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Showing 25–36 of 12 matching trials from the live ClinicalTrials.gov search.
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Conditions
Shwachman-Diamond Syndrome, Shwachman-Diamond Syndrome-Like
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
5,000 participants
Timeline
2016 – 2090
U.S. locations
4
States / cities
Aurora, Colorado • Boston, Massachusetts • Cincinnati, Ohio
Recruiting No phase listed Observational Accepts healthy volunteers

Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome

NCT04792463
Conditions
Uveal Melanoma, Cutaneous Melanoma, BAP1 Gene Mutation, Renal Cell Carcinoma, Mesothelioma, Hepatocellular Carcinoma, Cholangiocarcinoma, Meningioma Atypical
Interventions
Not listed
Lead sponsor
Mohamed Abdel-Rahman
Other
Eligibility
Not listed
Enrollment
500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2026
U.S. locations
1
States / cities
Columbus, Ohio
Conditions
Recurrent Childhood Kidney Neoplasm, Stage I Kidney Wilms Tumor, Stage II Kidney Wilms Tumor, Stage III Kidney Wilms Tumor, Stage IV Kidney Wilms Tumor
Interventions
Laboratory Biomarker Analysis
Other
Lead sponsor
Children's Oncology Group
Network
Eligibility
Not listed
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Conditions
Alcoholism, HIV Infection, Homosexuality, Kaposi's Sarcoma
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
Not listed
Enrollment
2,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1992 – 2005
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Neurofibromatosis 1, Peripheral Nerve Neoplasms, Malignant
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
1 Month and older
Enrollment
296 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Cancer Risk, Cancer Predisposition Syndrome, Hereditary Cancer Prediction, Childhood Cancer Survivors, Adult Cancer Survivors, IARC Carcinogens, Smoking History, Lung Cancer, Ductal/Lobular Carcinoma, Barrett Esophagus, Pancreatic Precursor Lesions, Colonic Dysplasia/Adenomata, Non-Alcoholic Fatty Liver Disease, Non Alcoholic Steatohepatitis, Cirrhosis, High Grade Prostatic Epithelial Neoplasia, High-grade Bladder Urothelial Dysplasia/Carcinoma in Situ, Adenomatous Hyperplasia, High-risk Oral Precancerous Diseases, Melanocytic Lesion, Adult, Hematologic Malignancy, Lung; Node, Serous Tubal Intraepithelial Carcinoma, Endometrial Intraepithelial Neoplasia, Cervical and Endocervical Carcinoma in Situ, Vulvar Intraepithelial Neoplasia, Nephrogenic Rests, Benign Bone Lesions With Risk of Malignant Degeneration, Giant Cell Tumor, Osteochondroma, Spitz Nevus
Interventions
Samples
Other
Lead sponsor
Dana-Farber Cancer Institute
Other
Eligibility
Not listed
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2032
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Prostate Cancer, Breast Cancer, Lung Cancer, Ovarian Cancer, Lymphoma
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
3 Years and older
Enrollment
1,100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
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/Paraganglioma, PTEN Hamartoma Tumor Syndrome, Retinoblastoma, Rhabdoid Tumor Predisposition Syndrome, Rhabdomyosarcoma, Rothmund-Thomson Syndrome, Tuberous Sclerosis, Von Hippel-Lindau Disease
Interventions
Not listed
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
Not listed
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2037
U.S. locations
1
States / cities
Memphis, Tennessee
Completed No phase listed Observational Accepts healthy volunteers

Biomarker Monitoring in TP53 Mutation Carriers

NCT02289326
Conditions
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
Interventions
Not listed
Lead sponsor
Scripps Health
Other
Eligibility
Not listed
Enrollment
6 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2016
U.S. locations
1
States / cities
La Jolla, California
Conditions
Stomach Neoplasms, Stomach Cancer, Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS), Hereditary Diffuse Gastric Cancer (HDGC), Familial Diffuse Gastric Cancer
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
2 Years and older
Enrollment
733 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2025
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Cerebral Cavernous Malformation
Interventions
Atorvastatin, Placebo
Drug · Other
Lead sponsor
University of Chicago
Other
Eligibility
18 Years to 80 Years
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2025
U.S. locations
1
States / cities
Chicago, Illinois
Conditions
16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder), ACTL6B, ADNP, AHDC1, ANK2, ANKRD11, ARID1B, ASH1L, BCL11A, CHAMP1, CHD2, CHD8, CSNK2A1, CTBP1, CTNNB1 Gene Mutation, CUL3, DDX3X, DNMT3A, DSCAM, DYRK1A, FOXP1, GRIN2A, GRIN2B, HIVEP2-Related Intellectual Disability, HNRNPH2, KATNAL2, KDM5B, KDM6B, KMT2C Gene Mutation, KMT2E, KMT5B, MBD5, MED13L, PACS1, PPP2R5D-Related Intellectual Disability, PTCHD1, REST, SCN2A Encephalopathy, SETBP1 Gene Mutation, SETD5, SMARCA4 Gene Mutation, SMARCC2, STXBP1 Encephalopathy With Epilepsy, SYNGAP1-Related Intellectual Disability, TBR1, ARHGEF9, HNRNPU, PPP3CA, PPP2R1A, SLC6A1, 2p16.3 Deletions, 5q35 Deletions, 5q35 Duplications, 7q11.23 Duplications, 15Q13.3 Deletion Syndrome, 16p11.2 Triplications, 16P12.2 Microdeletion, 16P13.11 Microdeletion Syndrome (Disorder), 17Q12 Microdeletion Syndrome (Disorder), 17Q12 Duplication Syndrome, 17Q21.31 Deletion Syndrome, 17q21.3 Duplications, ACTB, ADSL, AFF2, ALDH5A1, ANK3, ARX, ATRX Gene Mutation, AUTS2 Syndrome, BCKDK, BRSK2, CACNA1C, CAPRIN1, CASK, CASZ1, CHD3, CIC, CNOT3, CREBBP Gene Mutation, CSDE1, CTCF, DEAF1, DHCR7, DLG4, EBF3, EHMT1, EP300 Gene Mutation, GIGYF1, GRIN1, GRIN2D, IQSEC2-Related Syndromic Intellectual Disability, IRF2BPL, KANSL1, KCNB1, KDM3B, NEXMIF, KMT2A, MBOAT7, MEIS2, MYT1L, NAA15, NBEA, NCKAP1, NIPBL, NLGN2, NLGN3, NLGN4X, NR4A2, NRXN1, NRXN2, NSD1 Gene Mutation, PHF21A, PHF3, PHIP, POMGNT1, PSMD12, RELN, RERE, RFX3, RIMS1, RORB, SCN1A, SETD2 Gene Mutation, SHANK2, SIN3A, SLC9A6, SON, SOX5, SPAST, SRCAP, TAOK1, TANC2, TCF20, TLK2, TRIO, TRIP12, UPF3B, USP9X, VPS13B, WAC, WDFY3, ZBTB20, ZNF292, ZNF462, 2Q37 Deletion Syndrome, 9q34 Duplications, 15q15 Deletions, 15Q24 Deletion, NR3C2, SYNCRIP, 2q34 Duplication, 2q37.3 Deletion, 6q16 Deletion, 15q11.2 BP1-BP2 Deletion, 16p13.3 Deletion, 17Q11.2 Microduplication Syndrome (Disorder), 17p13.3, Xq28 Duplication, CLCN4, CSNK2B, DYNC1H1, EIF3F, GNB1, MED13, MEF2C, RALGAPB, SCN1B, YY1, Xp11.22 Duplication, PACS2, MAOA, MAOB, HNRNPC, HNRNPD, HNRNPK, HNRNPR, HNRNPUL2, 5P Deletion Syndrome, TCF7L2 Gene Mutation, HECW2
Interventions
Not listed
Lead sponsor
Simons Searchlight
Other
Eligibility
Not listed
Enrollment
100,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2050
U.S. locations
2
States / cities
Boston, Massachusetts • Lewisburg, Pennsylvania