NIH Clinical Center logo     America's Clinical Research Hospital File folder iconExplore the NIH
Clinical Center
Search the Studies - NIH Clinical Research Studies

Protocol Details

Diagnosis, Pathophysiology, and Molecular Biology of Pheochromocytoma and Paraganglioma

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 7
Max Age: N/A

Referral Letter Required


Population Exclusion(s)


Special Instructions

Currently Not Provided


Multiple Endocrine Neoplasia (MEN);
Von Hippel-Lindau Disease;

Recruitment Keyword(s)




Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Institute of Child Health and Human Development

The goal of this study is to develop better methods of diagnosis, localization, and treatment for pheochromocytomas. These tumors, which usually arise from the adrenal glands, are often difficult to detect with current methods. Pheochromocytomas release chemicals called catecholamines, causing high blood pressure. Undetected, the tumors can lead to severe medical consequences, including stroke, heart attack and sudden death, in situations that would normally pose little or no risk, such as surgery, general anesthesia or childbirth.

Patients with pheochromocytoma may be eligible for this study. Candidates will be screened with a medical history and physical examination, electrocardiogram, and blood and urine tests. Study participants will undergo blood, urine, and imaging tests, described below, to detect pheochromocytoma. If a tumor is found, the patient will be offered surgery. If surgery is not feasible (for example, if there are multiple tumors that cannot be removed), evaluations will continue in follow-up visits. If the tumor cannot be found, the patient will be offered medical treatment and efforts to detect the tumor will continue. Main diagnostic and research tests may include the following:

1. Blood tests - mainly measurements of plasma or urine catecholamines and metanephrines as well as methoxytyramine. If necessary the clonidine suppression test can be carried out.

2. Standard imaging tests - Non-investigational imaging tests include computed tomography (CT), magnetic resonance imaging (MRI), sonography, and 123I-MIBG scintigraphy and FDG (positron emission tomography) PET/CT. These scans may be done before and/or after surgical removal of pheochromocytoma.

3. Research PET scanning is done using an injection of radioactive compounds. Patients may undergo 18F-FDOPA, 18F-DA, as well as 68Ga-DOTATATE PET/CT . Each scan takes up to about 2 hours.

4. Genetic testing - A small blood sample is collected for DNA analysis and other analyses.

--Back to Top--



-Patients are adults or children of any age with known, sporadic or familial PHEO/PGL, on the basis of one or more of the following:

a. High levels of blood or urinary catecholamines, metanephrines, methoxytyramine or chromogranin A.

b. Highly suspected presence of PHEO/PGL based on imaging studies, even with normal biochemistry.

c. Personal or family history of PHEO/PGL or genetic mutations known to predispose individuals to develop PHEO/PGL.

-Normal volunteers over the age of 18 years, including those with normal or high blood pressure, are to be used for reference values regarding biochemical and imaging diagnosis of PHEO/PGL. Normal volunteers with high blood pressure can be on blood pressure medication.

-Patients and normal volunteers can be studied to provide blood/urine samples for biochemical, proteomic, and/or genetic and epigenetic analysis.

-Signed informed consent is required.

-Patients must be willing to return to NIH for follow-up evaluation.

-Patients must have an outside general practitioner or endocrinologist. Patients with metastatic disease must also have an outside oncologist.

-Patients with PHEO/PGL will be accepted through clinician or self- referrals.


Potential patients will be excluded on the basis of one or more of the following:

a. Pregnant (based on a pregnancy test done either outside the NIH or at the NIH) or breastfeeding women

b. Severe cardiac dysfunction

c. Currently on dialysis

d. Patients with impaired mental capacity that precludes informed consent

-A pregnancy test is performed in women of childbearing age (up to age 55). If after enrollment to this protocol, a patient is found to have a positive pregnancy test, her participation in this protocol will be terminated.

-Research scans are contraindicated in patients with proven myelodysplastic syndrome.

Patients who are not willing to return to the NIH (e.g., after surgery or an initial evaluation) for more than 2 years may be removed from the protocol.

-Pregnant and lactating women will not be included in the protocol because their participation as a demographic is not essential to this study. The information we are seeking can be acquired from a cohort of non-pregnant patients. The exclusion of pregnant women does not preclude these patients from receiving appropriate care and management from an outside facility.


-In adult patients:

--Imaging studies are not done in patients that have the following exclusion criteria:

---Pregnant or lactating women,

---Patients with impaired mental capacity that precludes informed consent,

---Patients with a body weight of (Bullet)400 pounds due to weight limitations of PET/CT/MRI scanners or patients who are not able to enter the bore of PET/CT/MRI scanners due to BMI,

Inability to lie still for the entire imaging time (e.g. cough, severe arthritis, etc.),

---Inability to complete the needed investigational and standard-of-care imaging examinations due to other reasons (severe claustrophobia, radiation phobia, etc.),

---Any additional medical conditions, serious illness, or other extenuating circumstance that, in the opinion of the Principal Investigator, may significantly interfere with study compliance.

---Additionally, DCE-MRI is not done in patients with acute or chronic renal insufficiency since gadolinium chelate injection is contraindicated in those patients. In patients where DCE-MRI is considered, a creatinine clearance measurement is performed as a clinically indicated test by the Department of Laboratory Medicine at the NIH Clinical Center. Patients with impaired kidney function will not undergo DCE-MRI. DCE-MRI is also not done in patients with severe claustrophobia or who have iron or metal in the MRI scan site, in patients with pacemakers or defibrillators, or in patients with an allergy to gadolinium.

-In pediatric patients:

--Inclusion criteria for research PET imaging in children

---Children over 10 years old with very high suspicion of sporadic or familial pheochromocytoma/paraganglioma (e.g. the presence of new onset of hypertension or hypertensive episodes, sweating, headaches, pallor, palpitations, drug resistant hypertension, etc.) family history of pheochromocytoma/paraganglioma or genetic mutations known to predispose individuals to develop these tumors, or the presence of a tumor on conventional imaging /ultrasounds, CT, MRI.

---Children must give written informed assent and be willing to return to the NIH for follow-up.

---Female patients of childbearing age must have a negative pregnancy test within 24 hours of any treatment or test involving radioactivity or radiation exposure. They should be abstinent or use appropriate contraception while in the part of the study, which involves radiation.

--Exclusion criteria for research PET imaging in children

---Children of less than 10 years of age,

---Children with impaired mental capacity that precludes informed assent,

---Pregnant or lactating female adolescents,

---Inability to lie still for the entire imaging time (e.g. cough, turbulent children, severe claustrophobia, etc.).

--Back to Top--


Histopathology of benign versus malignant sympathoadrenal paragangliomas: clinicopathologic study of 120 cases including unusual histologic features

Multiple endocrine neoplasia type 2: clinical features and screening

The clinical and screening age-at-onset distribution for the MEN 2 syndrome

--Back to Top--


Principal Investigator

Referral Contact

For more information:

Karel Pacak, M.D.
National Institute of Child Health and Human Development (NICHD)
BG 10-CRC RM 1-3140
(301) 402-4594

Karen T. Adams, C.R.N.P.
National Institute of Child Health and Human Development (NICHD)
BG 10-CRC RM 1-3140
(301) 402-7785

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Clinical Trials Number:


--Back to Top--


Contact the Patient Recruitment and Public Liaison Office for:

  • Details on how to participate in a study
  • Details on how to refer a patient to a study

NIH Clinical Studies Information Request

Contact the Office of Communications for:

  • General information about the NIH Clinical Center

Contact the Department Clinical Research Informatics, (DCRI) for:

  • Technical questions about Adobe Acrobat and the PDF format
  • Technical questions about this web server