View clinical trials related to Multiple Endocrine Neoplasia.
Filter by:Retrospectively review the clinical characteristics of patients with multiple endocrine neoplasia type I in National Taiwan University Hospital.
The present study aims to evaluate the feasibility, safety and efficacy of EUS-FNI for MEN1-related pNETs
Patients with the Multiple Endocrine Neoplasia type 1 (MEN1) syndrome are genetically predisposed for developping multiple pancreatic neuro-endocrine tumours (pNET). The management of small (pNET) in both MEN1 and sporadic cases, pose a major clinical challenge. At present, pancreatic surgery is the only curative treatment but it is associated with high morbidity. To reduce the morbidity ascosiated with surgery and thereby potentially improve quality of life for MEN1 patients introduction of less invasive techniques for treatment of pNET is important. High-dose-high precision MR-guided radiotherapy (MRgRT) holds promise as a new less invasive treatment option for pNET. The aim of this study is to assess efficiacy and safety of MRgRT for treatment of pNET in MEN1 patients.
Background: Parathyroid disorders are very common in the general population and include disorders of parathyroid excess, deficiency, or defects in parathyroid hormone (PTH) signaling. PTH, the main secretory product of parathyroid glands is responsible for regulation of calcium-phosphate homeostasis. Objective: i) To investigate the cause of parathyroid disorders ii) To describe evolution, natural history, and longitudinal trends of parathyroid and related disorders seen in syndromic presentations like multiple endocrine neoplasia, hyperparathyroidism-jaw tumor syndrome Eligibility: People ages 6 months older who have, are at risk of having, or are related to a person with a parathyroid or related disorder. Design: Participants will be screened with a review of their medical records. Participants will be seen, tested, and treated by doctors based on their condition. Their visits may be in person or via telehealth. Participants will complete questionnaires. They will answer questions about their physical, mental, and social health. Participants may give samples such as saliva, blood, urine, or stool. Participants may give cheek cell samples. They will do this using a cheek swab or by spitting into a cup. Adult participants may give a skin biopsy. For this, a small bit of skin is removed with a punch tool. Participants may have medical photos taken. If participants have surgery during the course of their regular care either at the NIH or at a different hospital or doctor s office, researchers will ask for some of the leftover tissue. Participants will be in the study as long as they are being seen by their doctor.
This study is to collect and validate regulatory-grade real-world data (RWD) in oncology using the novel, Master Observational Trial construct. This data can be then used in real-world evidence (RWE) generation. It will also create reusable infrastructure to allow creation or affiliation with many additional RWD/RWE efforts both prospective and retrospective in nature.
Multiple Endocrine Neoplasia Type I (MEN1) is a rare autosomal dominant disorder, predisposing sufferers to the development of endocrine tumors. The three most commont endocrine disorders of MEN1 are the secretory tumours of the parathyroid, pituitary gland and pancreas, in addition to which other tumours may be observed. The diagnosis of MEN1 is essential for 1) appropriate therapeutic management of proven endocrine disorders, 2) screening for other endocrine and non-endocrine tumours, 3) family screening of affected relatives and 4) monitoring of patients who have been diagnosed. Undiagnosed MEN1 is one of the reasons for therapeutic failure in the management of endocrine damage. Detection is therefore of major importance, and any improvement in early diagnosis can improve management. The natural history of the disease in all its clinical forms remains poorly understood, with published studies of selected or small populations. There are still clinical forms that are difficult to link to the syndrome. These clinical forms need to be specified in order to ensure optimal management. Only a large cohort will lead to the identification of the various forms of this condition and clarify its prognosis.
Multiple Endocrine Neoplasia type I (MEN1) or Wermer syndrome is an autosomal dominant disease that predisposes patients to the development of endocrine tumours, principally parathyroid, pituitary or duodenal-pancreatic tumours. It is due to mutations that abolish the function of the MEN1 gene, which contributes to tumour regulation. It is a rare disease, with an estimated prevalence in the general population of 1/30,000. Penetrance of the disease is late but very high (almost 100% at 50 years of age). The first clinical manifestations usually appear after the age of 30 or 40 years. The three cardinal endocrine characteristics of MEN1 are secreting tumours of the parathyroid, the pituitary gland and the pancreas. Tumours of the adrenal glands, bronchial or thymic endocrine tumours, ependymoma and meningioma of the central nervous system, visceral leiomyomas, and certain cutaneous tumours can also be found as well as these cardinal tumours. The diagnosis of MEN1 is essential to ensure 1) appropriate therapeutic management of the proven endocrine manifestations 2) screening for other endocrine and non-endocrine tumours (lesions), 3) family screening of affected relatives whether they are symptomatic or not 4) the surveillance of thus diagnosed patients. Studies on mortality in MEN1 have shown that the causes of death are mainly due to the disease. The non-diagnosis of MEN1 is a cause of therapeutic failure in the management of the endocrine lesions. For the success of the surgical treatment of an isolated endocrine lesion it is important for patients to be oriented towards a diagnosis of MEN1 as the management is different from that in usual situations. Detection is thus of major importance, as early diagnosis can improve the management. Even though the syndrome was discovered in 1903 by Erdheim and correctly documented in 1954 by Wermer, it was only in the 1970s that we became aware of the variety of clinical forms and attempted to codify its treatment. Nonetheless, published studies are fragmented and concern selected populations of few patients. They only partially answer questions arising in clinical practice concerning the prognosis and optimal management of patients. The natural history of the disease in all of its clinical forms is still poorly understood. Although advances in genetics have helped in the diagnosis of MEN1, some clinical forms are still difficult to associate with the syndrome: atypical forms, forms with hardly any symptoms and no genetic diagnosis (10%). These clinical forms need to be clarified to ensure optimal care. Only a large cohort will make it possible to describe the different forms of this disease and to clarify its prognosis
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 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.