- Conditions
- Rare Diseases
- Interventions
- clinical whole genome sequencing (cWGS)
- Other
- Lead sponsor
- Illumina, Inc.
- Industry
- Eligibility
- 1 Day to 120 Days
- Enrollment
- 355 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2020
- U.S. locations
- 5
- States / cities
- Orange, California • St Louis, Missouri • Omaha, Nebraska + 2 more
Search Results
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Showing 1–24
of 47
matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
- Conditions
- Genetic Disease, Genetic Syndrome
- Interventions
- Rapid Whole Genome Sequencing (rWGS)
- Diagnostic Test
- Lead sponsor
- University of Illinois College of Medicine at Peoria
- Other
- Eligibility
- 0 Months to 4 Months
- Enrollment
- 115 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2022
- U.S. locations
- 1
- States / cities
- Peoria, Illinois
- Conditions
- Eczema Herpeticum
- Interventions
- Not listed
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
- NIH
- Eligibility
- 3 Years to 64 Years
- Enrollment
- 69 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2020
- U.S. locations
- 1
- States / cities
- Denver, Colorado
- Conditions
- Bone Marrow Failure Syndromes, Erythrocyte Disorder, Leukocyte Disorder, Hemostasis, Blood Coagulation Disorder, Sickle Cell Disease, Dyskeratosis Congenita, Diamond-Blackfan Anemia, Congenital Thrombocytopenia, Severe Congenital Neutropenia, Fanconi Anemia, Myelodysplastic Syndromes, Myeloproliferative Diseases
- Interventions
- Not listed
- Lead sponsor
- St. Jude Children's Research Hospital
- Other
- Eligibility
- Not listed
- Enrollment
- 1,716 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2016 – 2050
- U.S. locations
- 1
- States / cities
- Memphis, Tennessee
- 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
- 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
- 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
- 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
- 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
- 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
- Conditions
- Genetic Disease, Genetic Syndrome
- Interventions
- Genetic Enrollees
- Genetic
- Lead sponsor
- Nicklaus Children's Hospital f/k/a Miami Children's Hospital
- Other
- Eligibility
- Up to 21 Years
- Enrollment
- 1,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2018 – 2070
- U.S. locations
- 1
- States / cities
- Miami, Florida
- Conditions
- Hereditary Disease, Genetic Predisposition to Disease
- Interventions
- Whole Genome Sequencing
- Genetic
- Lead sponsor
- Massachusetts General Hospital
- Other
- Eligibility
- 3 Months and older
- Enrollment
- 200 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2018 – 2020
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- Conditions
- Pregnant
- Interventions
- Not listed
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- NIH
- Eligibility
- 18 Years to 50 Years · Female only
- Enrollment
- 553 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2019
- U.S. locations
- 1
- States / cities
- Falls Church, Virginia
- Conditions
- Whole Genome Sequencing
- Interventions
- Genetic Counselor, Trained Healthcare Provider
- Behavioral
- Lead sponsor
- University of Alabama at Birmingham
- Other
- Eligibility
- Not listed
- Enrollment
- 477 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2019 – 2023
- U.S. locations
- 3
- States / cities
- Birmingham, Alabama • Baton Rouge, Louisiana • Jackson, Mississippi
- Conditions
- Genetic Diseases, Inborn
- Interventions
- Sequence
- Other
- Lead sponsor
- Milton S. Hershey Medical Center
- Other
- Eligibility
- 1 Day and older
- Enrollment
- 3 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2020
- U.S. locations
- 1
- States / cities
- Hershey, Pennsylvania
- Conditions
- Waldenstrom's Macroglobulinemia
- Interventions
- Ibrutinib
- Drug
- Lead sponsor
- Dana-Farber Cancer Institute
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 31 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2016 – 2022
- U.S. locations
- 2
- States / cities
- Boston, Massachusetts
- Conditions
- Parkinson's Disease
- Interventions
- Lab Assay for seven genetic variants for Parkinson's Disease
- Device
- Lead sponsor
- Parkinson's Foundation
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 35,382 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2027
- U.S. locations
- 63
- States / cities
- Birmingham, Alabama • Chandler, Arizona • Phoenix, Arizona + 50 more
- Conditions
- Whole Genome Sequencing
- Interventions
- Not listed
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- NIH
- Eligibility
- 18 Years and older
- Enrollment
- 212 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2013 – 2021
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Coronavirus Infection, COVID-19
- Interventions
- Not listed
- Lead sponsor
- Vanda Pharmaceuticals
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 79 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2022
- U.S. locations
- 1
- States / cities
- Cleveland, Ohio
- Conditions
- Undiagnosed Disease
- Interventions
- Not listed
- Lead sponsor
- University of Pittsburgh
- Other
- Eligibility
- Up to 100 Years
- Enrollment
- 300 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2016 – 2040
- U.S. locations
- 1
- States / cities
- Pittsburgh, Pennsylvania
- Conditions
- Cardiovascular Diseases
- Interventions
- TruGenome Cardiovascular Disease test
- Diagnostic Test
- Lead sponsor
- Illumina, Inc.
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 1,500 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2023 – 2025
- U.S. locations
- 1
- States / cities
- Detroit, Michigan
- 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
- Genetic Diseases, Genetic Syndrome
- Interventions
- Genomic sequencing and molecular diagnostic results, if any
- Genetic
- Lead sponsor
- Rady Pediatric Genomics & Systems Medicine Institute
- Other
- Eligibility
- Not listed
- Enrollment
- 100,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2017 – 2050
- U.S. locations
- 1
- States / cities
- San Diego, California
- Conditions
- Genetic Eye Disease
- Interventions
- Not listed
- Lead sponsor
- National Eye Institute (NEI)
- NIH
- Eligibility
- 1 Day to 120 Years
- Enrollment
- 2,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2029
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland