View clinical trials related to Multiple Endocrine Neoplasia.
Filter by:Type 1 - Multiple Endocrine Neoplasia syndrome (MEN1,) is an autosomal dominant disorder secondary to MEN1 mutations that predisposes carriers to endocrine tumors. The MEN1 gene located on chromosome 11q13 encodes menin, a 610 amino acid protein expressed in all tissues tested. Menin is a scaffold protein which interacts with a large number of intracellular molecules. MEN1 disease may display various clinical associations The tumors mainly develop from endocrine tissues and may arise from parathyroid glands, duodeno-pancreas, pituitary gland, adrenal glands, and at a lower frequency from the bronchi and thymus. The penetrance is very progressive but ultimately high during a lifespan. Although the syndrome was discovered in 1903 by Erdheim and properly documented in 1954 by Wermer, it was only in the 1970s that the variety of clinical presentations was acknowledged and first attempts to codify treatments were made. Most published studies deals with selected and small size populations. Thus, many aspects of the natural history of MEN1 remains unknown as well as the optimal care of patients. In addition, although advances in genetics improved the diagnosis of MEN1, there are still clinical forms whose attachment to the syndrome is difficult: atypical, paucisymptomatic, forms the negative genetic diagnosis (10%). These clinical forms need to be clarified to ensure optimum support. This cohort relies on the Groupe d'étude des Tumeurs Endocrines (GTE) network for MEN1, created in February 1991, and brings together clinical centers in France and Belgium (n=80) as well as the four genetics laboratories in charge of MEN1 diagnosis. It aims at improving the knowledge of the MEN1mainly in describing: - its evolution over time globally and according to the initial presentation, ( particularly accounting the risk of the occurrence of secondary MEN1 related or unrelated tumors, and death) - the genotype-phenotype correlations and heritability of the disease - the real life management of patients and its impact on cure and survival for each type of MEN1-related tumor - the impact of the NEM on the patients' daily lives, their perception of the disease and their satisfaction with their care
The purpose of this study is to evaluate the safety and effectiveness (how well a drug works) of Carbidopa/levodopa (Sinemet) in individuals with Angelman syndrome. Sinemet is a medication that helps to raise dopamine levels (a chemical that signals nerve cells) in the brain and central nervous system. There is evidence that dopamine concentrations may be abnormal in patients with Angelman syndrome. This study is investigating whether Sinemet helps motor control, intellectual function and the achievement of developmental milestones in people with Angelman syndrome
The study aims to identify predictors of disease in patients with hyperparathyroidism (HPTH) who undergo surgery.
NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility criteria for this study as shown in the Eligibility Section, you may enroll regardless of the results of your clinical genetic testing. While it is well recognized that hereditary factors contribute to the development of a subset of human cancers, the cause for many cancers remains unknown. The application of next generation sequencing (NGS) technologies has expanded knowledge in the field of hereditary cancer predisposition. Currently, more than 100 cancer predisposing genes have been identified, and it is now estimated that approximately 10% of all cancer patients have an underlying genetic predisposition. The purpose of this protocol is to identify novel cancer predisposing genes and/or genetic variants. For this study, the investigators will establish a Data Registry linked to a Repository of biological samples. Health information, blood samples and occasionally leftover tumor samples will be collected from individuals with familial cancer. The investigators will use NGS approaches to find changes in genes that may be important in the development of familial cancer. The information gained from this study may provide new and better ways to diagnose and care for people with hereditary cancer. PRIMARY OBJECTIVE: - Establish a registry of families with clustering of cancer in which clinical data are linked to a repository of cryopreserved blood cells, germline DNA, and tumor tissues from the proband and other family members. SECONDARY OBJECTIVE: - Identify novel cancer predisposing genes and/or genetic variants in families with clustering of cancer for which the underlying genetic basis is unknown.
Objectives: To contribute new and prospective data to our existing database library for patients with MEN1 and MEN2 at The University of Texas M.D. Anderson Cancer Center.
Objectives: The aim of the present study is to assess the significance of metabolomics and genetics in diagnosing and survival evaluation for pNET in the periodic follow-up of MEN1 patients. Aim 1: To evaluate the relationship of serum global metabolic profiles with subsequent development of aggressive PNET and evaluate patients survival in a nested case-control study of MEN1 patients who have developed aggressive PNETs (cases) and MEN1 patients who have developed non-aggressive PNETs (controls). Aim 2: Validate the top serum metabolites identified from Aim 1 in MEN1 patients who have developed aggressive PNETs and MEN1 patients who have developed non-aggressive PNETs, using a targeted metabolomics approach. Aim 3: Prospectively identify the potential miRNA biomarkers of serum with miRNA sequencing in MEN1 patients who have developed aggressive PNETs (cases) and MEN1 patients who have developed non-aggressive PNETs (controls). Aim 4: Validate the potential miRNA biomarkers identified from Aim 1 in MEN1 patients who have developed aggressive PNETs and in MEN1 patients who have developed non-aggressive PNETs, using a targeted qRT-PCR approach (in serums), as well as to see the relationship of potential miRNA biomarkers with patients survival.
This trial studies how well gallium Ga 68-edotreotide (68Ga-DOTA-TOC) positron emission tomography (PET)/computer tomography (CT) works in imaging participants with neuroendocrine tumors. 68Ga-DOTA-TOC is used as a tracer chemical during PET/CT scans. Diagnostic procedures, such as 68Ga-DOTA-TOC PET/CT, may help find and diagnose neuroendocrine tumors.
This phase I trial studies the side effects and best dose of veliparib when given together with capecitabine and temozolomide in treating patients with neuroendocrine tumor that has spread to other places in the body and usually cannot be cured or controlled with treatment, has returned after a period of improvement, and cannot be removed by surgery. Veliparib may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth. Drugs used in chemotherapy, such as capecitabine and temozolomide, work in different ways to stop the growth of tumor cells, either by killing the cells, by stopping them from dividing, or by stopping them from spreading.
A.Background More than 90% of patients with multiple endocrine neoplasia type 1 (MEN1) develop multiple pancreatic neuroendocrine tumors (pNETs). These tumors are the most common cause for premature death in MEN1. While functioning pNETs must be treated to reduce or cure hormonal excess, the procedures for non-functioning pNETs are yet under discussion. Treatment ranges from watchful waiting to subtotal and total pancreatectomy. The latter may represent an "overtreatment", resulting in general complications and diabetic metabolic status. The effect of somatostatin analogues (SAs) has shown promising results with regard to progression of non-functioning duodeno-pancreatic NETs. Treatment with SAs is highly safe and effective, resulting in long-time suppression of tumor growth. B. Aim In this study of MEN1 patients with non-functioning pNETs, the benefits of somatostatin analogs" (SAs; group 1) compared to "no treatment" (group 2) will be analyzed with regard to progression (tumor growth; development of new [functioning and non-functioning] neuroendocrine tumors and regional/distant metastasis). C. Implementation Patients will either receive Somatostatin Analogs (SAs) or no treatment. The observation period will be 60 months. The increase of tumor size and development of new tumors or metastasis will be monitored.
This phase II trial studies ziv-aflibercept in treating and perfusion computed tomography perfusion imaging in predicting response in patients with pancreatic neuroendocrine tumors that have spread to other parts of the body or cannot be removed by surgery. Ziv-aflibercept may stop the growth of tumor cells by blocking blood flow to the tumor. Diagnostic procedures, such as computed tomography perfusion, imaging may help measure a patient's response to ziv-aflibercept treatment.