Independent directory Public ClinicalTrials.gov records United States
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ClinicalTrials.gov public records Last synced Oct 8, 2026, 10:22 AM EDT

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Showing 49–72 of 193 matching trials from the live ClinicalTrials.gov search.
Conditions
Coronary Artery Disease, Proteus Syndrome, Coffin - Sins Syndrome, Familial Isolated Hyperparathyroidism, Dubouitz Syndrome
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 65 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
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
Strabismus, Nystagmus, Congenital
Interventions
whole genome sequencing or whole exome sequencing
Genetic
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Completed Not applicable Interventional Accepts healthy volunteers Results available

North Carolina Newborn Exome Sequencing for Universal Screening

NCT02826694
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
Lynch Syndrome, Colorectal Cancer
Interventions
LS tumor screening, Genetic testing, Genetic Counseling, Biorepository, Questionnaire
Genetic · Behavioral · Other
Lead sponsor
Ohio State University Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Enrollment
3,470 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2018
U.S. locations
49
States / cities
Akron, Ohio • Barberton, Ohio • Batavia, Ohio + 29 more
Conditions
Hereditary Spastic Paraplegia, Neurodegenerative Diseases, Pediatric Disorder, Spasticity, Muscle, Motor Neuron Disease, Movement Disorders
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
1 Month to 30 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
Boston, Massachusetts
Active, not recruiting No phase listed Observational

Neuroblastoma Precision Trial

NCT02868268
Conditions
Neuroblastoma
Interventions
Gene panel sequencing of tumor specimens
Other
Lead sponsor
New Approaches to Neuroblastoma Therapy Consortium
Other
Eligibility
1 Year to 30 Years
Enrollment
93 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2026
U.S. locations
11
States / cities
Los Angeles, California • San Francisco, California • Aurora, Colorado + 8 more
Recruiting No phase listed Observational

Identifying Genetic Causes of IC/BPS

NCT00389142
Conditions
Interstitial Cystitis, Bladder Pain Syndrome
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
1 Year and older
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Recruiting Phase 1Phase 2 Interventional Accepts healthy volunteers

Spermatogonial Differentiation Via Testicular Organoid

NCT06841861
Conditions
Infertility, Male, Gene Abnormality, Sterility, Male
Interventions
Stem cell, Genetic Screening, Genetic Reprogramming, Cell Maturation
Genetic
Lead sponsor
CellARTs Inc.
Industry
Eligibility
18 Years to 60 Years · Male only
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2027
U.S. locations
1
States / cities
San Francisco, California
Conditions
Kidney Diseases
Interventions
Renasight
Diagnostic Test
Lead sponsor
Natera, Inc.
Industry
Eligibility
18 Years and older
Enrollment
1,720 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
31
States / cities
Anchorage, Alaska • Tucson, Arizona • Granada Hills, California + 23 more
Recruiting No phase listed Observational Accepts healthy volunteers

The CurePSP Genetics Program

NCT06647641
Conditions
PSP, PSP - Progressive Supranuclear Palsy, Corticobasal Syndrome, Corticobasal Syndrome(CBS), Corticobasal Degeneration Syndrome, Corticobasal Degeneration, Corticobasal Degeneration (CBD), Corticobasal Syndrome (CBS), MSA, MSA - Multiple System Atrophy, MSA-C, Multiple System Atrophy, Multiple System Atrophy (MSA) With Orthostatic Hypotension, Multiple System Atrophy - Cerebellar Subtype (MSA-C), Multiple System Atrophy - Parkinsonian Subtype (MSA-P), Multiple System Atrophy, Cerebellar Type, Multiple System Atrophy, Parkinsonian Type, Progressive Supranuclear Palsy, Progressive Supranuclear Palsy(PSP), Progressive Supranuclear Palsy (PSP)
Interventions
Whole genome sequencing will be performed at the NIH
Other
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
35 Years and older
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Active, not recruiting No phase listed Observational

VIGOR: Virtual Genome Center for Infant Health

NCT05205356
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
Still's Disease, Adult-Onset, Systemic Inflammation, Arthritis, Autoinflammatory Syndrome
Interventions
Not listed
Lead sponsor
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
NIH
Eligibility
1 Day to 100 Years
Enrollment
2,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2050
U.S. locations
1
States / cities
Bethesda, Maryland
Recruiting No phase listed Observational Accepts healthy volunteers

Role of Transposable Elements in Septic Immune Aging

NCT06809868
Conditions
Sepsis, Sepsis and Septic Shock, Sepsis With Multiple Organ Dysfunction (MOD), Sepsis With Acute Organ Dysfunction, Sepsis, Severe, Sepsis at Intensive Care Unit, Sepsis, Severe Sepsis and Septic Shock, Sepsis, Septic Shock
Interventions
RNA and DNA Sequencing
Genetic
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years and older
Enrollment
116 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2028
U.S. locations
1
States / cities
San Francisco, California
Completed Not applicable Interventional Accepts healthy volunteers Results available

Cancer Health Assessments Reaching Many

NCT03426878
Conditions
Hereditary Cancer Syndrome
Interventions
Modified genetic counseling, Traditional genetic counseling
Other
Lead sponsor
Kaiser Permanente
Other
Eligibility
18 Years to 49 Years
Enrollment
967 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2022
U.S. locations
2
States / cities
Denver, Colorado • Portland, Oregon
Conditions
Myotubular Myopathy
Interventions
Genetic Testing
Other
Lead sponsor
Cure CMD
Other
Eligibility
30 Days and older
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
1
States / cities
Torrance, California
Conditions
Sickle Cell Disease, Sickle Cell Anemia (HbSS, or HbSβ-thalassemia0), Beta-Thalassemia, Transfusion Dependent Beta-Thalassaemia
Interventions
autologous bone marrow derived CD34+ HSPCs electroporated with BCL11A enhancer targeting Cas9 ribonucleoprotein, Sequencing Assay for Variant rs114518452
Biological · Device
Lead sponsor
Daniel Bauer
Other
Eligibility
13 Years to 40 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Lung Neoplasms, Carcinoma Non-small-cell Lung, Adenocarcinoma
Interventions
Multifocal Lung Adenocarcinoma
Genetic
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2025
U.S. locations
1
States / cities
Rochester, Minnesota
Conditions
Head and Neck Cancer
Interventions
DNA Microarray analysis, MALDI-TOF mass spectrometry, DNA microarray and MALDI-TOF mass spectrometry
Genetic
Lead sponsor
Vanderbilt-Ingram Cancer Center
Other
Eligibility
Not listed
Enrollment
49 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2011
U.S. locations
3
States / cities
Nashville, Tennessee
Conditions
Neurofibromatosis Type 1, Neurofibromatosis 1, Neurofibromatosis (Nonmalignant), Cutaneous Neurofibroma
Interventions
Evaluation of the natural history of cutaneous neurofibromas
Other
Lead sponsor
Johns Hopkins University
Other
Eligibility
1 Year to 100 Years
Enrollment
500 participants
Timeline
2021 – 2029
U.S. locations
1
States / cities
Baltimore, Maryland
Conditions
Undiagnosed Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
2
States / cities
Baltimore, Maryland
Completed No phase listed Observational Results available

Alpha-1 Carrier Genomics Study

NCT02810327
Conditions
Alpha-1 Antitrypsin Deficiency, Emphysema, COPD, Smoking
Interventions
Genetic Sequencing
Genetic
Lead sponsor
Medical University of South Carolina
Other
Eligibility
18 Years and older
Enrollment
117 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
1
States / cities
Charleston, South Carolina
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
Recruiting No phase listed Observational Accepts healthy volunteers

Longitudinal Studies of Patient With FPDMM

NCT03854318
Conditions
Inherited Hematological Diseases, Rare Diseases, FPDMM
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Day to 100 Years
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2099
U.S. locations
1
States / cities
Bethesda, Maryland