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Showing 1–16 of 16 matching trials from the live ClinicalTrials.gov search.
Conditions
Acute Myeloid Leukemia (AML), Acute Promyelocytic Leukemia (APL), Refractory Anemia With Excess of Blasts (RAEB)
Interventions
Not listed
Lead sponsor
Skyline Diagnostics BV
Industry
Eligibility
18 Years and older
Enrollment
264 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2013
U.S. locations
2
States / cities
New York, New York • Columbus, Ohio
Recruiting Not applicable Interventional Accepts healthy volunteers

Genomic Uniformed-Screening Against Rare Disease In All Newborns

NCT05990179
Conditions
Early Onset Genetic Conditions With Near Complete Penetrance
Interventions
Genome sequencing-based newborn screening
Other
Lead sponsor
Columbia University
Other
Eligibility
1 Day to 1 Month
Enrollment
100,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2029
U.S. locations
1
States / cities
New York, New York
Conditions
Preeclampsia
Interventions
Not listed
Lead sponsor
Illumina, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
242 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
10
States / cities
Newark, Delaware • Boston, Massachusetts • New Brunswick, New Jersey + 6 more
Conditions
Early Pregnancy Loss
Interventions
cfDNA analysis
Genetic
Lead sponsor
Quest Diagnostics-Nichols Insitute
Industry
Eligibility
18 Years to 50 Years · Female only
Enrollment
78 participants
Timeline
2021 – 2022
U.S. locations
1
States / cities
San Juan Capistrano, California
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Early Check: Expanded Screening in Newborns

NCT03655223
Conditions
Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy, Hyperinsulinemic Hypoglycemia, Familial 1, Diabetes Mellitus, Adrenoleukodystrophy, Neonatal, Medium-chain Acyl-CoA Dehydrogenase Deficiency, Very Long Chain Acyl Coa Dehydrogenase Deficiency, Beta-ketothiolase Deficiency, Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency, Primary Hyperoxaluria Type 1, Congenital Bile Acid Synthesis Defect Type 2, Pyridoxine-Dependent Epilepsy, Hereditary Fructose Intolerance, Hypophosphatasia, Hyperargininemia, Mucopolysaccharidosis Type 6, Argininosuccinic Aciduria, Citrullinemia, Type I, Wilson Disease, Maple Syrup Urine Disease, Type 1A, Maple Syrup Urine Disease, Type 1B, Biotinidase Deficiency, Neonatal Severe Primary Hyperparathyroidism, Intrinsic Factor Deficiency, Usher Syndrome Type 1D/F Digenic (Diagnosis), Cystic Fibrosis, Stickler Syndrome Type 2, Stickler Syndrome Type 1, Alport Syndrome, Autosomal Recessive, Alport Syndrome, X-Linked, Carbamoyl Phosphate Synthetase I Deficiency Disease, Carnitine Palmitoyl Transferase 1A Deficiency, Carnitine Palmitoyltransferase II Deficiency, Cystinosis, Chronic Granulomatous Disease, Cerebrotendinous Xanthomatoses, Maple Syrup Urine Disease, Type 2, Severe Combined Immunodeficiency Due to DCLRE1C Deficiency, Thyroid Dyshormonogenesis 6, Thyroid Dyshormonogenesis 5, Supravalvar Aortic Stenosis, Factor X Deficiency, Hemophilia A, Hemophilia B, Tyrosinemia, Type I, Fructose 1,6 Bisphosphatase Deficiency, Glycogen Storage Disease Type I, G6PD Deficiency, Glycogen Storage Disease II, Galactokinase Deficiency, Mucopolysaccharidosis Type IV A, Galactosemias, Guanidinoacetate Methyltransferase Deficiency, Agat Deficiency, Glutaryl-CoA Dehydrogenase Deficiency, Gtp Cyclohydrolase I Deficiency, Hyperinsulinism-Hyperammonemia Syndrome, Primary Hyperoxaluria Type 2, 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Mitochondrial Trifunctional Protein Deficiency, Sickle Cell Disease, Beta-Thalassemia, Holocarboxylase Synthetase Deficiency, 3-Hydroxy-3-Methylglutaric Aciduria, Primary Hyperoxaluria Type 3, Hermansky-Pudlak Syndrome 1, Hermansky-Pudlak Syndrome 4, Apparent Mineralocorticoid Excess, HSDB, CBAS1, Mucopolysaccharidosis Type 2, Mucopolysaccharidosis Type 1, Severe Combined Immunodeficiency, X Linked, Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiency, Diabetes Mellitus, Permanent Neonatal, Isovaleric Acidemia, Severe Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder), Jervell and Lange-Nielsen Syndrome 2, Hyperinsulinemic Hypoglycemia, Familial, 2, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Jervell and Lange-Nielsen Syndrome 1, Lysosomal Acid Lipase Deficiency, CblF, 3-Methylcrotonyl CoA Carboxylase 1 Deficiency, 3-Methylcrotonyl CoA Carboxylase 2 Deficiency, Waardenburg Syndrome Type 2A, Methylmalonic Aciduria cblA Type, Methylmalonic Aciduria cblB Type, Methylmalonic Aciduria and Homocystinuria Type cblC, MAHCD, Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency, Congenital Disorder of Glycosylation Type 1B, Mthfr Deficiency, Methylcobalamin Deficiency Type Cbl G (Disorder), Methylcobalamin Deficiency Type cblE, Usher Syndrome, Type 1B, N-acetylglutamate Synthase Deficiency, Ornithine Transcarbamylase Deficiency, Phenylketonurias, Waardenburg Syndrome Type 1, Congenital Hypothyroidism, Propionic Acidemia, Usher Syndrome, Type 1F, Pancreatic Agenesis 1, Hereditary Hypophosphatemic Rickets, Glycogen Storage Disease IXB, Glycogen Storage Disease IXC, MOWS, Epilepsy, Early-Onset, Vitamin B6-Dependent, Pyridoxal Phosphate-Responsive Seizures, Pituitary Hormone Deficiency, Combined, 1, Ptsd, Dihydropteridine Reductase Deficiency, Severe Combined Immunodeficiency Due to RAG1 Deficiency, Severe Combined Immunodeficiency Due to RAG2 Deficiency, Retinoblastoma, Multiple Endocrine Neoplasia Type 2B, Pseudohypoaldosteronism, Type I, Liddle Syndrome, Biotin-Responsive Basal Ganglia Disease, SCD, DIAR1, GSD1C, Acrodermatitis Enteropathica, Thyroid Dyshormonogenesis 1, Riboflavin Transporter Deficiency, Waardenburg Syndrome, Type 2E, SRD, Congenital Lipoid Adrenal Hyperplasia Due to STAR Deficiency, Barth Syndrome, Adrenocorticotropic Hormone Deficiency, Transcobalamin II Deficiency, Thyroid Dyshormonogenesis 3, Segawa Syndrome, Autosomal Recessive, Autosomal Recessive Nonsyndromic Hearing Loss, Thyroid Dyshormonogenesis 2A, Congenital Isolated Thyroid Stimulating Hormone Deficiency, Hypothyroidism Due to TSH Receptor Mutations, Usher Syndrome Type 1C, Usher Syndrome Type 1G (Diagnosis), Von Willebrand Disease, Type 3, Combined Immunodeficiency Due to ZAP70 Deficiency, Adenine Phosphoribosyltransferase Deficiency, Metachromatic Leukodystrophy, Canavan Disease, Menkes Disease, Carbonic Anhydrase VA Deficiency, Developmental and Epileptic Encephalopathy 2, 17 Alpha-Hydroxylase Deficiency, Smith-Lemli-Opitz Syndrome, Krabbe Disease, Glutathione Synthetase Deficiency, Mucopolysaccharidosis Type 7, Rett Syndrome, Molybdenum Cofactor Deficiency, Type A, Niemann-Pick Disease, Type C1, Niemann-Pick Disease Type C2, Ornithine Aminotransferase Deficiency, 3-Phosphoglycerate Dehydrogenase Deficiency, Leber Congenital Amaurosis 2, Dravet Syndrome, Mucopolysaccharidosis Type 3 A, Ornithine Translocase Deficiency, Carnitine-acylcarnitine Translocase Deficiency, Glucose Transporter Type 1 Deficiency Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type A, Pitt Hopkins Syndrome, Tuberous Sclerosis 1, Tuberous Sclerosis 2, Ataxia With Isolated Vitamin E Deficiency, Angelman Syndrome, Prader-Willi Syndrome, Homocystinuria, Permanent Neonatal Diabetes Mellitus, Transient Neonatal Diabetes Mellitus, Factor VII Deficiency, Glycogen Storage Disease Type IXA1, Glycogen Storage Disease, Type IXA2, Glycogen Storage Disease IC, Glycogen Storage Disease Type IB, Central Hypoventilation Syndrome With or Without Hirschsprung Disease
Interventions
Confirmatory Testing
Diagnostic Test
Lead sponsor
RTI International
Other
Eligibility
1 Day to 31 Days
Enrollment
30,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2026
U.S. locations
1
States / cities
Research Triangle Park, North Carolina
Conditions
SARS-CoV-2
Interventions
Diagnostic test for detection of SARS-CoV-2
Diagnostic Test
Lead sponsor
Illumina, Inc.
Industry
Eligibility
18 Years and older
Enrollment
644 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2021
U.S. locations
1
States / cities
Winter Park, Florida
Completed Not applicable Interventional Results available

Single Embryo TrAnsfeR of Euploid Embryo

NCT02268786
Conditions
Infertility, Aneuploidy
Interventions
Preimplantation Genetic Screening by NGS
Other
Lead sponsor
Illumina, Inc.
Industry
Eligibility
25 Years to 40 Years · Female only
Enrollment
661 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
28
States / cities
Tempe, Arizona • Encino, California • Laguna Niguel, California + 24 more
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
Breast Cancer, Preneoplastic Conditions, Ductal Carcinoma in Situ
Interventions
Nipple aspirator, Ductal lavage microcatheter, Blood draw
Device
Lead sponsor
Atossa Therapeutics, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
6 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2012
U.S. locations
1
States / cities
Santa Monica, California
Conditions
SARS-CoV-2
Interventions
COVIDSeq Test
Diagnostic Test
Lead sponsor
Illumina, Inc.
Industry
Eligibility
18 Years and older
Enrollment
763 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2021
U.S. locations
3
States / cities
Foster City, California • Hayward, California • San Diego, California
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
Conditions
Pregnancy Related
Interventions
Not listed
Lead sponsor
Illumina, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
3,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
5
States / cities
Los Angeles, California • Riverside, California • Las Vegas, Nevada + 2 more
Conditions
Genetic Disease
Interventions
Not listed
Lead sponsor
Illumina, Inc.
Industry
Eligibility
Not listed
Enrollment
150 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2024
U.S. locations
1
States / cities
Strasburg, Pennsylvania
Conditions
Post-natal Cytogenetics
Interventions
Not listed
Lead sponsor
Illumina, Inc.
Industry
Eligibility
1 Minute and older
Enrollment
900 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011
U.S. locations
3
States / cities
Charleston, South Carolina • Houston, Texas • Salt Lake City, Utah
Conditions
Pregnancy
Interventions
Not listed
Lead sponsor
Illumina, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
2,209 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
8
States / cities
Phoenix, Arizona • Hagerstown, Maryland • Greensboro, North Carolina + 5 more
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