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Showing 1–24 of 207 matching trials from the live ClinicalTrials.gov search.
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Conditions
Age-related Macular Degeneration
Interventions
RetnaGene AMD LDT
Device
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
50 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
3
States / cities
San Francisco, California • Lexington, Kentucky • Nashville, Tennessee
Conditions
Leukemia, Lymphoma
Interventions
Not listed
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
18 Years and older
Enrollment
137 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2024
U.S. locations
1
States / cities
Memphis, Tennessee
Conditions
Genetic Disease, Inborn Errors of Metabolism, Glycogen Storage Disease, Lysosomal Storage Diseases, Storage Disease
Interventions
Not listed
Lead sponsor
Duke University
Other
Eligibility
Not listed
Enrollment
56 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
1
States / cities
Durham, North Carolina
Conditions
Dyskeratosis Congenita, Telomere Biology Disorders
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
53 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Breast Cancer Surgery
Interventions
Nipple Sparing Mastectomy (NSM), Skin-Sparing Mastectomy (SSM), Total (Simple) Mastectomy
Procedure
Lead sponsor
Sir Mortimer B. Davis - Jewish General Hospital
Other
Eligibility
18 Years to 90 Years · Female only
Enrollment
4,700 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
5
States / cities
New Haven, Connecticut • Boston, Massachusetts • New York, New York + 2 more
Conditions
Advanced Solid Tumor, Adult, ERBB2 Altered Breast Cancer, ERBB2 Gene Amplification, HER2 Overexpression, Non-Small Cell Lung Cancer, HER2
Interventions
CGT4255
Drug
Lead sponsor
Cogent Biosciences, Inc.
Industry
Eligibility
18 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
15
States / cities
Scottsdale, Arizona • New Haven, Connecticut • Jacksonville, Florida + 11 more
Completed No phase listed Observational Accepts healthy volunteers

Personalized Genomic Research

NCT01294345
Conditions
Genetics, Genetic Disease, Genetic Linkage, Birth Defects, Genetic Variation
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month and older
Enrollment
353 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2020
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Chronic Lung Disease
Interventions
gene variations
Genetic
Lead sponsor
Medical College of Wisconsin
Other
Eligibility
Not listed
Enrollment
1,100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2028
U.S. locations
1
States / cities
Milwaukee, Wisconsin
Conditions
Premature Birth
Interventions
Blood spot specimens will be drawn
Genetic
Lead sponsor
University of Miami
Other
Eligibility
1 Minute to 28 Days
Enrollment
258 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2008 – 2009
U.S. locations
2
States / cities
Fort Lauderdale, Florida
Conditions
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Interventions
VX-407
Drug
Lead sponsor
Vertex Pharmaceuticals Incorporated
Industry
Eligibility
18 Years to 65 Years
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
26
States / cities
Alabaster, Alabama • Birmingham, Alabama • Los Angeles, California + 21 more
Not yet recruiting Phase 1Phase 2 Interventional

Gene Therapy Trial for CLN6 Batten Disease

NCT07582484
Conditions
CLN6, Batten Disease, Batten's Disease, Neuronal Ceroid Lipofuscinosis CLN6, Neuronal Ceroid Lipofuscinosis
Interventions
scAAV9.CB.CLN6 (dose: 1.5E14 vector genomes)
Drug
Lead sponsor
The Charlotte and Gwenyth Gray Foundation
Other
Eligibility
4 Months and older
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
La Jolla, California
Conditions
Depression
Interventions
Escitalopram
Drug
Lead sponsor
Indiana University
Other
Eligibility
18 Years to 60 Years
Enrollment
80 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2003 – 2007
U.S. locations
1
States / cities
Indianapolis, Indiana
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Assessing Obesity Related Risk Factors in Adult Population: A Genetic and Behavioral Study

NCT07341841
Conditions
Obesity Prevention
Interventions
Diet and exercise, Lifestyle Intervention, Exercise
Behavioral
Lead sponsor
Augusta University
Other
Eligibility
18 Years to 70 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026
U.S. locations
1
States / cities
Augusta, Georgia
Recruiting Not applicable Interventional

Neurologic Stem Cell Treatment Study

NCT02795052
Conditions
Neurologic Disorders, Nervous System Diseases, Neurodegenerative Diseases, Neurological Disorders, Stroke, Traumatic Brain Injury, Cadasil, Chronic Traumatic Encephalopathy, Cerebral Infarction, Cerebral Ischemia, Cerebral Stroke, Cerebral Hemorrhage, Parkinson, Multi-System Degeneration, MSA - Multiple System Atrophy, Progressive Supranuclear Palsy, ALS, Amyotrophic Lateral Sclerosis, Neuropathy, Diabetic Neuropathies, Alzheimer Disease, Dementia, Frontotemporal Dementia, Lewy Body Disease, Cognitive Impairment, Lewy Body Variant of Alzheimer Disease
Interventions
Intravenous and Intranasal BMSC
Procedure
Lead sponsor
MD Stem Cells
Industry
Eligibility
18 Years and older
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2028
U.S. locations
2
States / cities
Westport, Connecticut • Coral Springs, Florida
Not listed No phase listed Observational Accepts healthy volunteers

Refining Information Technology Support for Genetics in Medicine

NCT01225978
Conditions
Hypertrophic Cardiomyopathy, Hearing Loss, Cancer
Interventions
GeneInsight Clinic (GIC)
Device
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
Not listed
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2014
U.S. locations
8
States / cities
Boston, Massachusetts • Ann Arbor, Michigan
Recruiting No phase listed Observational Accepts healthy volunteers

Natural History of Bronchiectasis

NCT00943514
Conditions
Bronchiectasis, Cystic Fibrosis, Autoimmune Disease, Common Variable Immunodeficiency
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
5 Years to 100 Years
Enrollment
900 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2009
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder), ACTL6B, ADNP, AHDC1, ANK2, ANKRD11, ARID1B, ASH1L, BCL11A, CHAMP1, CHD2, CHD8, CSNK2A1, CTBP1, CTNNB1 Gene Mutation, CUL3, DDX3X, DNMT3A, DSCAM, DYRK1A, FOXP1, GRIN2A, GRIN2B, HIVEP2-Related Intellectual Disability, HNRNPH2, KATNAL2, KDM5B, KDM6B, KMT2C Gene Mutation, KMT2E, KMT5B, MBD5, MED13L, PACS1, PPP2R5D-Related Intellectual Disability, PTCHD1, REST, SCN2A Encephalopathy, SETBP1 Gene Mutation, SETD5, SMARCA4 Gene Mutation, SMARCC2, STXBP1 Encephalopathy With Epilepsy, SYNGAP1-Related Intellectual Disability, TBR1, ARHGEF9, HNRNPU, PPP3CA, PPP2R1A, SLC6A1, 2p16.3 Deletions, 5q35 Deletions, 5q35 Duplications, 7q11.23 Duplications, 15Q13.3 Deletion Syndrome, 16p11.2 Triplications, 16P12.2 Microdeletion, 16P13.11 Microdeletion Syndrome (Disorder), 17Q12 Microdeletion Syndrome (Disorder), 17Q12 Duplication Syndrome, 17Q21.31 Deletion Syndrome, 17q21.3 Duplications, ACTB, ADSL, AFF2, ALDH5A1, ANK3, ARX, ATRX Gene Mutation, AUTS2 Syndrome, BCKDK, BRSK2, CACNA1C, CAPRIN1, CASK, CASZ1, CHD3, CIC, CNOT3, CREBBP Gene Mutation, CSDE1, CTCF, DEAF1, DHCR7, DLG4, EBF3, EHMT1, EP300 Gene Mutation, GIGYF1, GRIN1, GRIN2D, IQSEC2-Related Syndromic Intellectual Disability, IRF2BPL, KANSL1, KCNB1, KDM3B, NEXMIF, KMT2A, MBOAT7, MEIS2, MYT1L, NAA15, NBEA, NCKAP1, NIPBL, NLGN2, NLGN3, NLGN4X, NR4A2, NRXN1, NRXN2, NSD1 Gene Mutation, PHF21A, PHF3, PHIP, PSMD12, RELN, RERE, RFX3, RIMS1, RORB, SCN1A, SETD2 Gene Mutation, SHANK2, SIN3A, SLC9A6, SON, SOX5, SPAST, SRCAP, TAOK1, TANC2, TCF20, TLK2, TRIO, TRIP12, UPF3B, USP9X, VPS13B, WAC, WDFY3, ZBTB20, ZNF292, ZNF462, 2Q37 Deletion Syndrome, 9q34 Duplications, 15q15 Deletions, 15Q24 Deletion, NR3C2, SYNCRIP, 2q37.3 Deletion, 6q16 Deletion, 15q11.2 BP1-BP2 Deletion, 16p13.3 Deletion, 17Q11.2 Microduplication Syndrome (Disorder), 17p13.3, Xq28 Duplication, CLCN4, CSNK2B, DYNC1H1, EIF3F, GNB1, MED13, MEF2C, RALGAPB, SCN1B, YY1, Xp11.22 Duplication, PACS2, MAOA, MAOB, HNRNPC, HNRNPD, HNRNPK, HNRNPR, HNRNPUL2, 5P Deletion Syndrome, TCF7L2 Gene Mutation, HECW2, PPM1D, RNU4-2, SNAP25, FOXP2, ITSN1
Interventions
Not listed
Lead sponsor
Simons Searchlight
Other
Eligibility
Not listed
Enrollment
100,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2050
U.S. locations
2
States / cities
Boston, Massachusetts • Lewisburg, Pennsylvania
Recruiting No phase listed Observational Accepts healthy volunteers

UIC Multi-Ethnic DCM Registry

NCT07145138
Conditions
Heart Failure, Dilated Cardiomyopathy (DCM)
Interventions
Not listed
Lead sponsor
University of Illinois at Chicago
Other
Eligibility
18 Years and older
Enrollment
1,500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2038
U.S. locations
1
States / cities
Chicago, Illinois
Conditions
Freeman-Burian Syndrome, Freeman-Sheldon Syndrome, Whistling Face Syndrome, Sheldon-Hall Syndrome, Freeman-Sheldon Syndrome Variant, Arthrogryposis Distal Type 1, Arthrogryposis Distal Type 3, Gordon Syndrome
Interventions
Guided Health History for Freeman-Burian Syndrome Questionnaire, Freeman-Burian syndrome Semi-Structured Quality of Life Interview, Medical Records Review, PTSD Checklist for DSM-5, Modified Flanagan Quality of Life Scale, Center for Epidemiologic Studies Depression Scale, Review of Systems, FACE-Q | Craniofacial - Appearance of the Face, FACE-Q | Craniofacial - Appearance Distress, FACE-Q | Craniofacial - Facial Function
Other
Lead sponsor
Dufresne, Craig, MD, PC
Other
Eligibility
Not listed
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
1
States / cities
Fairfax, Virginia
Completed No phase listed Observational Accepts healthy volunteers

Impact of Elastin Mediated Vascular Stiffness on End Organs

NCT02840448
Conditions
Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
3 Years to 85 Years
Enrollment
159 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2024
U.S. locations
2
States / cities
Bethesda, Maryland • St Louis, Missouri
Recruiting No phase listed Observational Accepts healthy volunteers

Defining the Brain Phenotype of Children With Williams Syndrome

NCT01132885
Conditions
Williams Syndrome, Duplication
Interventions
Not listed
Lead sponsor
National Institute of Mental Health (NIMH)
NIH
Eligibility
5 Years and older
Enrollment
415 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2011
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Asthma
Interventions
Montelukast
Drug
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years to 65 Years
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2006
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Age Related Macular Degeneration
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
55 Years and older
Enrollment
196 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Klinefelter Syndrome
Interventions
Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution, Placebo injectable saline
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
31 Days to 90 Days · Male only
Enrollment
72 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
1
States / cities
Aurora, Colorado