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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: 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

Conditions: Neonatal Encephalopathy, Hypoxic Ischaemic Encephalopathy (HIE)
Interventions: Not listed
Lead sponsor: Boston Children's Hospital; Other
Eligibility: Not listed
Enrollment: 300 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2035
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 &#X7C; Blood or Tissue &#X7C; 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: Acid Base Disorder
Interventions: Targeted genomic sequencing; Diagnostic Test
Lead sponsor: Sharp HealthCare; Other
Eligibility: 1 Day to 6 Months
Enrollment: 100 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2027
U.S. locations: 1
States / cities: San Diego, California

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: Multiple Sclerosis
Interventions: Not listed
Lead sponsor: Columbia University; Other
Eligibility: 18 Years and older
Enrollment: 5,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2017 – 2040
U.S. locations: 5
States / cities: Bethesda, Maryland • Boston, Massachusetts • New York, New York + 1 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: Retinoblastoma Bilateral, Retinoblastoma Unilateral, Retinoblastoma, Extraocular, Retinoblastoma, Recurrent, Retinoblastoma
Interventions: Targeted Long-read sequencing; Genetic
Lead sponsor: University of Washington; Other
Eligibility: Not listed
Enrollment: 100 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2026 – 2031
U.S. locations: 1
States / cities: Seattle, Washington

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: Genetics Disease, Genetics/Birth Defects, Genetic Predisposition to Disease
Interventions: Not listed
Lead sponsor: Boston Children's Hospital; Other
Eligibility: 0 Days to 99 Years
Enrollment: 631 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2027
U.S. locations: 10
States / cities: Mobile, Alabama • Miami, Florida • Boston, Massachusetts + 6 more

Conditions: Lysosomal Diseases, Gangliosidosis, GM1
Interventions: AAV9-GLB1, Abdominal ultrasound, Rituximab, Sirolimus, Methylprednisolone, Prednisone, Audiology assessment with ABR, Bone density scan (DEXA), Electrocardiogram (EKG), Echocardiogram, Electroencephalogram (EEG) awake and extended overnight, Laboratory tests, Lumbar puncture, Brain MRI/MRS/fMRI, Neurocognitive testing, Neurology exam, PICC or other Central line placement, Skeletal survey, Skin biopsy, Speech and modified barium swallow study, Ophthalmology exam; Biological · Procedure · Drug + 3 more
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 6 Months to 12 Years
Enrollment: 54 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2030
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Neonatal Epilepsy, Infantile Epilepsy
Interventions: Genomic Sequencing; Genetic
Lead sponsor: Boston Children's Hospital; Other
Eligibility: Not listed
Enrollment: 600 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2029
U.S. locations: 1
States / cities: Boston, Massachusetts

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: Hypoxic Ischemic Encephalopathy of Newborn, Hypoxic Ischemic Encephalopathy, Hypoxic Ischemic Encephalopathy (HIE)
Interventions: Genome sequencing; Genetic
Lead sponsor: Baylor College of Medicine; Other
Eligibility: 0 Days to 1 Year
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2027
U.S. locations: 1
States / cities: Houston, Texas

Conditions: Solid, Liquid, Central Nervous System Tumors
Interventions: Study Introduction Visit, Informed Consent Visit, Informed Consent Follow-Up Visit, Return of Results Conversation, Return of Results Follow-Up Visits, Blood Sample, Skin Biopsy; Other · Procedure
Lead sponsor: St. Jude Children's Research Hospital; Other
Eligibility: Not listed
Enrollment: 2,500 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2053
U.S. locations: 1
States / cities: Memphis, Tennessee

Conditions: Fertility Issues, Single-Gene Defects
Interventions: Embryo genome sequencing, Parents genome sequencing; Other
Lead sponsor: GenEmbryomics Pty. Ltd; Industry
Eligibility: 18 Years to 48 Years
Enrollment: 100 participants
Timeline: 2023 – 2024
U.S. locations: 3
States / cities: New York, New York • Portland, Oregon • Kirkland, Washington

Conditions: Genetic Predisposition to Disease, Hereditary Diseases
Interventions: Genome Sequencing; Genetic
Lead sponsor: Brigham and Women's Hospital; Other
Eligibility: 0 Months to 12 Months
Enrollment: 500 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2022 – 2025
U.S. locations: 4
States / cities: Birmingham, Alabama • Boston, Massachusetts • Royal Oak, Michigan + 1 more

Conditions: Rare Diseases, Genetic Disease, Undiagnosed Disease
Interventions: Trio Whole Genome Sequencing and Participant-Specific Research; Diagnostic Test
Lead sponsor: University of Wisconsin, Madison; Other
Eligibility: Up to 100 Years
Enrollment: 1,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2030
U.S. locations: 1
States / cities: Madison, Wisconsin

Conditions: Hereditary Disease, Genetic Predisposition to Disease
Interventions: Genomic sequencing, Family history report; Genetic · Other
Lead sponsor: Brigham and Women's Hospital; Other
Eligibility: Not listed
Enrollment: 1,205 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2021
U.S. locations: 2
States / cities: Boston, Massachusetts

Search by objective public record fields.

Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study

Clinical Utility of Prenatal Whole Exome Sequencing

Genetics of Neonatal Encephalopathy and Related Disorders

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

Rapid Diagnostics for Genetic Disorders in Neonates

South-seq: Deoxyribonucleic Acid (DNA) Sequencing for Newborn Nurseries in the South

Genes and Environment in Multiple Sclerosis

A Study of Consent Forms for Whole Exome and Whole Genome Sequencing

Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis.

North Carolina Newborn Exome Sequencing for Universal Screening

Genome Sequencing in the Intensive Care Unit Population

VIGOR: Virtual Genome Center for Infant Health

A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis

Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis

Clinical Utility of Pediatric Whole Exome Sequencing

The HIEnome Study: Genome Sequencing for Perinatal HIE

Next Generation Sequencing of Normal Tissues Prospectively in Pediatric Oncology Patients

Whole Genome Sequencing (WGS) on IVF Embryos and Individual Patients

Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants

UW Undiagnosed Genetic Diseases Program

Genomic Sequencing for Childhood Risk and Newborn Illness