[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"tuberous-sclerosis\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:tuberous-sclerosis":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,11,0,[8,44,70,92,167,197,227,268,297,335,440],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":26,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":4,"leadSponsor":40,"locationsCount":43},"100054885","study-of-skin-tumors-in-tuberous-sclerosis-100054885",false,"NCT00001975","Study of Skin Tumors in Tuberous Sclerosis","Cutaneous Tumorigenesis in Patients With Tuberous Sclerosis","* INCLUSION CRITERIA:\n\nPatients will be those already diagnosed with TSC (definite, probable, or possible) based on clinical criteria and\u002For genetic testing, and ranging in age from 18 to 90 years old.\n\nThe clinical features of TSC considered of major significance are: facial angiofibromas or forehead plaque, nontraumatic periungual fibromas, three or more hypomelanotic macules, shagreen patch, multiple retinal nodular hamartomas, cortical tuber, subependymal nodule, subependymal giant cell astrocytoma, cardiac rhabdomyoma, lymphangioleiomyomatosis, and renal angiomyolipoma.\n\nThe minor features of TSC are: multiple randomly distributed pits in dental enamel, hamartomatous rectal polyps, bone cysts, cerebral white matter radial migration lines, gingival fibromas, nonrenal hamartoma, retinal achromic patch, confetti skin lesions, and multiple renal cysts (5). Definite TSC is diagnosed by the presence of two major features or one major feature plus two minor features. Probable TSC is diagnosed by the presence of one major feature and one minor feature. Possible TSC is diagnosed by the presence of either one major feature or two or more minor features. Patients will not be preselected for skin lesions, but about 80% of patients with TSC are expected to have skin lesions.\n\nEXCLUSION CRITERIA:\n\nInability to give informed consent.\n\nTendency to keloid formation.\n\nAllergy to anesthetics.\n\nBleeding abnormality.","ALL","18 Years","90 Years",{"count":20,"type":21},400,"ESTIMATED","OBSERVATIONAL","Tuberous sclerosis is a rare, hereditary disease in which patients develop multiple tumors. Although not cancerous, the tumors can affect various organs, including the heart, lungs, kidneys, skin, and central nervous system, with serious medical consequences. The severity of disease varies greatly among patients, from barely detectable to fatal. This study will investigate what causes skin tumors to develop in patients with this disease.\n\nPatients with tuberous sclerosis 18 years and older may enroll in this study. Participants will undergo a medical history and thorough skin examination by a dermatologist. Those with skin tumors will be asked to undergo biopsy (tissue removal) of up to eight lesions, under a local anesthetic, for research purposes. The biopsies will all be done the same day. The tissue samples will be used for: examination of genetic changes, measurement of certain proteins and other substances, and growing in culture to study the genetics of tuberous sclerosis.",[25],"Tuberous Sclerosis",[27,28,29,30,31,32,25],"Skin Biopsy","Familial Tumor Syndrome","Cell Growth","Loss of Heterozygosity","Cytokines","Natural History","RECRUITING","2026-06-27",{"date":36,"type":37},"2026-06-30","ACTUAL",{"date":39,"type":37},"2000-01-26",{"name":41,"class":42},"National Heart, Lung, and Blood Institute (NHLBI)","NIH",1,{"id":45,"slug":46,"hasResults":11,"nctId":47,"briefTitle":48,"officialTitle":49,"acronym":4,"eligibilityCriteria":50,"healthyVolunteers":11,"sex":16,"minAge":51,"maxAge":52,"enrollmentInfo":53,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":55,"conditions":56,"keywords":60,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":64,"lastUpdatePostDateStruct":65,"startDateStruct":67,"completionDateStruct":4,"leadSponsor":69,"locationsCount":43},"100054496","study-of-the-disease-process-of-lymphangioleiomyomatosis-100054496","NCT00001465","Study of the Disease Process of Lymphangioleiomyomatosis","Characterization of the Pathogenesis of Lymphangioleiomyomatosis (LAM)","* INCLUSION CRITERIA:\n\nGeneral admission criteria for patients include one or both of the following:\n\nFindings on lung biopsy diagnostic of LAM;\n\nFindings on chest x-ray and\u002For chest computed axial tomography consistent with LAM.\n\nPatients with TSC and pulmonary LAM will be included in the study.\n\nNormal non-smokers in the control group are defined as individuals who have not smoked for greater than or equal to 1 year and have no systemic or pulmonary disease.\n\nNormal smokers defined as individuals with no systemic or pulmonary disease, who have smoked for greater than or equal to 1 year and have normal chest x-ray and normal pulmonary function tests may be included if needed as controls for a similar population of patients with LAM.\n\nPregnant and or nursing women can be included in accordance with Federal Regulations at Subpart B of 45 CFR 46 Subjects who are pregnant and or nursing will be excluded from procedures during their pregnancy that are greater than minimal risk, until they are no longer pregnant and\u002For nursing. Procedures that will not be completed while the subject is pregnant and\u002For nursing including: PFTs, Six Minute Walk Test, thoracentesis, bronchoscopy, and measurements with imaging modalities requiring contrast or with radiation exposure such as Chest x-ray, CT scan, MRI, bone densitometry (DEXA). Allowing subjects to be included in the study may glean important information about individuals with uncommon pulmonary disease during and post pregnancy.\n\nEXCLUSION CRITERIA:\n\nExclusion criteria for patients include:\n\nAge less than 16.\n\nAdvanced stage of a pulmonary or a systemic illness in which the risk of the study is judged to be significant even in the absence of a clear contraindication to the procedures.\n\nExclusion criteria for patients for the formal exercise study and the stress echocardiogram include patients on continuous oxygen. Patients may perform an exercise test that will assess the patient's exercise capacity with activities of daily living.","16 Years","100 Years",{"count":54,"type":21},2000,"Pulmonary lymphangioleiomyomatosis (LAM) is a destructive lung disease typically affecting women of childbearing age. Currently, there is no effective therapy for the disease and the prognosis is poor.\n\nThis study is designed to determine the disease processes involved at the level of cells and molecules, in order to develop more effective therapy.\n\nResearchers intend to identify the proteins and genes that contribute to the process of lung destruction in affected individuals.",[57,58,25,59],"Lung Disease","Pneumothorax","Lymphangioleiomyomatosis",[61,62,63,58,25,32],"Smooth Muscle Proliferation","Bronchoscopy","Female","2026-06-23",{"date":66,"type":37},"2026-06-24",{"date":68,"type":37},"1995-12-18",{"name":41,"class":42},{"id":71,"slug":72,"hasResults":11,"nctId":73,"briefTitle":74,"officialTitle":75,"acronym":4,"eligibilityCriteria":76,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":77,"targetDuration":79,"studyType":22,"phases":4,"briefSummary":80,"conditions":81,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":82,"lastUpdatePostDateStruct":83,"startDateStruct":84,"completionDateStruct":86,"leadSponsor":88,"locationsCount":91},"100491205","tsc-biosample-repository-and-natural-history-database-100491205","NCT05676099","TSC Biosample Repository and Natural History Database","TSC Alliance Tuberous Sclerosis Complex (TSC) Biosample Repository and Natural History Database","Inclusion Criteria:\n\n* Diagnosis of tuberous sclerosis complex or lymphangioleiomyomatosis (sporadic LAM).\n\nExclusion Criteria:\n\n\\-",{"count":78,"type":21},5000,"50 Years","The TSC Biosample Repository collects and stores samples of blood, DNA, and tissues that scientists can request to use in their research. The samples we collect are all linked to clinical data in the TSC Natural History Database. The TSC Natural History Database captures clinical data to document the impact of the disease on a person's health over his or her lifetime. This data may be collected retrospectively or prospectively.",[25,59],"2026-06-19",{"date":66,"type":37},{"date":85,"type":37},"2016-01",{"date":87,"type":21},"2050-12",{"name":89,"class":90},"National Tuberous Sclerosis Association","OTHER",26,{"id":93,"slug":94,"hasResults":11,"nctId":95,"briefTitle":96,"officialTitle":96,"acronym":97,"eligibilityCriteria":98,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":99,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":101,"conditions":102,"keywords":148,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":158,"lastUpdatePostDateStruct":159,"startDateStruct":161,"completionDateStruct":163,"leadSponsor":165,"locationsCount":43},"100289631","familial-investigations-of-childhood-cancer-predisposition-100289631","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.",{"count":100,"type":21},1500,"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.",[103,104,105,106,107,108,109,110,111,112,113,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129,130,131,132,133,134,135,136,137,138,139,140,141,142,143,144,145,146,25,147],"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","Von Hippel-Lindau Disease",[149,150,151,152,153,154,155,156,157],"Familial cancer","Genetic predisposition","Heritable disease","Cancer risk","Genome analysis","Genetic modifiers","Next generation sequencing (NGS)","Genetic counseling","DNA","2026-06-15",{"date":160,"type":37},"2026-06-17",{"date":162,"type":37},"2017-04-06",{"date":164,"type":21},"2037-03-31",{"name":166,"class":90},"St. Jude Children's Research Hospital",{"id":168,"slug":169,"hasResults":11,"nctId":170,"briefTitle":171,"officialTitle":172,"acronym":4,"eligibilityCriteria":173,"healthyVolunteers":174,"sex":16,"minAge":175,"maxAge":18,"enrollmentInfo":176,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":178,"conditions":179,"keywords":184,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":190,"lastUpdatePostDateStruct":191,"startDateStruct":193,"completionDateStruct":4,"leadSponsor":195,"locationsCount":196},"100054548","role-of-genetic-factors-in-the-development-of-lung-disease-100054548","NCT00001532","Role of Genetic Factors in the Development of Lung Disease","Role of Genetic Factors in the Pathogenesis of Lung Disease","* INCLUSION CRITERIA:\n\nInclusion criteria for patients with AAT deficiency include: (1) Diagnosis of AAT with a confirmed phenotype considered in the high risk category; (2) Clinical phenotype consistent with potential genetic diseases and other genetic causes of lung diseases (3) symptoms consistent with pulmonary disease; (4) chest x-ray consistent with pulmonary disease; (5) pulmonary function tests consistent with pulmonary disease; (6) smokers, defined as individuals who are current smokers (1 pack per day for at least 2 years) and nonsmokers, defined as never-smokers or ex-smokers who have quit smoking three or more years ago;\n\nInclusion criteria for individuals with chronic obstructive pulmonary diseases include:\n\n1. symptoms consistent with pulmonary disease\n2. chest x-ray consistent with pulmonary disease\n3. pulmonary function tests consistent with pulmonary disease;\n4. smokers, defined as individuals who are current smokers (1 pack per day for at least 2 years) and nonsmokers, defined as never-smokers or ex-smokers who have not smoked for three or more years.\n\nInclusion criteria for patients with cystic fibrosis include a defined genetic mutation (i.e., any of the known variants of the CFTR gene, such as delta F508 allele) or a cystic fibrosis phenotype and clinical features consistent with this disease. Children with cystic fibrosis over eight years of age may be included.\n\nPatients with established diagnoses of sarcoidosis; mycobacterial infections; TSC (definite or possible); cystic lung diseases including genetic diseases; lymphangioleiomyomatosis or diseases associated with lymphatic disorders; history of pneumothorax; pulmonary fibrosis; asthma; histiocytosis X and diabetes mellitus will be included in this protocol. Relatives of patients may also be seen under this protocol. Children with lymphangiomatosis who are two years of age or older may be included. Participants with asthma may be enrolled at Suburban Hospital.\n\nResearch volunteers in the pulmonary control group are defined as individuals with no pulmonary disease (e.g. rheumatoid arthritis without evidence of pulmonary disease). Research volunteers in the diabetes control group are defined as individuals with no history of diabetes, coronary artery disease, or pulmonary disease.\n\nPregnant and or nursing women can be included in accordance with Federal Regulations at Subpart B of 45 CFR 46. Subjects who are pregnant and or nursing will be excluded from procedures during their pregnancy that are greater than minimal risk, until they are no longer pregnant and\u002For nursing. Procedures that will not be completed while the subject is pregnant and\u002For nursing including: PFTs, Six Minute Walk Test, thoracentesis, bronchoscopy, and measurements with imaging modalities requiring contrast or with radiation exposure such as Chest x-ray, CT scan, MRI. Allowing subjects to be included in the study may glean important information about individuals with uncommon pulmonary disease during and post pregnancy.\n\nPatients with abnormalities in ADP-ribosyltransferases, ADP-ribosyl-acceptor hydrolases, and their substrates. Children who are two years of age or older may be studied if they have a known defect in ADP-ribosylation, or if they have a family member with a defect in ADP-ribosylation and may be affected.\n\nEXCLUSION CRITERIA:\n\nExclusion criteria for all participants include:\n\n1. age less than 18 or greater than 90 except for NIH patients with diseases \u002Fdisorders as described in this protocol (except cystic fibrosis, lymphangiomatosis or defects in ADP-ribosylation) who are 16 years of age or older, patients with cystic fibrosis who are over eight years of age, patients who are two years of age or older with lymphangiomatosis or a known defect in ADP-ribosylation, or who have a family member with a defect in ADP-ribosylation, or unless patient-specific IRB approval is obtained and;\n2. inability to obtain reliable pulmonary function testing. As clarification, healthy volunteers, relatives of patients (except as noted for an ADP-ribosylation defect), and asthmatic patients from Suburban Hospital will be excluded if less than 18 or greater than 90 years of age.\n\nExclusion criteria for participating in the bronchoscopy portion of the study are:\n\n1. presence of any contraindication for fiberoptic bronchoscopy, with lavage and\u002For bronchial brushing;\n2. advanced stage of a pulmonary or a systemic illness such that the risk is judged to be significant even in the absence of a specific contraindication to the procedure\n3. allergy to topical anesthetic (e.g., lidocaine)\n4. current or recent respiratory infection (within the last 4 weeks)\n5. pregnancy or lactation\n6. age less than 18 or greater than 65.",true,"2 Years",{"count":177,"type":21},3500,"This study is designed to evaluate the genetics involved in the development of lung disease by surveying genes involved in the process of breathing and examining the genes in lung cells of patients with lung disease.\n\nThe study will focus on defining the distribution of abnormal genes responsible for processes directly involved in different diseases affecting the lungs of patients and healthy volunteers.\n\nOptional CT Sub-study\n\nThe standard CT scan will be compared to the low dose radiation CT scan for the 150 subjects enrolled in the sub-study to assess the variation between the two techniques. Specifically, the quantitative computer aided detection of lung CT abnormalities from LAM can be compared to assess whether low radiation dose CT exams is an alternative to conventional CT to monitor disease\n\nstatus.\n\nThis optional sub-study will be offered to up to 100 adult subjects with lung disease and up to 50 children age 9 and older with CF. Children will not be enrolled in the optional CT sub-study unless they have had a standard CT scan for medical purposes to use in comparison. One additional low dose radiation CT scan of the chest may be done as part of this sub-study when these subjects have their next annual CT scan.",[180,181,25,182,183],"Cystic Fibrosis","Pulmonary Fibrosis","Asthma","Pulmonary Sarcoidosis",[185,186,187,188,189,32,57,180,182],"Genetic Polymorphism","Nitric Oxide Synthesis","Alpha 1-Antitrypsin","Candidate Genes","Lung Pathology","2026-06-13",{"date":192,"type":37},"2026-06-16",{"date":194,"type":37},"1996-09-13",{"name":41,"class":42},2,{"id":198,"slug":4,"hasResults":11,"nctId":199,"briefTitle":200,"officialTitle":201,"acronym":4,"eligibilityCriteria":202,"healthyVolunteers":11,"sex":16,"minAge":175,"maxAge":203,"enrollmentInfo":204,"targetDuration":4,"studyType":206,"phases":207,"briefSummary":209,"conditions":210,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":218,"lastUpdatePostDateStruct":219,"startDateStruct":221,"completionDateStruct":223,"leadSponsor":225,"locationsCount":43},"100526778","NCT06139172","Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)","Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities","Inclusion Criteria:\n\n* Age(s) 2-12 years old at time of enrollment\n* Existing genetic syndrome based on clinical or genetic diagnosis and confirmed by medical records\n* Documented diagnosis of global developmental delay (GDD) or intellectual disability (ID)\n* estimated ID in all ranges\n* Disruptive behavior challenges determined to be clinically appropriate for remote, parent-implemented coaching based on clinician determination of acuity of problem behaviors\n* Caregiver who is able to consent in English.\n* Parent\u002Fcaregiver available for weekly intervention sessions\n* Stable psychosocial and psychiatric treatments 3 months prior to baseline visit.\n\nExclusion Criteria:\n\n* High levels of aggression that mitigate remote or outpatient treatment as defined by clinician judgement and\u002For ABC Irritability scores above 20 (i.e., higher level of care needed than provided by study procedures)\n* Medical or psychiatric instability that may limit study participation\n* Meaningful change in medication or psychosocial interventions 3 months prior to baseline visit\n* Limitations in technology access that may hinder participation in remote trial (e.g., declining support provided by study participation)","12 Years",{"count":205,"type":21},92,"INTERVENTIONAL",[208],"NA","The purpose of this study is to evaluate the effectiveness of an adapted, telehealth functional behavioral therapy (FBTsIDD) specifically focused on promoting appropriate communication and behavioral strategies in individuals with syndromic intellectual and developmental disorders.\n\nParticipants will be asked to complete virtual study assessments at intake and then on a monthly basis for the duration of 3-6 months. In addition, participants will attend weekly or biweekly virtual intervention visits with a study therapist.",[211,25,212,213,214,215,216,217],"Telomeric 22Q13 Monosomy Syndrome","Hamartoma Syndrome, Multiple","Fragile X Syndrome","Angelman Syndrome","Rett Syndrome","Chromosome 15Q, Partial Deletion","Creatine Deficiency, X-linked","2026-01-21",{"date":220,"type":37},"2026-01-23",{"date":222,"type":37},"2023-09-15",{"date":224,"type":21},"2026-12",{"name":226,"class":90},"Rush University Medical Center",{"id":228,"slug":229,"hasResults":11,"nctId":230,"briefTitle":231,"officialTitle":232,"acronym":233,"eligibilityCriteria":234,"healthyVolunteers":11,"sex":16,"minAge":235,"maxAge":236,"enrollmentInfo":237,"targetDuration":4,"studyType":206,"phases":239,"briefSummary":241,"conditions":242,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":258,"lastUpdatePostDateStruct":259,"startDateStruct":261,"completionDateStruct":263,"leadSponsor":265,"locationsCount":267},"100522340","phase-2-sertraline-vs-placebo-in-the-treatment-of-anxiety-in-children-and-adolescents-with-neurodevelopmental-disorders-100522340","NCT06081348","Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders","A Randomized Placebo-Controlled Trial of Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders","CALM","Inclusion Criteria:\n\n1. Outpatients 8-17 years of age, inclusive\n2. Females of child bearing potential who are sexually active and agree to use medically acceptable birth control throughout the study and at least one week post last dose of study drug.\n3. Meet Diagnostic and Statistical Manual of Mental Disorders - DSM-5 criteria for ASD, ADHD, Tic Disorders, or genetic diagnosis of Fragile X, tuberous sclerosis or 22q11 deletions.\n4. Meet DSM-5 criteria for one of the following anxiety disorders: Separation Anxiety Disorder, Social Anxiety Disorder, Agoraphobia, Generalized Anxiety Disorder, or Unspecified Anxiety Disorder, based on expert clinical interview, supported by the Kiddie Schedule for Affective Disorders and Schizophrenia (KSADS; Kaufman et al., 2016). Other specified anxiety disorder is included to account for youth with impairing anxiety symptoms who may not meet criteria for one of the other anxiety disorders.\n5. Have a Clinician's Global Impression-Severity for anxiety (CGI-S; Guy, 1976)) score ≥ 4 (moderately ill) (inter-rater reliability will be done prior to initiation of enrollment, using videotapes of interviews and vignettes)\n6. Have at least phrase speech, to allow for some self-report. So that results can be generalized to children and youth with NDD and various levels of ability, no IQ cut-off will be employed. Full-scale IQ (as measured by the Stanford-Binet) is measured to explore its effect on efficacy and safety\\*\n7. If already receiving interventions, must meet the following criteria:\n\n   1. If receiving concomitant medications affecting behaviour, must be on a stable dose during the month prior to screening and will not electively modify ongoing medications for study duration\n   2. If already receiving stable non-pharmacological behavioural interventions, have stable participation during 3 months prior to screening, and will not electively modify ongoing interventions\n8. Ability to complete assessments in English\u002FFrench\n\nExclusion Criteria:\n\n1. Receiving other SSRIs within four weeks of randomization (6 weeks for fluoxetine)\n2. Previous treatment with sertraline, at an adequate dose (at least 100mg for 6 weeks, or lower dose and duration if not well-tolerated), associated with no response or significant-to-the-participant side effects.\n3. Received more than 2 previous appropriate trials of SSRIs with no adequate response\n4. Pregnant females or sexually active females on inadequate contraception\n5. Serious medical condition that, based on Investigator judgment, might interfere with the conduct of the study, confound interpretation of the study results, or endanger participant. In addition diabetic patients on medications for glycemic control will be excluded as sertraline may interfere with glycemic control.\n6. Hypersensitivity to sertraline or any components of its formulation\n7. On Monoamine Oxidase Inhibitors or pimozide (as per product monograph)\n8. On concomitant medications known to significantly increase QT interval where this would result in unacceptable risk per Investigator judgment.\n9. Known congenital QT prolongation\n10. HIV, hepatitis B or C, hemophilia, abnormal blood pressure, substance abuse, immunity disorder, major depressive episode or psychosis (as required by Health Canada)\n11. Unable to tolerate venipuncture\n12. Unable to swallow capsules\n13. Enrolled in another intervention study","8 Years","17 Years",{"count":238,"type":21},130,[240],"PHASE2","There are currently no approved medications for the treatment of anxiety in children and youth with neurodevelopmental disorders (NDDs), both common and rare. Sertraline, a selective serotonin reuptake inhibitor, has extensive evidence to support its use in children's and youth with anxiety but not within NDDs. More research is needed to confirm whether or not sertraline could help improve anxiety in children and youth with common and rare neurodevelopmental conditions. This is a pilot study, in which we plan to estimate the effect size of reduction in anxiety of sertraline vs. placebo. across rare and common neurodevelopmental disorders, and determine the best measure(s) to be used as a primary transdiagnostic outcome measure of anxiety, as well as diagnosis specific measures in future, larger-scale clinical trials of anxiety in NDDs.",[243,244,245,213,25,246,247,248,249,250,251,252,253,254,255,256,257],"Neurodevelopmental Disorders","Autism","Autism Spectrum Disorder","22Q11 Deletion Syndrome","22Q11 Deletion","ADHD","Tic Disorders","Tourette Syndrome","Tourette Syndrome in Children","Tourette Syndrome in Adolescence","ADHD - Combined Type","ADHD Predominantly Inattentive Type","ADHD, Predominantly Hyperactive - Impulsive","Anxiety","Anxiety Disorders","2025-07-14",{"date":260,"type":37},"2025-07-16",{"date":262,"type":37},"2024-09-16",{"date":264,"type":21},"2026-09",{"name":266,"class":90},"Holland Bloorview Kids Rehabilitation Hospital",8,{"id":269,"slug":270,"hasResults":11,"nctId":271,"briefTitle":272,"officialTitle":273,"acronym":4,"eligibilityCriteria":274,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":275,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":277,"conditions":278,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":288,"lastUpdatePostDateStruct":289,"startDateStruct":291,"completionDateStruct":293,"leadSponsor":295,"locationsCount":43},"100541475","qualitative-study-in-patients-with-genodermatoses-and-healthcare-professionals-on-reproductive-counselling-100541475","NCT06330350","Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling","Investigating Perspectives of Patients With Genodermatosis and Healthcare Professionals on Reproductive Counselling","Inclusion Criteria:\n\n* Adult patients with genodermatosis (i.e, keratinisation disorders, skin fragility diseases, ectodermal dysplasias, dermato-oncological syndromes, other genodermatoses) and a desire to have children, with if applicable his or her partner with a desire to have children\n* Patients with clinically and molecularly confirmed variant of a genodermatosis\n* Health care professionals involved with the care of genodermatology patients (e.g. clinical geneticists, dermatologists)\n\nExclusion Criteria:\n\n* Not being able to communicate verbally in Dutch or English",{"count":276,"type":21},25,"The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of reproductive options. Additionally, the investigators aim to investigate the level of knowledge and perspectives of healthcare professionals (such as clinical geneticists, dermatologists and other clinicians involved), and want to explore to what extent patients and their partners are well informed about these reproductive options. To achieve this, the investigators will conduct individual semi-structured qualitative interviews with participants affected by genodermatoses (and their partners) and with healthcare professionals.",[279,280,281,282,283,284,285,25,286,287],"Quality of Life","Ichthyosis","Palmoplantar Keratoses","Epidermolysis Bullosa","Ectodermal Dysplasia","Basal Cell Nevus Syndrome","Birt-Hogg-Dube Syndrome","Cutis Laxa","Albinism","2025-05-16",{"date":290,"type":37},"2025-05-18",{"date":292,"type":37},"2024-01-01",{"date":294,"type":21},"2025-12-31",{"name":296,"class":90},"Maastricht University Medical Center",{"id":298,"slug":299,"hasResults":11,"nctId":300,"briefTitle":301,"officialTitle":301,"acronym":4,"eligibilityCriteria":302,"healthyVolunteers":174,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":303,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":305,"conditions":306,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":325,"lastUpdatePostDateStruct":326,"startDateStruct":328,"completionDateStruct":330,"leadSponsor":332,"locationsCount":334},"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.",{"count":304,"type":21},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.",[307,308,309,310,311,312,313,314,315,316,317,130,131,318,108,319,320,321,112,126,127,147,322,323,324,25],"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 4","Carney Stratakis Dyad","Carney Triad","Cowden Syndrome","Familial Isolated Pituitary Adenoma","X-Linked Acrogigantism","Neurofibromatosis 1","2024-07-22",{"date":327,"type":37},"2024-07-26",{"date":329,"type":37},"2022-08-03",{"date":331,"type":21},"2037-03-01",{"name":333,"class":90},"Universidad Nacional Autonoma de Mexico",3,{"id":336,"slug":337,"hasResults":11,"nctId":338,"briefTitle":339,"officialTitle":340,"acronym":341,"eligibilityCriteria":342,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":343,"targetDuration":345,"studyType":22,"phases":4,"briefSummary":346,"conditions":347,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":431,"lastUpdatePostDateStruct":432,"startDateStruct":434,"completionDateStruct":436,"leadSponsor":438,"locationsCount":43},"100521150","national-registry-of-rare-kidney-diseases-100521150","NCT06065852","National Registry of Rare Kidney Diseases","National Registry of Rare Kidney Diseases (RaDaR)","RaDaR","* Kidney Rare Disease\n* Paeds and adults\n* Eligibility differs for each rare disease group\n* See: https:\u002F\u002Fukkidney.org\u002Frare-renal\u002Frecruitment",{"count":344,"type":21},35000,"30 Years","The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.\n\nThe purpose of this research is to:\n\n* Develop Clinical Guidelines for specific rare kidney diseases. These are written recommendations on how to diagnose and treat a medical condition.\n* Audit treatments and outcomes. An audit makes checks to see if what should be done is being done and asks if it could be done better.\n* Further the development of future treatments.\n\nParticipants will be invited to participate on clinical trials and other studies. The registry has the capacity to feedback relevant information to patients and in conjunction with Patient Knows Best (Home - Patients Know Best), allows patients to provide information themselves, including their own reported quality of life and outcome measures.",[348,349,350,351,352,353,354,355,356,357,358,359,360,361,362,363,364,365,366,367,368,369,370,371,372,373,374,375,376,377,378,379,380,381,382,383,384,385,386,387,388,389,390,391,392,393,394,395,396,397,398,399,400,401,402,403,404,405,406,407,408,409,410,411,412,413,414,415,416,417,418,419,420,421,422,423,424,425,426,427,428,25,429,430],"Adenine Phosphoribosyltransferase Deficiency","AH Amyloidosis","AHL Amyloidosis","AL Amyloidosis","Alport Syndrome","Atypical Hemolytic Uremic Syndrome","Autoimmune Distal Renal Tubular Acidosis","Autosomal Recessive Proximal Renal Tubular Acidosis","Autosomal Recessive Distal Renal Tubular Acidosis","Autosomal Dominant Polycystic Kidney Disease","Autosomal Recessive Polycystic Kidney Disease","Bartter Syndrome","BK Nephropathy","C3 Glomerulopathy With Monoclonal Gammopathy","C3 Glomerulopathy","Calciphylaxis","Crystalglobulinaemia","Crystal-storing Histiocytosis","Cystinosis","Cystinuria","Dense Deposit Disease","Dent Disease","Denys-Drash Syndrome","Dominant Hypophosphataemia With Nephrolithiasis and\u002For Osteoporosis","Drug Induced Fanconi Syndrome","Drug-Induced Hypomagnesemia","Drug-Induced Nephrogenic Diabetes Insipidus","Epilepsy, Ataxia, Sensorineural Deafness and Tubulopathy","Fabry Disease","Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis","Familial Primary Hypomagnesemia With Hypocalcuria","Familial Primary Hypomagnesaemia With Normocalciuria","Familial Renal Glucosuria","Fanconi Renotubular Syndrome 1","Fanconi Renotubular Syndrome 2","Fanconi Renotubular Syndrome 3","Fibrillary Glomerulonephritis","Fibromuscular Dysplasia","Focal Segmental Glomerulosclerosis","Generalised Pseudohypoaldosteronism Type 1","Gitelman Syndrome","Heavy-Metal-Induced Fanconi Syndrome","Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes","Hereditary Renal Hypouricemia","Hereditary Hypophosphatemic Rickets With Hypercalciuria","Hyperuricaemic Nephropathy","IgA Nephropathy","Immunotactoid Glomerulonephritis With Organised Microtubular Mononoclonal Immunoglobulin Deposits","Inherited Renal Cancer Syndromes","Intracapillary Monoclonal IgM Without Cryoglobulin","Intraglomerular\u002FCapillary Lymphoma\u002FLeukaemia","Isolated Autosomal Dominant Hypomagnesaemia Glaudemans Type","Liddle Syndrome","Light Chain Cast Nephropathy","Light Chain Proximal Tubulopathy Without Crystals","Light Chain Proximal Tubulopathy With Crystals","Lowe Syndrome","Membranous Nephropathy","Membranoproliferative Glomerulonephritis","Medullary Cystic Kidney Disease","Minimal Change Nephropathy","Mitochondrial Disease Of The Kidney","Monoclonal Immunoglobulin Deposition Disease","Nail Patella Syndrome","Nephrogenic Diabetes Insipidus","Nephrogenic Syndrome of Inappropriate Antidiuresis","Nephronophthisis","Primary Hypomagnesemia With Secondary Hypocalcemia","Primary Hyperoxaluria","Proliferative Glomerulonephritis With Monoclonal IgG Deposits","Proximal Tubulopathy Without Crystals","Pseudohypoaldosteronism Type 1, 2A-2E","Pure Red Cell Aplasia","Retroperitoneal Fibrosis","Sickle Cell Nephropathy","Shiga Toxin Associated Haemolytic Uraemic Syndrome","Steroid Resistant Nephrotic Syndrome","Steroid-Sensitive Nephrotic Syndrome","Thin Basement Membrane Nephropathy","Thrombotic Microangiopathy With Monoclonal Gammopathy","Type 1 Cryoglobulinaemic Glomerulonephritis","Unclassified Monoclonal Gammopathy Of Renal Significance","Vasculitis","2023-09-26",{"date":433,"type":37},"2023-10-04",{"date":435,"type":37},"2009-11-06",{"date":437,"type":21},"2039-12-31",{"name":439,"class":90},"UK Kidney Association",{"id":441,"slug":442,"hasResults":11,"nctId":443,"briefTitle":444,"officialTitle":445,"acronym":446,"eligibilityCriteria":447,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":448,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":450,"conditions":451,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":483,"lastUpdatePostDateStruct":484,"startDateStruct":486,"completionDateStruct":488,"leadSponsor":490,"locationsCount":43},"100398068","growing-up-with-rare-genetic-syndromes-100398068","NCT04463316","GROWing Up With Rare GENEtic Syndromes","GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age","GROW UR GENES","Inclusion Criteria:\n\n* Patients with rare syndromes or rare congenital diseases visiting the multidisciplinary outpatient clinic for patients with rare diseases at the department of endocrinology, internal medicine, Erasmus Medical Center.\n\nExclusion Criteria:\n\n* None",{"count":449,"type":21},600,"Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.\n\nIncreased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes.\n\nMedical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines.\n\nThe aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including:\n\n1. comorbidities\n2. medical and their impact on quality of life\n3. medication use\n4. the need for adaption of medication dose according to each syndrome\n\nMethods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.",[452,453,454,455,456,457,458,459,460,461,462,463,25,464,465,466,467,468,469,470,471,472,473,474,475,476,215,477,478,479,480,481,482],"Prader-Willi Syndrome","PWS-like Syndrome","Silver Russel Syndrome","Congenital Hypopituitarism","Klinefelter (XXY-)Syndrome","Congenital Adrenal Hyperplasia","XXXXY Syndrome","XXYY Syndrome","XXXX Syndrome (Tetra-X Syndrome)","Disorders of Sex Development","Turner Syndrome","46, XY DSD","Neurofibromatosis","Albright Hereditaire Osteodystrofie","Cornelia de Lange Syndrome","Saethre-Chotzen Syndrome","17p- Deletiesyndrome","VCF Syndrome","POLR3A Mutatie","Ohdo Syndrome","Jacobsen Syndrome \u002F 11 q Syndrome","Myrhe Syndrome","CHARGE Syndrome","1q25-32 Deletie","Bardet Biedl Syndrome","22q11 Deletion Syndrome","Allan-Herndon-Dudley Syndrome","Kallmann Syndrome","Rare Bone Disorders","Noonan Syndrome","Williams-Beuren Syndrome","2023-09-04",{"date":485,"type":37},"2023-09-06",{"date":487,"type":37},"2018-10-01",{"date":489,"type":21},"2030-01-01",{"name":491,"class":90},"dr. Laura C. G. de Graaff-Herder"]