[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"pten-hamartoma-tumor-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:pten-hamartoma-tumor-syndrome":62},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,92,131,158],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":69,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":80,"lastUpdatePostDateStruct":81,"startDateStruct":84,"completionDateStruct":86,"leadSponsor":88,"locationsCount":91},"100289631","familial-investigations-of-childhood-cancer-predisposition-100289631",false,"NCT03050268","Familial Investigations of Childhood Cancer Predisposition","SJFAMILY","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 below, you may enroll regardless of the results of your clinical genetic testing.\n\nDEFINITION OF FAMILIAR CANCER FOR THIS PROTOCOL:\n\nIn this protocol, the definition of \"Familial Cancer\" is met if any of the following is present:\n\n* An individual with a history of cancer diagnosed under 26 years of age who has at least one first, second or third degree relative with a history of cancer diagnosed under 51 years of age; OR\n* An individual who has been diagnosed with more than one cancer, at least one of which was diagnosed under 26 years of age; OR\n* An individual with a clinical or molecular diagnosis of a known cancer predisposition syndrome; OR\n* An individual with a congenital cancer diagnosed before 6 months of age; OR\n* An individual with a rare pediatric cancer or tumor diagnosed before 26 years of age\n\nº Excluding human papilloma virus-associated cervical cancer and non-melanoma skin cancer occurring in adults.\n\nINCLUSION CRITERIA:\n\n* An individual who meets this protocol's definition of \"Familial Cancer,\" as above.\n* Biologic relatives of an individual meeting this protocol's definition of \"Familial Cancer,\" who are either affected or unaffected by cancer.\n\nEXCLUSION CRITERIA:\n\n* An inability or unwillingness of the research participant or his\u002Fher legally authorized representative (LAR) to provide written informed consent.\n* The participant has received allogeneic bone marrow transplantation and has NO pre-transplant germline (cancer-unaffected) DNA available AND is unwilling to provide a skin sample.","ALL",{"count":18,"type":19},1500,"ESTIMATED","OBSERVATIONAL","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.\n\nWhile 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.\n\nThe purpose of this protocol is to identify novel cancer predisposing genes and\u002For 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.\n\nPRIMARY OBJECTIVE:\n\n* 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.\n\nSECONDARY OBJECTIVE:\n\n* Identify novel cancer predisposing genes and\u002For genetic variants in families with clustering of cancer for which the underlying genetic basis is unknown.",[23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68],"Acute Leukemia","Adenomatous Polyposis","Adrenocortical Carcinoma","AML","BAP1 Tumor Predisposition Syndrome","Carney Complex","Choroid Plexus Carcinoma","Constitutional Mismatch Repair Deficiency Syndrome","Diamond-Blackfan Anemia","DICER1 Syndrome","Dyskeratosis Congenita","Emberger Syndrome","Familial Acute Myeloid Leukemia","Familial Adenomatous Polyposis","Fanconi Anemia","Familial Cancer","Familial Wilms Tumor","Familial Neuroblastoma","GIST","Hereditary Breast and Ovarian Cancer","Hereditary Paraganglioma-Pheochromocytoma Syndrome","Hodgkin Lymphoma","Juvenile Polyposis","Li-Fraumeni Syndrome","Lynch Syndrome","MDS","Melanoma Syndrome","Multiple Endocrine Neoplasia Type 1","Multiple Endocrine Neoplasia Type 2","Neuroblastoma","Neurofibromatosis Type 1","Neurofibromatosis Type II","Nevoid Basal Cell Carcinoma Syndrome","Non Hodgkin Lymphoma","Noonan Syndrome and Other Rasopathy","Overgrowth Syndromes","Pancreatic Cancer","Peutz-Jeghers Syndrome","Pheochromocytoma\u002FParaganglioma","PTEN Hamartoma Tumor Syndrome","Retinoblastoma","Rhabdoid Tumor Predisposition Syndrome","Rhabdomyosarcoma","Rothmund-Thomson Syndrome","Tuberous Sclerosis","Von Hippel-Lindau Disease",[70,71,72,73,74,75,76,77,78],"Familial cancer","Genetic predisposition","Heritable disease","Cancer risk","Genome analysis","Genetic modifiers","Next generation sequencing (NGS)","Genetic counseling","DNA","RECRUITING","2026-06-15",{"date":82,"type":83},"2026-06-17","ACTUAL",{"date":85,"type":83},"2017-04-06",{"date":87,"type":19},"2037-03-31",{"name":89,"class":90},"St. Jude Children's Research Hospital","OTHER",1,{"id":93,"slug":94,"hasResults":11,"nctId":95,"briefTitle":96,"officialTitle":97,"acronym":4,"eligibilityCriteria":98,"healthyVolunteers":11,"sex":16,"minAge":99,"maxAge":100,"enrollmentInfo":101,"targetDuration":4,"studyType":103,"phases":104,"briefSummary":107,"conditions":108,"keywords":117,"overallStatus":120,"whyStopped":4,"lastUpdateSubmitDate":121,"lastUpdatePostDateStruct":122,"startDateStruct":124,"completionDateStruct":126,"leadSponsor":128,"locationsCount":130},"100609745","phase-2-double-blind-trial-of-everolimus-for-improving-social-abilities-in-pten-germline-mutations-100609745","NCT07218575","Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations","A Randomized, Placebo Controlled Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations","Inclusion Criteria:\n\n1. Diagnosis of PTEN Harmartoma Tumor Syndrom (PHTS), confirmed by genetic testing (the testing may be done as part of study screening)\n2. Experiences at least moderate levels of social difficulties, based on SRS T score \\> 60 (measured during screening Have at least a moderate impairment in social abilities, based on SRS score during study screening\n3. Fluent in English\n4. Females of child-bearing potential must have no plans to become pregnant and be using contraception during the study (if sexually active).\n5. Availability of parent, care-giver, partner or other suitable individual who can provide observation reports and provide transportation to attend clinic visits\n6. Adequate liver, kidney and bone-marrow function (checked during screening)\n7. Medically stable\n8. No plans to change school, behavioral therapies, home services or speech therapy during the study period\n9. Ability to swallow medicine in pill form\n\nExclusion Criteria:\n\n1. Ongoing or planned treatment with any medication with known or possible ant-mTOR activity (e.g. sirolimus), or strong inducers or inhibitors of CYP3A, CYP2D6, P450 or PgP (e.g. cyclosporine, ketoconazole, erythromycin, rifampin, phenytoin, phenobarbital) or ACE inhibitors\n2. Chronic treatment with systemic corticosteroids or other immunosuppressive treatments (topical or inhaled corticosteroids are allowed).\n3. Major surgery or any anti-cancer therapies (including radiotherapy) within 4 weeks of enrollment\n4. Neurosurgery within 6 months of enrollment\n5. Uncontrolled diabetes defined as HbA1c \\>8% despite treatment\n6. Uncontrolled hyperlipidemia (defined as fasting serum cholesterol \\> 300 mg\u002FdL OR \\>7.75 mmol\u002FL AND fasting triglycerides \\> 2.5 x ULN, assessed during screening)\n7. History of Hepatitis B, Hepatitis C or HIV\n8. Participation in a clinical trial in the 60 days prior to study entry\n9. Known intolerance or hypersensitivity to everolimus or other rapamycin analogs (e.g. sirolimus, temsirolimus)\n10. Patients who have a history of another primary malignancy, with the exceptions of non-melanoma skin cancer, and carcinoma in situ of the cervix, uteri, or breast from with the patient has been disease free for \\> 3 years","5 Years","45 Years",{"count":102,"type":19},60,"INTERVENTIONAL",[105,106],"PHASE2","PHASE3","The goal of this study is to examine the safety and treatment effects of everolimus in adults and children with PTEN Hamartoma Tumor Syndrome (PHTS) who experience social difficulties. The study will measure if everolimus can safely improve social abilities and functioning in this study population.\n\nPTEN Hamartoma Tumor Syndrome (PHTS) is a genetic condition that results from alteration (germline variant) to the PTEN gene. It is associated with a wide range of symptoms and characteristics, which vary from individual to individual. These include symptoms such as harmatomas (non-cancerous lesions), an increased risk of certain types of cancer, having a larger than average head, and abnormalities in blood vessels. Some people also have neurobehavioral problems including social difficulties. It is estimated approximately 25% (1 in 4) of people with PHTS meet the criteria for an autism diagnosis.\n\nThe study lasts for one year. In the first 6 months half of participants will receive everolimus as a once daily oral tablet, and half will receive placebo tablets. For the second 6 months all participants will receive everolimus. Visits to the study clinic are required at the start, month 3, month 6, month 9 and month 12, with phone calls or virtual visits in between. Assessments include questionnaires, blood tests and urine tests, physical and neurological exams, and vital signs.\n\nEverolimus is an existing FDA approved medication used to treat other conditions, including a genetic condition called tuberous sclerosis complex which has some similarities to PHTS, and several types of cancer.",[109,110,111,112,113,114,115,62,116],"Cowden's Disease","Cowden's Syndrome","Lhermitte-Duclos Disease","Cerebellum Dysplastic Gangliocytoma","Bannayan Zonana Syndrome","Myhre Riley Smith Syndrome","Riley Smith Syndrome","Bannayan Riley Ruvalcaba Syndrome",[118,119],"PTEN mutation","Autism","NOT_YET_RECRUITING","2026-06-02",{"date":123,"type":83},"2026-06-04",{"date":125,"type":19},"2026-09-01",{"date":127,"type":19},"2030-09",{"name":129,"class":90},"Boston Children's Hospital",3,{"id":132,"slug":133,"hasResults":11,"nctId":134,"briefTitle":135,"officialTitle":136,"acronym":4,"eligibilityCriteria":137,"healthyVolunteers":11,"sex":16,"minAge":138,"maxAge":4,"enrollmentInfo":139,"targetDuration":141,"studyType":20,"phases":4,"briefSummary":142,"conditions":143,"keywords":145,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":149,"lastUpdatePostDateStruct":150,"startDateStruct":152,"completionDateStruct":154,"leadSponsor":156,"locationsCount":91},"100551618","pten-hamartoma-tumor-syndrome-pediatric-patient-registry-100551618","NCT06462430","PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry","Genotype-phenotype Correlations of Pediatric Patients With PTEN Hamartoma Tumor Syndrome (PHTS) and Creation of Patient Registry","Inclusion Criteria:\n\n* Patients who have clinical findings of PHTS and have mutation in PTEN gene ( VUS included if show clinical findings) and agree to participate in the study\n\nExclusion Criteria:\n\n* Patients who do not have clinical findings of PHTS and do not have mutation in PTEN gene and do not agree to participate in the study","1 Year",{"count":140,"type":19},100,"3 Years","PtenTurkiye.org' is a national ( Turkish), web-based registry for PTEN Hamartoma Tumour ( PHTS) syndrome established in 2022. It is designed to increase awareness, gather scientific knowledge by collaboration and increase data accessibility, collect high-quality data on the epidemiology, genetic background and natural history of PHTS especially for pediatric patients so that more accurate follow up guidelines can be recommended.",[62,144],"Macrocephaly Autism Syndrome",[146,147,119,148],"Phosphotase and tension holomog","Macrocephaly","PTEN","2025-11-26",{"date":151,"type":83},"2025-12-04",{"date":153,"type":83},"2022-11-01",{"date":155,"type":19},"2026-12-01",{"name":157,"class":90},"Yale University",{"id":159,"slug":160,"hasResults":11,"nctId":161,"briefTitle":162,"officialTitle":162,"acronym":4,"eligibilityCriteria":163,"healthyVolunteers":164,"sex":16,"minAge":165,"maxAge":4,"enrollmentInfo":166,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":168,"conditions":169,"keywords":171,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":176,"lastUpdatePostDateStruct":177,"startDateStruct":179,"completionDateStruct":181,"leadSponsor":183,"locationsCount":184},"100244520","natural-history-study-of-individuals-with-autism-and-germline-heterozygous-pten-mutations-100244520","NCT02461446","Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations","Inclusion Criteria\n\n* Individuals above the age of 18 months old at the time of consent who have documentation of a clinical diagnosis of autism spectrum disorder and\u002For a verified PTEN mutation from a medical or mental health professional for inclusion in the PTEN ASD, PTEN no-ASD or ASD macrocephaly groups.\n* Macrocephaly (head circumference greater than or equal to 98th percentile) for inclusion in the ASD macrocephaly group.\n* For youths, consent from parents or legal guardian. For adults, consent from self or legal guardian.\n* Youths who are able (some young or severely impaired participants may not be able to provide assent) will be asked to provide assent as per IRB guidelines.\n* Families with multiple children who meet the above inclusion criteria will be permitted to have as many children participate as they wish. A separate consent form will be filled out for each child enrolled in the study.\n* Primary communicative language must be English\n\nExclusion Criteria\n\n* Unwilling or unable to comply with study procedures and assessments\n* Clinically significant medical disease that would prohibit participation in the study procedures.\n* For subjects ELIGIBLE FOR OPTIONAL imaging biomarker assessment: contraindications to 3T MRI scanning, such as metal implants\u002Fnon-compatible medical devices or medical conditions, including vagus nerve stimulator.\n* For subjects ELIGIBLE FOR EEG\u002FERP biomarker assessment: contraindications to EEG\u002FERP, such as uncooperative or destructive behaviors preventing lead placement or capture by ERP\u002FVEP equipment. Under age 2 or over 11 at the time of enrollment.",true,"18 Months",{"count":167,"type":19},170,"The purpose of this study is to determine cross-sectional and longitudinal medical, behavioral, and cognitive differences between PTEN ASD and other groups, as well as to identify cognitive, neural systems, and molecular biomarkers specific to PTEN ASD. In addition, this study will be creating and maintaining a biorepository and linked phenotypic database for PTEN ASD.",[148,170,119,147,62],"ASD",[172,173,174,170,119,147,62,148,175],"germline heterozygous PTEN mutations","MRI","10q23.3","EEG","2024-10-24",{"date":178,"type":83},"2024-10-26",{"date":180,"type":4},"2015-05",{"date":182,"type":19},"2026-12",{"name":129,"class":90},5]