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ClinicalTrials.gov public records Last synced Oct 22, 2026, 8:47 AM EDT

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Showing 1–24 of 168 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Neonatal Screening Clear all
Completed No phase listed Observational

AAV Gene Therapy Screening/Observational Protocol (ECLIPSE)

NCT04272554
View directory record Official record
Conditions
Hemophilia B, Blood Coagulation Disorders, Inherited, Blood Coagulation Disorder, Haematologic Disease
Interventions
Not listed
Lead sponsor
Spur Therapeutics
Industry
Eligibility
16 Years and older · Male only
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
17
States / cities
Phoenix, Arizona • Los Angeles, California • Sacramento, California + 14 more
Source: ClinicalTrials.gov public record
Updated Nov 4, 2022 · Synced Oct 22, 2026, 8:47 AM EDT
Active, not recruiting Phase 2 Interventional Results available

Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial)

NCT03155620
View directory record Official record
Conditions
Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Non-Hodgkin Lymphoma, Ann Arbor Stage IV Non-Hodgkin Lymphoma, Histiocytic Sarcoma, Juvenile Xanthogranuloma, Langerhans Cell Histiocytosis, Malignant Glioma, Recurrent Childhood Rhabdomyosarcoma, Recurrent Ependymoma, Recurrent Ewing Sarcoma, Recurrent Glioma, Recurrent Hepatoblastoma, Recurrent Langerhans Cell Histiocytosis, Recurrent Malignant Germ Cell Tumor, Recurrent Malignant Solid Neoplasm, Recurrent Medulloblastoma, Recurrent Neuroblastoma, Recurrent Non-Hodgkin Lymphoma, Recurrent Osteosarcoma, Recurrent Peripheral Primitive Neuroectodermal Tumor, Recurrent Primary Central Nervous System Neoplasm, Recurrent Rhabdoid Tumor, Recurrent Soft Tissue Sarcoma, Refractory Ewing Sarcoma, Refractory Glioma, Refractory Hepatoblastoma, Refractory Langerhans Cell Histiocytosis, Refractory Malignant Germ Cell Tumor, Refractory Malignant Solid Neoplasm, Refractory Medulloblastoma, Refractory Neuroblastoma, Refractory Non-Hodgkin Lymphoma, Refractory Osteosarcoma, Refractory Peripheral Primitive Neuroectodermal Tumor, Refractory Primary Central Nervous System Neoplasm, Refractory Rhabdoid Tumor, Refractory Rhabdomyosarcoma, Rhabdoid Tumor, Stage III Osteosarcoma AJCC v7, Stage III Soft Tissue Sarcoma AJCC v7, Stage IV Osteosarcoma AJCC v7, Stage IV Soft Tissue Sarcoma AJCC v7, Stage IVA Osteosarcoma AJCC v7, Stage IVB Osteosarcoma AJCC v7, Wilms Tumor
Interventions
Biopsy Procedure, Biospecimen Collection, Bone Marrow Aspiration and Biopsy, Bone Scan, Computed Tomography, Ensartinib, Erdafitinib, Ivosidenib, Laboratory Biomarker Analysis, Larotrectinib Sulfate, Magnetic Resonance Imaging, Mutation Carrier Screening, Olaparib, Palbociclib, Pharmacological Study, Positron Emission Tomography, Radionuclide Imaging, Samotolisib, Selpercatinib, Selumetinib Sulfate, Tazemetostat, Tipifarnib, Ulixertinib, Vemurafenib, X-Ray Imaging
Procedure · Drug · Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
12 Months to 21 Years
Enrollment
1,377 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2027
U.S. locations
168
States / cities
Birmingham, Alabama • Anchorage, Alaska • Mesa, Arizona + 126 more
Source: ClinicalTrials.gov public record
Updated Jul 24, 2026 · Synced Oct 22, 2026, 8:47 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Overcoming Barriers to the Uptake of Cascade Screening for Lynch Syndrome: Workbook Feasibility Study

NCT04978350
View directory record Official record
Conditions
Lynch Syndrome
Interventions
Educational Workbook
Behavioral
Lead sponsor
UNC Lineberger Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2024
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 3, 2025 · Synced Oct 22, 2026, 8:47 AM EDT
Completed No phase listed Observational

VAlidation of a Lower Cost aneUploidy scrEen

NCT03087357
View directory record Official record
Conditions
Down Syndrome, Trisomy 18, Trisomy 13
Interventions
SmartNIPT
Other
Lead sponsor
Women and Infants Hospital of Rhode Island
Other
Eligibility
18 Years and older · Female only
Enrollment
2,443 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
13
States / cities
Los Angeles, California • Aurora, Colorado • Bridgeport, Connecticut + 9 more
Source: ClinicalTrials.gov public record
Updated Sep 22, 2022 · Synced Oct 22, 2026, 8:47 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Use of Videos to Improve Patient Knowledge on Prenatal Genetics

NCT03816423
View directory record Official record
Conditions
Aneuploidy, Birth Defect
Interventions
video
Other
Lead sponsor
University of South Florida
Other
Eligibility
18 Years and older · Female only
Enrollment
106 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2020
U.S. locations
1
States / cities
Tampa, Florida
Source: ClinicalTrials.gov public record
Updated May 19, 2020 · Synced Oct 22, 2026, 8:47 AM EDT
Completed Not applicable Interventional Results available

Increasing Documentation and Disclosure of Sickle Cell Trait Status: An Implementation Science Approach

NCT05387564
View directory record Official record
Conditions
Sickle Cell Trait
Interventions
SCT Documentation and Disclosure Toolkit (SCT-DD)
Behavioral
Lead sponsor
Nemours Children's Clinic
Other
Eligibility
Not listed
Enrollment
114 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024
U.S. locations
1
States / cities
Wilmington, Delaware
Source: ClinicalTrials.gov public record
Updated Jan 7, 2026 · Synced Oct 22, 2026, 8:47 AM EDT
Completed No phase listed Observational

Diagnostic and Screening Study of Genetic Disorders

NCT00006057
View directory record Official record
Conditions
Tay-Sachs Disease, Porphyria, Erythropoietic, Leukodystrophy, Globoid Cell, Metabolism, Inborn Errors
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 22, 2026, 8:47 AM EDT
Terminated Not applicable Interventional Results available

Low Cost QTc Meter for Long QT Syndrome Screening in Primary Care

NCT04441892
View directory record Official record
Conditions
Long QT Syndrome
Interventions
QTc Meter
Device
Lead sponsor
Mayo Clinic
Other
Eligibility
Up to 5 Years
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Jul 25, 2023 · Synced Oct 22, 2026, 8:47 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Sleep Apnea in Pregnancy Screening Study

NCT01585844
View directory record Official record
Conditions
Sleep Apnea, Obesity
Interventions
Not listed
Lead sponsor
MetroHealth Medical Center
Other
Eligibility
18 Years and older · Female only
Enrollment
182 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2008 – 2012
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Nov 14, 2023 · Synced Oct 22, 2026, 8:47 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

A Prospective Cohort Pilot Study of the Clinical and Molecular Epidemiology of Staphylococcus Aureus in Pregnant Women at the Time of Group B Streptococcal Screening in a Large Urban Medical Center in Chicago, IL USA

NCT00532324
View directory record Official record
Conditions
Staphylococcus Aureus
Interventions
CA-MRSA Decolonization
Other
Lead sponsor
Ann & Robert H Lurie Children's Hospital of Chicago
Other
Eligibility
Female only
Enrollment
107 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2008 – 2013
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Mar 28, 2025 · Synced Oct 22, 2026, 8:47 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Development of a Newborn Screening Assay for Angelman Syndrome and Prader-Willi Syndrome

NCT05783791
View directory record Official record
Conditions
Angelman Syndrome, Prader-Willi Syndrome
Interventions
Newborn Screening Assay
Diagnostic Test
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
Not listed
Enrollment
11 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023
U.S. locations
1
States / cities
Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated Sep 6, 2023 · Synced Oct 22, 2026, 8:47 AM EDT
Terminated No phase listed Observational

Screening for Lysosomal Acid Lipase Deficiency

NCT02926872
View directory record Official record
Conditions
Lysosomal Acid Lipase Deficiency
Interventions
There is no intervention in the study
Other
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
2 Years to 16 Years
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
2
States / cities
Atlanta, Georgia • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 16, 2017 · Synced Oct 22, 2026, 8:47 AM EDT
Terminated No phase listed Observational

Cardiovascular Disease Screening

NCT00483951
View directory record Official record
Conditions
Congenital Heart Disease, Atherosclerosis, Myocardial Ischemia, Myocardial Infarction, Acquired Heart Disease
Interventions
Toshiba Aquilion ONE CT, SWiemens MRI scanner
Device
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
18 Years and older
Enrollment
1,325 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2020
U.S. locations
2
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 29, 2021 · Synced Oct 22, 2026, 8:47 AM EDT
Completed No phase listed Observational

Screening To Obviate Preterm Birth

NCT01868308
View directory record Official record
Conditions
Preterm Labor, Preterm Contractions, Abdominal Cramping, Back Pain, Vaginal Pressure, Vaginal Bleeding
Interventions
Not listed
Lead sponsor
University of Pennsylvania
Other
Eligibility
Female only
Enrollment
589 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2015
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 30, 2017 · Synced Oct 22, 2026, 8:47 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Newborn Screening for Critical Congenital Heart Disease

NCT01765205
View directory record Official record
Conditions
Congenital Cardiovascular Malformation
Interventions
Pulse Oximetry using the INVOS (In Vivo Optical Spectroscopy) Cerebral/Somatic Oximeter
Device
Lead sponsor
University of Florida
Other
Eligibility
12 Hours to 2 Weeks
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2014
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Mar 14, 2014 · Synced Oct 22, 2026, 8:47 AM EDT
Completed No phase listed Observational Results available

Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®

NCT00937794
View directory record Official record
Conditions
Hunter Syndrome
Interventions
Neurobehavioral testing, Visual and auditory assessments
Behavioral · Other
Lead sponsor
Shire
Industry
Eligibility
32 Months to 18 Years · Male only
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 14, 2021 · Synced Oct 22, 2026, 8:47 AM EDT
Completed Not applicable Interventional

Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting

NCT01582841
View directory record Official record
Conditions
Colon Cancer, Lynch Syndrome
Interventions
MSI screening test
Procedure
Lead sponsor
Kaiser Permanente
Other
Eligibility
18 Years and older
Enrollment
247 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Aug 31, 2016 · Synced Oct 22, 2026, 8:47 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Universal Endometrial Cancer DNA Sequencing for Detection of Lynch Syndrome and Personalized Care

NCT03460483
View directory record Official record
Conditions
Endometrial Adenocarcinoma, Endometrial Carcinoma, Lynch Syndrome, Relatives
Interventions
Genetic Counseling, Genetic Testing, Laboratory Biomarker Analysis, Mutation Carrier Screening
Other · Procedure
Lead sponsor
Ohio State University Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Enrollment
1,001 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2025
U.S. locations
9
States / cities
Akron, Ohio • Canton, Ohio • Cincinnati, Ohio + 3 more
Source: ClinicalTrials.gov public record
Updated Oct 3, 2025 · Synced Oct 22, 2026, 8:47 AM EDT
Terminated Not applicable Interventional Results available

NEC Screening Abdominal Radiograph vs Bowel Ultrasound in Preemies

NCT03963011
View directory record Official record
Conditions
Enterocolitis, Necrotizing, Premature Infant
Interventions
Bowel Ultrasound
Diagnostic Test
Lead sponsor
Children's Mercy Hospital Kansas City
Other
Eligibility
Up to 28 Weeks
Enrollment
56 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Kansas City, Missouri
Source: ClinicalTrials.gov public record
Updated Jan 10, 2022 · Synced Oct 22, 2026, 8:47 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

The Early History of Universal Screening for Metabolic Disorders

NCT00309400
View directory record Official record
Conditions
Phenylketonuria, Galactosemia, Inborn Errors of Metabolism
Interventions
Not listed
Lead sponsor
University of Miami
Other
Eligibility
Not listed
Enrollment
10 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2006 – 2008
U.S. locations
1
States / cities
Miami, Florida
Source: ClinicalTrials.gov public record
Updated Aug 20, 2014 · Synced Oct 22, 2026, 8:47 AM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Screening for Alpha Thalassemia in Healthy Volunteers

NCT02692872
View directory record Official record
Conditions
Alpha Thalassemia
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years to 39 Years
Enrollment
367 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Apr 24, 2026 · Synced Oct 22, 2026, 8:47 AM EDT
Completed No phase listed Observational

Developing the Family Map: Looking at Communal Coping

NCT01633021
View directory record Official record
Conditions
Sickle Cell, Diabetes, Cancer, Cardiovascular Disease, Genetic Screening
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
1,061 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
3
States / cities
Bethesda, Maryland • Cincinnati, Ohio • Lewisburg, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 2, 2026 · Synced Oct 22, 2026, 8:47 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Blood Sampling for Research Related to Sickle Cell Disease

NCT00542230
View directory record Official record
Conditions
Sickle Cell Trait, Sickle Cell Disease, Sickle Cell Anemia
Interventions
Not listed
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIH
Eligibility
18 Years to 100 Years
Enrollment
250 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2007
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 22, 2026, 8:47 AM EDT
Completed Not applicable Interventional Results available

Genomic Sequencing for Childhood Risk and Newborn Illness

NCT02422511
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Apr 3, 2024 · Synced Oct 22, 2026, 8:47 AM EDT