult family members of patients with suspected hereditary pheochromocytoma/paraganglioma with suspicious hereditary patterns
Children over 10 years old with high suspicion of pheochromocytoma/paraganglioma and ability to give informed assent and return for follow-up
You will not qualify if you...
Pregnant or breastfeeding women
Severe cardiac dysfunction
Patients currently on dialysis
Positive pregnancy test in women of childbearing age leads to exclusion until no longer pregnant or breastfeeding
Patients unwilling to return for follow-up visits for more than 2 years may be removed
Inability to lie still for imaging procedures due to conditions like severe arthritis or cough
Inability to complete imaging exams due to claustrophobia or radiation phobia
Any serious illness or condition that may interfere with study participation
Children under 10 years of age for research PET imaging
Children with impaired mental capacity preventing informed assent
Children unable to lie still for imaging due to behavior or claustrophobia
AI-Screening
AI-Powered Screening
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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)
Diagnostic Evaluation
Duration - Variable based on individual assessment
Participants undergo specialized imaging tests including PET scans using [18F]-DOPA and [18F]-6F-DA, along with CT and MRI scans to diagnose and localize pheochromocytomas and paragangliomas.
1 to 2 visits depending on imaging procedures
Long-term Monitoring
Duration - Up to 2 years or longer
Participants are monitored over time to study genotypes, biochemical markers, imaging phenotypes, and potential treatment options for metastatic cases.
Follow-up visits as scheduled over the monitoring period
Sporadic Primary Pheochromocytoma: A Prospective Intraindividual Comparison of Six Imaging Tests (CT, MRI, and PET/CT Using 68Ga-DOTATATE, FDG, 18F-FDOPA, and 18F-FDA).
Abhishek Jha, Mayank Patel, Jorge A Carrasquillo...