Neoplasms

All Conditions

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Skin and Connective Tissue Diseases

Gland and Hormone Related Diseases

Leiomyoma

Infertility

Myofibroma

Endometriosis

Endocrine System Diseases

Genital Diseases

Urogenital Diseases

Genital Diseases, Female

Female Urogenital Diseases

Pregnancy Complications

Female Urogenital Diseases and Pregnancy Complications

Neoplasms, Connective and Soft Tissue

Neoplasms by Histologic Type

All Drugs and Chemicals

Hormones

Alan H DeCherney, M.D.

This study was designed to allow inpatient and outpatient evaluation of women with a variety of reproductive and endocrine-related disorders for purposes of research and physician education.

The evaluations may include ultrasound examinations, blood, saliva, and/or urine samples. In some cases, specific laboratory or X-ray studies will be performed to confirm the diagnosis or assist in the treatment of the patient. These additional tests will be conducted within the guidelines of current gynecologic practice. In some cases, the patient will receive medical or surgical treatment for their disorder.

The purpose of this study is to provide an opportunity for physicians to evaluate women with medical conditions of reproduction. These evaluations and treatments will support clinical training and research for the accredited training program in reproductive endocrinology at the National Institute of Child Health and Human Development (NICHD).\<TAB\>

The specific objective of this protocol is to gain knowledge and collect data in order to allow for hypothesis generation in future research as well as give NICHD investigators and trainees hands on experience related to the diagnoses, management, treatment and follow-up of reproductive endocrine disorders. Such disorders include but are not limited to Polycystic ovarian syndrome, Endometriosis, Primary ovarian insufficiency, Recurrent pregnancy loss, Primary amenorrhea and Infertility. This information will be taken from standard medical care/procedures and follow up of patients and healthy volunteers. It allows investigation into the problems of these patients for the purpose of furthering general knowledge and teaching.

Evaluation of Women With Endocrine and Reproductive-Related Conditions

Evaluation of Women and Men With Endocrine and Reproductive-Related Conditions

To provide a mechanism for reproductive endocrine fellows and staff to evaluate woman with medical conditions of interest for fellow training and clinical training and education.

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Rare Diseases

Pheochromocytoma

Paraganglioma

Neuroendocrine Tumors

Neuroectodermal Tumors

Neuroectodermal Tumors, Primitive

Neoplasms, Germ Cell and Embryonal

Neoplasms, Nerve Tissue

Paragangliomas 1

Neuroendocrine Tumor

Neuroepithelioma

Anti-Dyskinesia Agents

Vasoconstrictor Agents

Respiratory System Agents

Cardiotonic Agents

Levodopa

Epinephrine

Norepinephrine

Dopamine

Racepinephrine

Epinephryl borate

Dihydroxyphenylalanine

Serotonin

Patients are adults or children of any age with known, sporadic or familial PHEO/PGL

is L 3, 4 dihydroxyphenylalanine (L-DOPA) labeled with the radioactive isotope 18F. In general, PPGLs belong to the group of neuroendocrine tumors. This heterogeneous group of tumors takes up amino acids, transforms them into biogenic amines (dopamine and serotonin) by decarboxylation and stores the amines in vesicles. L DOPA is a precursor of catecholamines (dopamine, norepinephrine and epinephrine). Epinephrine conversion to dopamine is catalyzed by the aromatic amino acid decarboxylase. According to previous and current studies, \[18F\]-DOPA PET is highly sensitive and specific for detection of PHEO/PGL67-69. However, there are only a few reports in the literature using \[18F\]-DOPA as a PET agent and particularly for patients with metastatic PPGLs. PET imaging will be done together with either a CT, an MRI or both modalities.

([18F]-DOPA)

is an imaging agent developed at the NIH, that may improve specificity and sensitivity in the localization of PPGLs. \[18F\]-6F-DA enters cells via the membrane norepinephrine transporter. Once inside cells, \[18F\]-6F-DA is translocated via the vesicular monoamine transporter into storage vesicles, where the radioactivity is concentrated. After injection of \[18F\]-6F-DA, the much faster disappearance of \[18F\]-6F-DA-derived radioactivity from the bloodstream and non-neuronal cells than from chromaffin cells should enable rapid visualization of PPGLs by PET scanning.

([18F]-6F-DA)

Alberta Derkyi, C.R.N.P.

Karel Pacak, M.D.

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

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.

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare and clinically important chromaffin cell tumors that typically arise from the adrenal gland or from extra-adrenal paraganglia, respectively. The clinical features and consequences of PHEO/PGL result from the release of catecholamines (norepinephrine and/or epinephrine). An undetected PHEO/PGL poses a hazard to patients undergoing surgery, childbirth, or general anesthesia, due to the potential for excess catecholamine secretion, which can result in significant, often catastrophic outcomes. Diagnosing and localizing a PHEO/PGL can be challenging. Plasma and urinary catecholamines as well as their metabolites and radio-iodinated metaiodobenzylguanidine (MIBG) scanning can yield false-positive/negative results in patients harboring the tumor. Computed tomography (CT) and magnetic resonance imaging (MRI) lack sufficient specificity. The molecular mechanisms by which genotypic changes predispose to the development of PHEO/PGL remain unknown - even in patients with identified pathogenic variants. Moreover, in patients with hereditary predispositions, PHEOs/PGLs differ in terms of their growth, malignant potential, catecholamine phenotype, responses to standard screening tests, various imaging modalities and therefore subsequently, different therapeutic options. This protocol focuses on developmental, molecular, genetic, epigenetic, proteomic, metabolomics, immunologic and other types of studies to investigate the bases for predisposition to develop PHEOs/PGLs and for expression of different neurochemical and other phenotypes and malignant potentials including therapeutic responses. Furthermore, this protocol will also use new imaging approaches, for example \[18F\]-6F-dopamine (\[18F\]-6F-DA), and \[18F\]-L-3,4-dihydroxyphenylalanine (\[18F\]-FDOPA) positron emission tomography (PET)/CT, as well as dynamic contrast-enhanced MRI.

Diagnosis of Pheochromocytoma

Diagnosis, Pathophysiology, and Molecular Biology of Pheochromocytoma and Paraganglioma

To study specific genotypes, biochemical and imaging phenotypes of patients with various pheochromocytomas and paragangliomas.To stuty potential treatment options for metastatic pheochromocytoma and paraganglioma using cell cultures, cell lines, animal

To educate health care professionals and patients about pheochromocytoma and paraganglioma

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization	Link
Evaluation of Women With Endocrine and Reproductive-Related Conditions	NCT00001850	Endocrine Disea... Infertility Leiomyoma Endometriosis Fibroids		1 Year - 85 Years	National Institutes of Health Clinical Center (CC)
Diagnosis of Pheochromocytoma	NCT00004847	Pheochromocytom... Endocrine Disea... Endocrine Disea...	([18F]-DOPA) ([18F]-6F-DA)	3 Years - 120 Years	National Institutes of Health Clinical Center (CC)

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