- Conditions
- Structural Anomalies, Cardiac Anomalies, Central Nervous System Anomalies, Thorax Anomalies, Genito-urinary Anomalies, Gastrointestinal Anomalies, Skeletal Anomalies, Multiple Anomalies
- Interventions
- Whole Exome Sequencing (WES)
- Device
- Lead sponsor
- University of California, San Francisco
- Other
- Eligibility
- 18 Years to 64 Years · Female only
- Enrollment
- 316 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2022
- U.S. locations
- 1
- States / cities
- San Francisco, California
Search Results
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Search by query text, NCT ID, condition, intervention, sponsor, city, state, recruitment status, phase, study type, healthy volunteer eligibility, sex, or age. Results are retrieved from ClinicalTrials.gov and synchronized into the directory. Search pages remain noindex by default.
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Showing 1–17
of 17
matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
- Conditions
- Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease
- Interventions
- Well infant, whole exome sequencing, Diagnosed, whole exome sequencing
- Genetic
- Lead sponsor
- University of North Carolina, Chapel Hill
- Other
- Eligibility
- 1 Hour to 5 Years
- Enrollment
- 106 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2016 – 2019
- U.S. locations
- 1
- States / cities
- Chapel Hill, North Carolina
- Conditions
- Infant, Newborn, Disease, Genetic Disease
- Interventions
- Neonate WGS Testing
- Diagnostic Test
- Lead sponsor
- Jerry Vockley, MD, PhD
- Other
- Eligibility
- Up to 1 Year
- Enrollment
- 400 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2027
- U.S. locations
- 1
- States / cities
- Pittsburgh, Pennsylvania
- Conditions
- Genetic Disease
- Interventions
- Whole genome sequencing, BeginNGS test, WES
- Genetic
- Lead sponsor
- Rady Pediatric Genomics & Systems Medicine Institute
- Other
- Eligibility
- 1 Day to 10 Days
- Enrollment
- 120 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2023 – 2024
- U.S. locations
- 1
- States / cities
- San Diego, California
- Conditions
- Cancer, Cancer Gene Mutation, PAN Gene Mutation, Hematopoietic and Lymphoid System Neoplasm, Malignant Solid Neoplasm
- Interventions
- Pan-genomic Testing
- Genetic
- Lead sponsor
- Mayo Clinic
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 500 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2023 – 2033
- U.S. locations
- 3
- States / cities
- Scottsdale, Arizona • Jacksonville, Florida • Rochester, Minnesota
- Conditions
- Nonimmune Fetal Hydrops, Nonimmune Hydrops in Neonate, Genetic Disorders
- Interventions
- Whole Exome Sequencing, Whole Genome Sequencing
- Diagnostic Test
- Lead sponsor
- Thomas Jefferson University
- Other
- Eligibility
- 16 Years to 55 Years
- Enrollment
- 55 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2025
- U.S. locations
- 1
- States / cities
- Philadelphia, Pennsylvania
- Conditions
- Breast Carcinoma, Colon Carcinoma, Invasive Carcinoma, Kidney Carcinoma, Liver Carcinoma, Malignant Solid Neoplasm, Multiple Myeloma, Prostate Carcinoma
- Interventions
- Biospecimen Collection, Laboratory Biomarker Analysis
- Procedure · Other
- Lead sponsor
- National Cancer Institute (NCI)
- NIH
- Eligibility
- 18 Years and older
- Enrollment
- 2,400 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2026
- U.S. locations
- 1
- States / cities
- Rockville, Maryland
- Conditions
- Pancreatic Cancer
- Interventions
- Fine Needle Biopsy (FNB), Fine Needle Aspiration (FNA)
- Device
- Lead sponsor
- Mayo Clinic
- Other
- Eligibility
- 18 Years to 100 Years
- Enrollment
- 50 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2016 – 2018
- U.S. locations
- 1
- States / cities
- Jacksonville, Florida
- Conditions
- Esophageal Neoplasm, Esophageal Neoplasms Malignancy Unspecified, Esophageal Neoplasms Malignant, Cancer of Esophagus, Cancer of the Esophagus, Esophageal Cancer, Esophagus Cancer, Neoplasm, Esophageal
- Interventions
- Blood and Tissue Collection
- Other
- Lead sponsor
- Mayo Clinic
- Other
- Eligibility
- 19 Years and older
- Enrollment
- 11 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2020
- U.S. locations
- 1
- States / cities
- Rochester, Minnesota
- Conditions
- Encephalopathy, Birth Defect, Intellectual Disability, Multiple Congenital Anomaly, Metabolic Disease, Epilepsy, Neuro-Degenerative Disease, Cerebral Palsy, Developmental Delay, Developmental Defect
- Interventions
- Whole Exome Sequencing
- Diagnostic Test
- Lead sponsor
- University of California, San Francisco
- Other
- Eligibility
- Up to 25 Years
- Enrollment
- 529 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2022
- U.S. locations
- 4
- States / cities
- Fresno, California • Oakland, California • San Francisco, California
- Conditions
- Genetic Predisposition, Cancer
- Interventions
- DNA or RNA Sequencing
- Genetic
- Lead sponsor
- The University of Texas Health Science Center at San Antonio
- Other
- Eligibility
- Not listed
- Enrollment
- 100 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2026 – 2035
- U.S. locations
- 1
- States / cities
- San Antonio, Texas
- Conditions
- Glioma, Glioma of Brain, Cancer, Pediatric Cancer, Pediatric Brain Tumor, Astrocytoma, Glioblastoma, Hemispheric
- Interventions
- Specialized tumor board recommendation
- Other
- Lead sponsor
- University of California, San Francisco
- Other
- Eligibility
- Up to 21 Years
- Enrollment
- 44 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2018 – 2026
- U.S. locations
- 12
- States / cities
- San Diego, California • San Francisco, California • Washington D.C., District of Columbia + 9 more
- 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
- Conditions
- Genetic Diseases, Genetic Syndrome, Mendelian Disorders
- Interventions
- Genomic sequencing and molecular diagnostic results, if any.
- Genetic
- Lead sponsor
- Rady Pediatric Genomics & Systems Medicine Institute
- Other
- Eligibility
- Up to 4 Months
- Enrollment
- 213 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2024
- U.S. locations
- 1
- States / cities
- San Diego, California
- 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
- Conditions
- Epilepsy, Epileptic Encephalopathy
- Interventions
- Exome and/or whole genome sequencing
- Genetic
- Lead sponsor
- Boston Children's Hospital
- Other
- Eligibility
- Not listed
- Enrollment
- 5,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2010 – 2030
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- Conditions
- Appendix Cancer, Appendiceal Cancer, Appendiceal Neoplasms, Appendiceal Mucinous Neoplasm, Appendiceal Adenocarcinoma, Appendiceal Carcinoid Tumor, Appendiceal Neoplasm Malignant Secondary, Appendix Adenocarcinoma, Appendix Mucinous Neoplasm, Appendix Tumor, Appendix Cancer Metastatic, Appendix NET, Low-Grade Appendix Mucinous Neoplasm, High Grade Appendix Mucinous Neoplasm, High Grade Appendix Mucinous Adenocarcinoma
- Interventions
- Genetic profiling, Retrospective tissue procurement
- Genetic · Other
- Lead sponsor
- Andreana Holowatyj, PhD, MSCI
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 700 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2022 – 2034
- U.S. locations
- 1
- States / cities
- Nashville, Tennessee