[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"familial-isolated-pituitary-adenoma\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:familial-isolated-pituitary-adenoma":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,48],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":29,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":36,"lastUpdatePostDateStruct":37,"startDateStruct":40,"completionDateStruct":42,"leadSponsor":44,"locationsCount":47},"100092282","genetics-of-endocrine-tumours---familial-isolated-pituitary-adenoma---fipa-100092282",false,"NCT00461188","Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA","Inclusion Criteria:\n\n* Familial acromegaly or other type of pituitary tumour OR\n* Early onset acromegaly or\n* Sporadic pituitary tumour\n\nExclusion Criteria:\n\n* Do not consent","ALL","6 Years",{"count":18,"type":19},10000,"ESTIMATED","OBSERVATIONAL","The research is aimed at identifying new predisposition genes for endocrine tumours. Our focus initially is on pituitary adenomas including growth hormone-secreting tumors (somatotrophinomas) and prolactin secreting tumours (prolactinomas), but we wish to extend work to other pituitary tumour cases\u002Ffamilies.\n\nThe recruitment process will be as follows.\n\n1. We will recruit patients from our own Endocrine outpatient clinics and inpatient wards. In addition we will ask colleagues in other Endocrinology Departments (or other specialties such as Clinical Genetics,Pathology, General Medicine ) to identify potentially suitable patients with endocrine \\& pituitary tumours from their records. We shall focus on patients with good evidence of inheritance of their condition: relatively early onset; or multiple lesions; or other affected family members. Conditions where the predisposing genes have been identified (principally MEN) will be excluded from study. Patients directly contacting us can also enter the study.\n2. The Consultant looking after the patient will contact the patient to initially inform him\u002Fher of the study.\n3. We will then contact the patient (generally by telephone) to discuss the study and what it would entail in terms of information and samples.\n4. Subject to agreement in (3), patient will receive 'Information Sheet for patients with pituitary tumour' and 'Consent Form' and will have blood sampling in Consultant's clinic.\n5. We will contact additional family members (if appropriate) after an initial approach by the family member already recruited to the study. The additional family members may have developed tumours similar to those of the proband, or may be unaffected individuals who provide useful information for gene identification purposes (for example, spouses may greatly aid the power of gene mapping by linkage. They will receive the \"Information Sheet for family members\". analysis).\n\n8\\. Archival tissue will be obtained from HTA licensed tissue banks. This is an established bank whose licence is primarily for diagnosis but can be used for research. 9. We will undertake laboratory work, such as genetic linkage analysis, candidate gene mutation screening and studies of loss of heterozygosity in tumours, to identify the genes predisposing to the condition, such as the AIP gene. In addition we would like to screen other genes related to the chaperon AIP molecule, such as AhR, and other genes currently identified (PDE4A5, survivin and Tom20 protein) or may not been identified.\n\nBlood samples for DNA and RNA will coded with unique ID numbers. Pituitary and other endocrine tumour samples will be collected at surgery and kept in liquid nitrogen or -80 C. They will be coded with unique ID numbers. Candidate gene sequencing will be performed in the Barts and the London Medical School Genome Centre.\n\nRNA expression studies from blood or adenoma tissue samples will be performed by RT-PCR. Protein expression studies will be performed by Western blotting or immunohistochemistry. The first gene we wish to study causes familial acromegaly, a disease resulting from a pituitary adenoma secreting growth hormone.\n\nTo establish if the candidate gene is also causing possibly sporadic (not familial) cases of the disease, samples (blood and tissue) will be collected from patients with sporadic disease and will be analysed as above.",[23,24,25,26,27,28],"Acromegaly","Gigantism","Familial Isolated Pituitary Adenoma","FIPA","Pituitary Adenoma Predisposition","PAP",[30,31,32,33,25,26,34,28],"acromegaly","gigantism","familial pituitary adenoma","Familial acromegaly","Pituitary adenoma predisposition","RECRUITING","2026-05-18",{"date":38,"type":39},"2026-05-20","ACTUAL",{"date":41,"type":39},"2007-03-01",{"date":43,"type":19},"2037-12-31",{"name":45,"class":46},"Barts & The London NHS Trust","OTHER",3,{"id":49,"slug":50,"hasResults":11,"nctId":51,"briefTitle":52,"officialTitle":52,"acronym":4,"eligibilityCriteria":53,"healthyVolunteers":54,"sex":15,"minAge":55,"maxAge":4,"enrollmentInfo":56,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":58,"conditions":59,"keywords":4,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":85,"lastUpdatePostDateStruct":86,"startDateStruct":88,"completionDateStruct":90,"leadSponsor":92,"locationsCount":47},"100556321","genetic-bases-of-neuroendocrine-neoplasms-in-mexican-patients-100556321","NCT06523582","Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients","Inclusion Criteria:\n\nAdult patients with a new or previous clinical diagnosis of any of the following conditions:\n\n* Isolated NENs with sporadic presentation, including bronchopulmonary NENs, gastrointestinal NENs, medullary thyroid carcinoma, pancreatic NENs, paragangliomas, pheochromocytomas, pituitary neuroendocrine tumors, and primary hyperparathyroidism.\n* Familial isolated NENs, including familial isolated pituitary adenoma, familial pheochromocytomas and paragangliomas, familial primary hyperparathyroidism, familial gastrointestinal stromal tumors and X-linked acrogigantism.\n* Clinical syndromes encompassing NENs, with familial or sporadic presentation, including Carney complex, Carney-Stratakis syndrome, Carney triad, Cowden syndrome, DICER1 syndrome, Li-Fraumeni syndrome, Lynch syndrome, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, multiple endocrine neoplasia type 4, neurofibromatosis type 1, Pacak-Zhuang syndrome, paraganglioma, pheochromocytoma and pituitary adenoma syndrome, tuberous sclerosis complex, Von Hippel Lindau syndrome.\n\nExclusion criteria:\n\n* Age \\\u003C18 years.\n* Refusal to give informed consent.",true,"18 Years",{"count":57,"type":19},750,"Neuroendocrine neoplasms (NENs) are a heterogeneous group of lesions derived from cells with the ability to produce hormones that may arise from multiple different organs. Their clinical behavior is quite variable, encompassing both benign lesions and aggressive tumors that invade surrounding and\u002For distant structures. NENs may also cause serious morbidity due to hormone oversecretion. NENs are among the most frequently inherited human tumors, presenting either isolated or as part of syndromes in which a single patient or family develops multiple tumors. There are also non-inherited changes in the genetic information of the tumor cells that are potential targets for treatment. Both inherited and non-inherited DNA defects can be identified using modern routine genetic tests which, unfortunately, are not widely available in Mexico.\n\nThis project seeks to uncover the genetic defects causing NENs in a large cohort of Mexican patients, using three different methods for genetic testing. Adult individuals with various types of NENs from two reference hospitals in Mexico City will be invited to participate. After completing informed consent, blood and, if possible, tissue samples will be obtained from all participants. Clinical details, laboratory results, imaging studies, and histopathological data at disease presentation will be retrieved.\n\nAn initial screening will be performed by analyzing changes in the sequence of multiple genes that have been associated with the occurrence of NENs. In cases with negative screening, a specific method to assess changes in the number of copies of the same genes will also be employed. Finally, sequences of all DNA regions encoding information required to make proteins will be obtained in selected cases. Analyses will be carried out in blood and, if available, also in tumor tissue samples from study participants. Screening of additional family members will be offered.\n\nThis project will accurately describe the repertoire of specific defects causing NENs in the study population, and will likely uncover and characterize novel genetic associations. The results will contribute for a better understanding of the alterations within and outside known driver genes that shape syndromic presentations, tumor behaviors, and inheritance patterns in individuals with NENs. These data will contribute to improve the information on the molecular bases of NENs, including alterations that can be used as therapeutic targets.",[60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,25,82,83,84],"Neuroendocrine Neoplasm","Neuroendocrine Neoplasm of Gastrointestinal Tract","Neuroendocrine Neoplasm of Lung","Thymic Neuroendocrine Neoplasm","Neuroendocrine Tumor of Pancreas","Gastrointestinal Stromal Tumors","Medullary Thyroid Cancer","Paraganglioma","Pheochromocytoma","Primary Hyperparathyroidism","Pituitary Tumor","Multiple Endocrine Neoplasia Type 1","Multiple Endocrine Neoplasia Type 2","Multiple Endocrine Neoplasia Type 4","Carney Complex","Carney Stratakis Dyad","Carney Triad","Cowden Syndrome","DICER1 Syndrome","Li-Fraumeni Syndrome","Lynch Syndrome","Von Hippel-Lindau Disease","X-Linked Acrogigantism","Neurofibromatosis 1","Tuberous Sclerosis","2024-07-22",{"date":87,"type":39},"2024-07-26",{"date":89,"type":39},"2022-08-03",{"date":91,"type":19},"2037-03-01",{"name":93,"class":46},"Universidad Nacional Autonoma de Mexico"]