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ClinicalTrials.gov public records Last synced Sep 6, 2026, 2:18 PM EDT

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Showing 1–24 of 167 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Neonatal Screening Clear all
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 13, 2021 · Synced Sep 6, 2026, 2:18 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Fabry Screening Study

NCT01019629
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
Baylor Research Institute
Other
Eligibility
18 Years and older
Enrollment
2,724 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2017
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Feb 12, 2018 · Synced Sep 6, 2026, 2:18 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Implementing a Novel Consent Process for Biospecimen Research After Newborn Screening

NCT06192511
View directory record Official record
Conditions
Implementation Science, Informed Consent, Neonatal Screening
Interventions
Educational Website and Video
Behavioral
Lead sponsor
Erin Rothwell
Other
Eligibility
18 Years and older
Enrollment
5,980 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2028
U.S. locations
2
States / cities
Salt Lake City, Utah
Source: ClinicalTrials.gov public record
Updated Jul 30, 2026 · Synced Sep 6, 2026, 2:18 PM EDT
Terminated No phase listed Observational

Defining Normal Citrulline Levels as a Diagnostic Tool for Screening of Gastrointestinal Disease in Premature Infants

NCT01062828
View directory record Official record
Conditions
Premature Newborn, Necrotizing Enterocolitis
Interventions
Citrulline samples
Diagnostic Test
Lead sponsor
University of Miami
Other
Eligibility
Not listed
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2017
U.S. locations
1
States / cities
Miami, Florida
Source: ClinicalTrials.gov public record
Updated Aug 27, 2017 · Synced Sep 6, 2026, 2:18 PM EDT
Completed Not applicable Interventional

Health Literacy - Neurocognitive Screening in Pediatric SCD

NCT04917783
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Passport Card, No Passport card
Behavioral
Lead sponsor
Medical College of Wisconsin
Other
Eligibility
6 Years to 17 Years
Enrollment
46 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
2
States / cities
Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Apr 4, 2022 · Synced Sep 6, 2026, 2:18 PM 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 Aug 30, 2026 · Synced Sep 6, 2026, 2:18 PM EDT
Completed Not applicable Interventional

Oral Glucose Tolerance Testing Using Candy for Cystic Fibrosis

NCT04579939
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Candy Glucose Tolerance Test
Diagnostic Test
Lead sponsor
Mayo Clinic
Other
Eligibility
10 Years to 21 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Jan 19, 2022 · Synced Sep 6, 2026, 2:18 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Sickle Cell Disease, Hemechip

NCT03948516
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Not listed
Lead sponsor
University Hospitals Cleveland Medical Center
Other
Eligibility
6 Weeks to 60 Months
Enrollment
738 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2018
U.S. locations
4
States / cities
Omaha, Nebraska • Chapel Hill, North Carolina • Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Aug 20, 2025 · Synced Sep 6, 2026, 2:18 PM 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 6, 2026 · Synced Sep 6, 2026, 2:18 PM EDT
Completed No phase listed Observational

Non-Invasive Screening for Fetal Aneuploidy

NCT00847990
View directory record Official record
Conditions
Down Syndrome, Edwards Syndrome
Interventions
Maternal blood screening test for fetal aneuploidy
Other
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
5,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
25
States / cities
Mesa, Arizona • Phoenix, Arizona • Tucson, Arizona + 18 more
Source: ClinicalTrials.gov public record
Updated Sep 4, 2011 · Synced Sep 6, 2026, 2:18 PM EDT
Recruiting No phase listed Observational

Artificial Intelligence Guided Echocardiographic Screening of Rare Diseases (EchoNet-Screening)

NCT05139797
View directory record Official record
Conditions
Cardiac Amyloidosis
Interventions
EchoNet-LVH screening for cardiac amyloidosis
Other
Lead sponsor
Cedars-Sinai Medical Center
Other
Eligibility
18 Years and older
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Jul 21, 2026 · Synced Sep 6, 2026, 2:18 PM EDT
Recruiting Not applicable Interventional

Amnioinfusion's Protective Effects on Respiratory and Longitudinal Pediatric Outcomes After Intrapartum Thick Meconium Exposure

NCT07274527
View directory record Official record
Conditions
Neonatal Respiratory Distress Related Conditions, Meconium, Perinatal Morbidity, Neonatal Acidosis, Cord Blood, Neonatal Brain Injury, Maternal Morbidity, Mechanical Ventilation, CPAP, Surfactant, Perinatal Death, Amnioinfusion, NICU Admission
Interventions
Intrauterine pressure catheter, Standard obstetric care at discretion of delivery provider
Device · Other
Lead sponsor
Medical College of Wisconsin
Other
Eligibility
18 Years and older
Enrollment
320 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2030
U.S. locations
1
States / cities
Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated May 18, 2026 · Synced Sep 6, 2026, 2:18 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Amino Acid and Acylcarnitine Profiles in Premature Neonates

NCT00865150
View directory record Official record
Conditions
Prematurity, Neonatal Screening, Parenteral Nutrition
Interventions
Not listed
Lead sponsor
Pediatrix
Other
Eligibility
23 Weeks to 31 Weeks
Enrollment
1,003 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2012
U.S. locations
2
States / cities
South Bend, Indiana • Florence, South Carolina
Source: ClinicalTrials.gov public record
Updated Feb 29, 2012 · Synced Sep 6, 2026, 2:18 PM EDT
Completed No phase listed Observational

Study of Clinical and Molecular Manifestations of Genetic Disorders

NCT00001466
View directory record Official record
Conditions
Hereditary Diseases
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
1,200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1994 – 2000
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Sep 6, 2026, 2:18 PM EDT
Recruiting No phase listed Observational

Prostate Cancer Genetic Risk Evaluation and Screening Study

NCT05129605
View directory record Official record
Conditions
Prostatic Neoplasm, Prostate Cancer, BRCA2 Mutation, BRCA1 Mutation, ATM Gene Mutation, MMR Mutation, Lynch Syndrome, Genetic Predisposition to Disease
Interventions
Prostate cancer screening
Diagnostic Test
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
35 Years to 74 Years · Male only
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2040
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 8, 2024 · Synced Sep 6, 2026, 2:18 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Specifying Interventions From the Sickle Cell Disease Implementation Consortium (SCDIC)

NCT03380351
View directory record Official record
Conditions
Anemia, Sickle Cell
Interventions
SCDIC interventions
Behavioral
Lead sponsor
Washington University School of Medicine
Other
Eligibility
18 Years and older
Enrollment
17 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2024
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated May 7, 2024 · Synced Sep 6, 2026, 2:18 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Dilated Cardiomyopathy Detection Using AI and Screening With Mobile Technology (DCM-DETECT)

NCT06688396
View directory record Official record
Conditions
Dilated Cardiomyopathy, Heart Failure, Heart Disease
Interventions
Mobile 6L AI-EKG Screening
Device
Lead sponsor
Lancaster General Hospital
Other
Eligibility
18 Years and older
Enrollment
150 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2026
U.S. locations
1
States / cities
Lancaster, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 29, 2025 · Synced Sep 6, 2026, 2:18 PM EDT
Recruiting No phase listed Observational

Specimen Collection from Pregnant Women At Increased Risk for Fetal Aneuploidy

NCT01429389
View directory record Official record
Conditions
Down Syndrome, Fetal Aneuploidy
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
2,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2026
U.S. locations
12
States / cities
Birmingham, Alabama • Los Angeles, California • San Diego, California + 6 more
Source: ClinicalTrials.gov public record
Updated Oct 15, 2024 · Synced Sep 6, 2026, 2:18 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Evaluation of Patients With Immune Function Abnormalities

NCT00128973
View directory record Official record
Conditions
Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID), Leukocyte Adhesion Deficiency 1 (LAD), Graft Versus Host Disease (cGvHD)
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
Not listed
Enrollment
3,500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2005
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 31, 2026 · Synced Sep 6, 2026, 2:18 PM 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 30, 2016 · Synced Sep 6, 2026, 2:18 PM EDT
Active, not recruiting No phase listed Observational

Developing a Management Approach for Patients With "Late-Onset" Pompe Disease

NCT03694561
View directory record Official record
Conditions
Pompe Disease, Pompe Disease (Late-onset), GAA Deficiency
Interventions
Observational
Other
Lead sponsor
Duke University
Other
Eligibility
3 Months to 54 Months
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2027
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Sep 2, 2026 · Synced Sep 6, 2026, 2:18 PM EDT
Enrolling by invitation Not applicable Interventional

Penn Family Screening for Familial Hypercholesterolemia

NCT05750667
View directory record Official record
Conditions
Familial Hypercholesterolemia
Interventions
Cascade screening
Behavioral
Lead sponsor
Northwestern University
Other
Eligibility
18 Years and older
Enrollment
800 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 8, 2026 · Synced Sep 6, 2026, 2:18 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing

NCT06306521
View directory record Official record
Conditions
Genetic Disease
Interventions
BeginNGS Test
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
1 Day to 28 Days
Enrollment
10,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2029
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Mar 11, 2024 · Synced Sep 6, 2026, 2:18 PM EDT
Withdrawn Not applicable Interventional Accepts healthy volunteers

Surveying Parents About Genome Screening of Newborns

NCT01736501
View directory record Official record
Conditions
Parents of Healthy Newborns
Interventions
Genetics education at baseline, Hypothetical genomic scenarios at follow-up
Other
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
Not listed
Healthy volunteers
Accepts healthy volunteers
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 11, 2025 · Synced Sep 6, 2026, 2:18 PM EDT