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ClinicalTrials.gov public records Last synced Sep 13, 2026, 5:33 PM EDT

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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Intervention: Genome Sequencing Clear all
Withdrawn Not applicable Interventional Accepts healthy volunteers

Development of an Optimal Approach to Return of Results for Next-generation Sequencing for Prenatal Diagnosis

NCT02255825
View directory record Official record
Conditions
Major Fetal Anomaly
Interventions
Whole Genome Sequencing, Amniocentesis, Psychosocial assessment
Genetic · Procedure · Other
Lead sponsor
University of California, San Diego
Other
Eligibility
18 Years and older
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2019
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Jun 5, 2019 · Synced Sep 13, 2026, 5:33 PM EDT
Terminated Phase 1Phase 2 Interventional Results available

A Phase I/II Study of Azacitidine, Docetaxel, and Prednisone for Metastatic Prostate Cancer Patients

NCT00503984
View directory record Official record
Conditions
Prostate Cancer, Pain
Interventions
Azacitidine, Docetaxel, Prednisone, GADD45α methylation and expression analysis, Pegfilgrastim, Filgrastim
Drug · Genetic
Lead sponsor
University of Miami
Other
Eligibility
18 Years to 120 Years · Male only
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2015
U.S. locations
1
States / cities
Miami, Florida
Source: ClinicalTrials.gov public record
Updated Jun 8, 2016 · Synced Sep 13, 2026, 5:33 PM EDT
Not listed No phase listed Observational

Gene-STEPS: Shortening Time of Evaluation in Paediatric Epilepsy Services

NCT06082999
View directory record Official record
Conditions
Epilepsy
Interventions
Not listed
Lead sponsor
Great Ormond Street Hospital for Children NHS Foundation Trust
Other
Eligibility
Up to 12 Months
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 12, 2023 · Synced Sep 13, 2026, 5:33 PM EDT
Completed No phase listed Observational

Comprehensive Genomic Analysis in Tissue and Blood Samples From Young Patients With Lung Cancer

NCT02273336
View directory record Official record
Conditions
Non-small Cell Lung Cancer, Small Cell Lung Cancer
Interventions
cytology specimen collection procedure, laboratory biomarker analysis
Other
Lead sponsor
University of Southern California
Other
Eligibility
Up to 39 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2020
U.S. locations
2
States / cities
Los Angeles, California • Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 17, 2021 · Synced Sep 13, 2026, 5:33 PM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Genomic Sequencing for Evaluation of Fetal Structural Anomalies

NCT06054230
View directory record Official record
Conditions
Fetal Structural Anomalies
Interventions
Genomic Sequencer
Device
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 64 Years
Enrollment
500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2030
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 16, 2026 · Synced Sep 13, 2026, 5:33 PM EDT
Recruiting No phase listed Observational

Genomic Analysis of Families With a History of Discordant Cancers

NCT04860453
View directory record Official record
Conditions
Discordant Cancers
Interventions
WES via Illumina NextSeq 550 sequencing system, Blood Draw, Skin biopsy, Saliva Sample
Genetic · Diagnostic Test
Lead sponsor
Case Comprehensive Cancer Center
Other
Eligibility
18 Years to 100 Years
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2028
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Sep 2, 2025 · Synced Sep 13, 2026, 5:33 PM EDT
Active, not recruiting Not applicable Interventional

Implementing a Randomized Control Trial to Test the Expanded Web-based Decision Aid

NCT06910670
View directory record Official record
Conditions
Cholangiocarcinoma, Colorectal Cancer, Multiple Myeloma
Interventions
Standard developed materials, Genetics Advisor Decision Aid
Other
Lead sponsor
Washington University School of Medicine
Other
Eligibility
18 Years and older
Enrollment
197 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Sep 8, 2026 · Synced Sep 13, 2026, 5:33 PM EDT
Not listed No phase listed Observational

Molecular Testing of Cancer by Integrated Genomic, Transcriptomic, and Proteomic Analysis

NCT02213822
View directory record Official record
Conditions
Solid Tumors, Hematological Malignancies
Interventions
Molecular Analysis of Cancer
Other
Lead sponsor
Rhode Island Hospital
Other
Eligibility
18 Years and older
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2015
U.S. locations
3
States / cities
East Greenwich, Rhode Island • Providence, Rhode Island
Source: ClinicalTrials.gov public record
Updated Aug 26, 2014 · Synced Sep 13, 2026, 5:33 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

NCT00950118
View directory record Official record
Conditions
Congenital Diaphragmatic Hernia
Interventions
Not listed
Lead sponsor
Columbia University
Other
Eligibility
Not listed
Enrollment
3,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2026
U.S. locations
13
States / cities
Chicago, Illinois • Ann Arbor, Michigan • St Louis, Missouri + 9 more
Source: ClinicalTrials.gov public record
Updated Dec 11, 2025 · Synced Sep 13, 2026, 5:33 PM EDT
Completed No phase listed Observational Results available

LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies

NCT02699190
View directory record Official record
Conditions
Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy, AMN, ALD, ALD (Adrenoleukodystrophy), X-linked Adrenoleukodystrophy, X-ALD, Adrenomyeloneuropathy, Aicardi Goutieres Syndrome, AGS, Alexander Disease, Alexanders Leukodystrophy, AxD, ADLD, Canavan Disease, CTX, Cerebrotendinous Xanthomatoses, Krabbe Disease, GALC Deficiency, Globoid Leukodystrophy, TUBB4A-Related Leukodystrophy, H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum, HBSL, HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity, LBSL, Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder), Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation, ALSP, CSF1R Gene Mutation, HCC - Hypomyelination and Congenital Cataract, MLC1, Megalencephalic Leukoencephalopathy With Subcortical Cysts 1, MLD, Metachromatic Leukodystrophy, PMD, Pelizaeus-Merzbacher Disease, PLP1 Null Syndrome, PLP1 Gene Duplication | Blood or Tissue | Mutations, Pelizaeus-Merzbacher-Like Disease, 1, Peroxisomal Biogenesis Disorder, Zellweger Syndrome, Refsum Disease, Salla Disease, Sialic Storage Disease, Sjögren, Sjogren-Larsson Syndrome, Van Der Knapp Disease, Vanishing White Matter Disease, Charcot-Marie-Tooth, CMT, Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency, Allan-Herndon-Dudley Syndrome, Cadasil, Cockayne Syndrome, Multiple Sulfatase Deficiency, Gangliosidoses, GM2 Gangliosidosis, BPAN, Labrune Syndrome, LCC, Mucopolysaccharidoses, TBCK-Related Intellectual Disability Syndrome
Interventions
Not listed
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
Up to 18 Years
Enrollment
236 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Nov 9, 2025 · Synced Sep 13, 2026, 5:33 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

A Safety Study Assessing the Effects of Receiving Genome Sequencing Results

NCT01692223
View directory record Official record
Conditions
History of Cancer
Interventions
qualitative interviews
Behavioral
Lead sponsor
Memorial Sloan Kettering Cancer Center
Other
Eligibility
18 Years and older
Enrollment
8 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2018
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Aug 1, 2018 · Synced Sep 13, 2026, 5:33 PM EDT
Completed Not applicable Interventional

Genome Sequencing of Human Cancer Tissues

NCT02105545
View directory record Official record
Conditions
Cancer
Interventions
Cancer Treatment Options
Other
Lead sponsor
New Mexico Cancer Research Alliance
Other
Eligibility
Not listed
Enrollment
250 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2023
U.S. locations
1
States / cities
Albuquerque, New Mexico
Source: ClinicalTrials.gov public record
Updated May 21, 2025 · Synced Sep 13, 2026, 5:33 PM EDT
Completed No phase listed Observational Accepts healthy volunteers Results available

Prenatal Genetic Diagnosis by Genomic Sequencing

NCT03936101
View directory record Official record
Conditions
Fetal Structural Anomalies
Interventions
Prenatal Genomic Sequencing
Diagnostic Test
Lead sponsor
Columbia University
Other
Eligibility
18 Years and older
Enrollment
1,097 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2024
U.S. locations
5
States / cities
New York, New York • Chapel Hill, North Carolina • Cincinnati, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Oct 26, 2025 · Synced Sep 13, 2026, 5:33 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in MDS

NCT05434598
View directory record Official record
Conditions
Whole Genome Sequencing, Myelodysplastic Syndromes
Interventions
ChromoSeq
Device
Lead sponsor
Washington University School of Medicine
Other
Eligibility
18 Years and older
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2027
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Dec 10, 2025 · Synced Sep 13, 2026, 5:33 PM EDT
Completed No phase listed Observational

Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols

NCT01375543
View directory record Official record
Conditions
Genetic Predisposition
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
128 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 5, 2020 · Synced Sep 13, 2026, 5:33 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Oral Microbiome and Pancreatic Cancer

NCT03302637
View directory record Official record
Conditions
Pancreatic Cancer
Interventions
16S rRNA gene sequencing assay
Other
Lead sponsor
NYU Langone Health
Other
Eligibility
55 Years to 74 Years
Enrollment
732 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1992 – 2010
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Oct 5, 2017 · Synced Sep 13, 2026, 5:33 PM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Malignant Hyperthermia Registry and Genetic Testing

NCT02964481
View directory record Official record
Conditions
Malignant Hyperthermia
Interventions
Whole exome sequencing
Genetic
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
Not listed
Enrollment
64 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2017
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Sep 2, 2020 · Synced Sep 13, 2026, 5:33 PM EDT
Completed No phase listed Observational

Gene Expression in Patients With Metastatic Prostate Cancer Receiving CYP-17 Inhibition Therapy

NCT01953640
View directory record Official record
Conditions
Hormone-Resistant Prostate Cancer, Metastatic Prostate Carcinoma, Prostate Adenocarcinoma, Recurrent Prostate Carcinoma
Interventions
Laboratory Biomarker Analysis, Quality-of-Life Assessment
Other
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older · Male only
Enrollment
92 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2023
U.S. locations
3
States / cities
Scottsdale, Arizona • Jacksonville, Florida • Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Aug 13, 2026 · Synced Sep 13, 2026, 5:33 PM EDT
Recruiting No phase listed Observational

Familial Investigations of Childhood Cancer Predisposition

NCT03050268
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jun 16, 2026 · Synced Sep 13, 2026, 5:33 PM EDT
Completed Not applicable Interventional

NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing

NCT01969370
View directory record Official record
Conditions
Cancer, Cardiovascular Disease, Neurologic Dysfunction, Congenital Abnormalities, Hearing Loss
Interventions
Experimental
Behavioral
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
Not listed
Enrollment
645 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2017
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated May 2, 2017 · Synced Sep 13, 2026, 5:33 PM EDT
Completed No phase listed Observational

Comprehensive Gene Sequencing in Guiding Treatment Recommendations Patients With Metastatic or Recurrent Solid Tumors

NCT01987726
View directory record Official record
Conditions
Recurrent Breast Cancer, Recurrent Colon Cancer, Recurrent Rectal Cancer, Stage IV Breast Cancer, Stage IVA Colon Cancer, Stage IVA Rectal Cancer, Stage IVB Colon Cancer, Stage IVB Rectal Cancer
Interventions
cytology specimen collection procedure, laboratory biomarker analysis
Other
Lead sponsor
Ohio State University Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2021
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Oct 27, 2021 · Synced Sep 13, 2026, 5:33 PM EDT
Not listed No phase listed Observational

Imaging and Omics for Cardiovascular Risk During NASA Deep Space Missions

NCT02465554
View directory record Official record
Conditions
Coronary Artery Disease
Interventions
Myocardial contrast echocardiography
Procedure
Lead sponsor
Oregon Health and Science University
Other
Eligibility
35 Years to 55 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Jan 11, 2018 · Synced Sep 13, 2026, 5:33 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

NeuroSeq: A Prospective Trial to Evaluate the Diagnostic Yield of Whole Genome Sequencing (WGS) in Adult Neurology

NCT04170985
View directory record Official record
Conditions
Neurologic Deficits, Neurologic Disorder, Neurologic Abnormalities
Interventions
clinical Whole Genome Sequencing
Other
Lead sponsor
Illumina, Inc.
Industry
Eligibility
18 Years and older
Enrollment
160 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2024
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 30, 2024 · Synced Sep 13, 2026, 5:33 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Genomic Sequencing in Anatomically Normal Fetuses

NCT06211348
View directory record Official record
Conditions
Pregnant Individuals Requesting Standard Microarray
Interventions
Genomic Sequencing
Device
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 64 Years
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2030
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 7, 2026 · Synced Sep 13, 2026, 5:33 PM EDT