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Protocol Details

Diagnosis, Pathophysiology, and Molecular Biology of Pheochromocytoma and Paraganglioma

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

00-CH-0093

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

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Neurofibromatosis;
Multiple Endocrine Neoplasia (MEN);
Von Hippel-Lindau Disease;
Norepinephrine;
Epinephrine;
Metanephrines;
PET;
Paraganglioma

Recruitment Keyword(s)

Pheochromocytoma

Condition(s)

Pheochromocytoma

Investigational Drug(s)

[18F]-L-3,4-dihydroxyphenylalanine
[18F]-6F-Dopamine
[68Ga]-DOTATATE

Investigational Device(s)

None

Intervention(s)

None

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.

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Eligibility

INCLUSION CRITERIA:

-Patients are adults or children of any age with known or suspected sporadic or familial pheochromocytoma/paraganglioma, or who are known to have or possibly have pheochromocytoma/paraganglioma susceptibility genes carriers, on the basis of one or more of the following:

a. New onset of hypertension or hypertensive episodes and/or symptoms suggestive of pheochromocytoma/paraganglioma (e.g. but not only limited to, sweating, headaches, pallor, palpitations, drug-resistant hypertension).

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

c. Highly suspected presence of pheochromocytoma or paraganglioma based on imaging studies, even with normal biochemistry.

d. Personal or family history of pheochromocytoma/paraganglioma or genetic mutations known to predispose individuals to develop pheochromocytoma/paraganglioma.

-Normal volunteers over the age of 18 years old, including those with normal or high blood pressure, are to be used for reference values regarding biochemical and imaging diagnosis of pheochromocytoma and paraganglioma.

-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 with pheochromocytoma/paraganglioma will be accepted through clinician or self- referrals.

EXCLUSION CRITERIA:

-Imaging studies are not done in pregnant or lactating women. A pregnancy test is performed in women of childbearing age (up to age 55). In those with a positive pregnancy test, no PET and MIBG scanning, contrast CT, DCE-MRI, vena cava sampling, or the clonidine test are performed.

-Pregnant women are excluded from admission to the Clinical Center but may be studied as outpatients.

-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.

SPECIFIC ELIGIBILITY CRITERIA FOR IMAGING STUDIES WITHIN OUR PROTOCOL:

-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.).


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Citations:

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

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Contacts:

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
10 CENTER DR
BETHESDA MD 20814
(301) 402-4594
karel@mail.nih.gov

Karen T. Adams, C.R.N.P.
National Institute of Child Health and Human Development (NICHD)
BG 10-CRC RM 1-3140
10 CENTER DR
BETHESDA MD 20814
(301) 402-7785
adamskt@mail.nih.gov

Patient Recruitment and Public Liaison Office
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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

prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00004847

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