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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Genetic Screening Clear all
Completed No phase listed Observational

Rare Genetic Disorders of the Breathing Airways

NCT00323167
View directory record Official record
Conditions
Kartagener Syndrome, Cystic Fibrosis, Pseudohypoaldosteronism, Primary Ciliary Dyskinesia
Interventions
Not listed
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
Not listed
Enrollment
367 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2012
U.S. locations
7
States / cities
Palo Alto, California • Denver, Colorado • Bethesda, Maryland + 3 more
Source: ClinicalTrials.gov public record
Updated Aug 9, 2022 · Synced Jul 22, 2026, 9:46 PM EDT
Terminated Phase 3 Interventional Results available

Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI

NCT02352753
View directory record Official record
Conditions
Osteogenesis Imperfecta
Interventions
Denosumab
Drug
Lead sponsor
Amgen
Industry
Eligibility
2 Years to 17 Years
Enrollment
153 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2022
U.S. locations
13
States / cities
Los Angeles, California • Torrance, California • Aurora, Colorado + 10 more
Source: ClinicalTrials.gov public record
Updated Dec 27, 2022 · Synced Jul 22, 2026, 9:46 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

General Population Level Estimation for Type 1 Diabetes Risk in Children During Routine Care Delivery

NCT04477928
View directory record Official record
Conditions
Type 1 Diabetes, Celiac Disease
Interventions
Sera and whole blood sampling, Differential Gene Expression (DGE)
Diagnostic Test
Lead sponsor
Sanford Health
Other
Eligibility
0 Minutes to 17 Years
Enrollment
33,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2031
U.S. locations
4
States / cities
Bemidji, Minnesota • Bismarck, North Dakota • Fargo, North Dakota + 1 more
Source: ClinicalTrials.gov public record
Updated Mar 1, 2026 · Synced Jul 22, 2026, 9:46 PM EDT
Completed No phase listed Observational

Pompe Gene Therapy- Screening for Eligibility

NCT03285126
View directory record Official record
Conditions
Pompe Disease (Late-onset)
Interventions
Not listed
Lead sponsor
Duke University
Other
Eligibility
18 Years and older
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 1, 2019 · Synced Jul 22, 2026, 9:46 PM EDT
Completed No phase listed Observational

Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome

NCT01961518
View directory record Official record
Conditions
Morquio Syndrome A, Maroteaux Lamy Syndrome, MPS IVA, MPS VI
Interventions
Not listed
Lead sponsor
Greenwood Genetic Center
Other
Eligibility
Up to 18 Years
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2015
U.S. locations
1
States / cities
Greenville, South Carolina
Source: ClinicalTrials.gov public record
Updated Aug 12, 2015 · Synced Jul 22, 2026, 9:46 PM EDT
Withdrawn No phase listed Observational

CA-125 in Screening Patients at High Risk for Ovarian Cancer

NCT00080639
View directory record Official record
Conditions
Ovarian Cancer
Interventions
physiologic testing, study of high risk factors
Other · Procedure
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
30 Years and older · Female only
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2007
U.S. locations
1
States / cities
Birmingham, Alabama
Source: ClinicalTrials.gov public record
Updated Aug 4, 2013 · Synced Jul 22, 2026, 9:46 PM EDT
Completed Not applicable Interventional Results available

Single Embryo TrAnsfeR of Euploid Embryo

NCT02268786
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated May 12, 2020 · Synced Jul 22, 2026, 9:46 PM EDT
Recruiting No phase listed Observational

Clinical and Genetic Studies in Familial Non-medullary Thyroid Cancer

NCT01109420
View directory record Official record
Conditions
Non-Medullary Thyroid Cancer
Interventions
Not listed
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIH
Eligibility
7 Years to 90 Years
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2010
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 15, 2026 · Synced Jul 22, 2026, 9:46 PM EDT
Completed No phase listed Observational

Evaluation of Patients With Known or Suspected Heart Disease

NCT00001313
View directory record Official record
Conditions
Peripheral Artery Disease, Coronary Disease, Diabetes and Heart Failure, Dilated Cardiomyopathy, Heart Failure, Renal Artery Stenosis, Pulmonary Hypertension
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
Not listed
Healthy volunteers
Healthy volunteers not accepted
Timeline
1992 – 2009
U.S. locations
2
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Jul 22, 2026, 9:46 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

A Program to Increase Sickle Cell Trait Knowledge Among Parent of Young Children Identified in Newborn Screening

NCT03984500
View directory record Official record
Conditions
Sickle Cell Trait
Interventions
Education
Other
Lead sponsor
Susan Creary
Other
Eligibility
18 Years and older
Enrollment
74 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2022
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Dec 20, 2022 · Synced Jul 22, 2026, 9:46 PM EDT
Completed No phase listed Observational

Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker

NCT00770458
View directory record Official record
Conditions
Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Turner Syndrome
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
7
States / cities
La Jolla, California • San Diego, California • San Jose, California + 4 more
Source: ClinicalTrials.gov public record
Updated Jan 5, 2010 · Synced Jul 22, 2026, 9:46 PM EDT
Enrolling by invitation Not applicable Interventional

AI Echocardiographic Screening of Cardiac Amyloidosis

NCT06664866
View directory record Official record
Conditions
Cardiac Amyloidosis
Interventions
EchoNet-LVH Assessment
Diagnostic Test
Lead sponsor
Cedars-Sinai Medical Center
Other
Eligibility
22 Years and older
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
4
States / cities
Los Angeles, California • Palo Alto, California • Chicago, Illinois + 1 more
Source: ClinicalTrials.gov public record
Updated Jul 21, 2026 · Synced Jul 22, 2026, 9:46 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 Jul 7, 2026 · Synced Jul 22, 2026, 9:46 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population

NCT01016106
View directory record Official record
Conditions
Atopic Dermatitis, Ichthyosis Vulgaris
Interventions
Buccal Swab
Genetic
Lead sponsor
Northwestern University
Other
Eligibility
6 Months and older
Enrollment
35 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2011
U.S. locations
2
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Apr 30, 2015 · Synced Jul 22, 2026, 9:46 PM EDT
Completed Not applicable Interventional Results available

Evaluating the Efficacy of Pediatric Lipid Screening Alerts

NCT04118348
View directory record Official record
Conditions
Hypercholesterolemia, Hypercholesterolemia, Familial, Hypercholesteremia in Children, Hyperlipidemia in Children
Interventions
Best Practice Alert, Health Maintenance Topic
Behavioral
Lead sponsor
Geisinger Clinic
Other
Eligibility
9 Years to 11 Years
Enrollment
13,340 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
1
States / cities
Danville, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Nov 6, 2023 · Synced Jul 22, 2026, 9:46 PM EDT
Withdrawn No phase listed Observational

Oncology Research Information Exchange Network in Improving Genetic Screening Rate in Patients With Cancer

NCT03348137
View directory record Official record
Conditions
Malignant Neoplasm
Interventions
Questionnaire Administration
Other
Lead sponsor
University of Southern California
Other
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2038
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Oct 23, 2019 · Synced Jul 22, 2026, 9:46 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 Jul 22, 2026, 9:46 PM EDT
Terminated No phase listed Observational

Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer

NCT00533572
View directory record Official record
Conditions
Epidermolysis Bullosa Dystrophica
Interventions
Not listed
Lead sponsor
Stanford University
Other
Eligibility
18 Years and older
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2008
U.S. locations
1
States / cities
Stanford, California
Source: ClinicalTrials.gov public record
Updated May 26, 2015 · Synced Jul 22, 2026, 9:46 PM 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 Jun 16, 2026 · Synced Jul 22, 2026, 9:46 PM EDT
Recruiting No phase listed Observational

Experience and Management of Cancer Screening-Related Anxiety in Fanconi Anemia

NCT06744283
View directory record Official record
Conditions
Fanconi Anemia
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 21, 2026 · Synced Jul 22, 2026, 9:46 PM EDT
Recruiting Not applicable Interventional

The ORIGIN-FH Study

NCT07470723
View directory record Official record
Conditions
Heterozygous Familial Hypercholesterolemia (HeFH), Homozygous Familial Hypercholesterolemia (HoFH), Familial Hypercholesterolemia
Interventions
Screening for FH
Diagnostic Test
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
18 Years and older
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2029
U.S. locations
1
States / cities
Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated Mar 12, 2026 · Synced Jul 22, 2026, 9:46 PM EDT
Not yet recruiting No phase listed Observational Accepts healthy volunteers

The RISC Registry--Risk Informed Screening Registry

NCT05848856
View directory record Official record
Conditions
Breast Cancer Risk, Cardiovascular Disease Risk, Cardiometabolic Risk, Diabetes
Interventions
Breast Cancer, Cardiometabolic, Cardiovascular Risk Screening and Follow up
Behavioral
Lead sponsor
Precision Health Equity Initiative
Other
Eligibility
18 Years to 100 Years · Female only
Enrollment
10,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2035
U.S. locations
1
States / cities
Palo Alto, California
Source: ClinicalTrials.gov public record
Updated Jul 10, 2024 · Synced Jul 22, 2026, 9:46 PM EDT
Terminated No phase listed Observational

Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project)

NCT02095015
View directory record Official record
Conditions
Mucopolysaccharidosis (MPS)
Interventions
Not listed
Lead sponsor
Shire
Industry
Eligibility
Up to 7 Years · Male only
Enrollment
159 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
7
States / cities
Los Angeles, California • Jacksonville, Florida • Minneapolis, Minnesota + 4 more
Source: ClinicalTrials.gov public record
Updated Mar 16, 2021 · Synced Jul 22, 2026, 9:46 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 Jul 22, 2026, 9:46 PM EDT