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ClinicalTrials.gov public records Last synced Sep 6, 2026, 10:16 AM EDT

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Showing 1–24 of 52 matching trials from the live ClinicalTrials.gov search.
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Filters: Intervention: Genetic characterization Clear all
Completed Phase 1 Interventional Results available

A Dose Escalation/Expansion Study of LDK378 in Patients With Tumors Characterized by Genetic Abnormalities in Anaplastic Lymphoma Kinase

NCT01283516
View directory record Official record
Conditions
Tumors Characterized by Genetic Abnormalities of ALK
Interventions
LDK378
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
304 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2016
U.S. locations
6
States / cities
Aurora, Colorado • Boston, Massachusetts • New York, New York + 3 more
Source: ClinicalTrials.gov public record
Updated Mar 14, 2019 · Synced Sep 6, 2026, 10:16 AM EDT
Recruiting No phase listed Observational

LCAT (Lecithin Cholesterol Acyl Transferase) Natural History Study

NCT06217588
View directory record Official record
Conditions
LCAT Deficiency
Interventions
Demographics, diagnosis type, genotype, lipid profile, renal function profile, treatment allocation, ophthalmology exam, country of residence.
Other
Lead sponsor
University of Pennsylvania
Other
Eligibility
Not listed
Enrollment
40 participants
Timeline
2022 – 2028
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated May 5, 2026 · Synced Sep 6, 2026, 10:16 AM EDT
Completed No phase listed Observational

Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders

NCT04399694
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jan 14, 2026 · Synced Sep 6, 2026, 10:16 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Naltrexone Effects on Alcohol Intake

NCT00254670
View directory record Official record
Conditions
Social Drinker
Interventions
Naltrexone
Drug
Lead sponsor
University of California, San Francisco
Other
Eligibility
21 Years and older
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2006
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated May 7, 2023 · Synced Sep 6, 2026, 10:16 AM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of DMD and BMD

NCT02972580
View directory record Official record
Conditions
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Interventions
Genetic characterization
Genetic
Lead sponsor
Nationwide Children's Hospital
Other
Eligibility
18 Years and older · Female only
Enrollment
250 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2030
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Aug 26, 2024 · Synced Sep 6, 2026, 10:16 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer

NCT00033137
View directory record Official record
Conditions
Kidney Neoplasms, Kidney Cancer, Pneumothorax, FLCN Protein, Human
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
2 Years and older
Enrollment
950 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2002
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 17, 2026 · Synced Sep 6, 2026, 10:16 AM EDT
Recruiting No phase listed Observational

Monogenic Kidney Stone - Genetic Testing

NCT03305835
View directory record Official record
Conditions
Rare Kidney Stone Diseases
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
Not listed
Enrollment
6,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2028
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 12, 2026 · Synced Sep 6, 2026, 10:16 AM EDT
Completed No phase listed Observational

Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies

NCT00006176
View directory record Official record
Conditions
Familial Dementia With Neuroserpin Inclusion Bodies, Nervous System Heredodegenerative Disorder
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
10 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2009
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Sep 6, 2026, 10:16 AM EDT
Terminated Not applicable Interventional Results available

Non-Invasive Characterization in Cardiac Sarcoidosis

NCT02017522
View directory record Official record
Conditions
Cardiac Sarcoidosis
Interventions
11C-PBR PET
Device
Lead sponsor
University of Michigan
Other
Eligibility
18 Years and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Jul 31, 2018 · Synced Sep 6, 2026, 10:16 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Registry for the Atopic Dermatitis Research Network

NCT01494142
View directory record Official record
Conditions
Atopic Dermatitis, Eczema Herpeticum
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
8 Months to 80 Years
Enrollment
3,387 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2018
U.S. locations
9
States / cities
Los Angeles, California • Denver, Colorado • Chicago, Illinois + 5 more
Source: ClinicalTrials.gov public record
Updated Sep 18, 2018 · Synced Sep 6, 2026, 10:16 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal Cancer

NCT00050752
View directory record Official record
Conditions
Renal Tumor Histology, Cutaneous Leiomyoma, Kidney Cancer
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
2 Years and older
Enrollment
1,130 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2003
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 30, 2026 · Synced Sep 6, 2026, 10:16 AM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Detailed Clinical, Biochemical and Genetic Characterization in Gonadotropin-releasing Hormone (GnRH) Deficiency Disorders

NCT01165619
View directory record Official record
Conditions
Idiopathic Hypogonadotropic Hypogonadism, Hypothalamic Amenorrhea
Interventions
Not listed
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years to 40 Years
Enrollment
50 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated May 23, 2011 · Synced Sep 6, 2026, 10:16 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Discovering New Genetic Markers in Adults and Children Who May Be At Risk for Hereditary Forms of Cancer

NCT03922893
View directory record Official record
Conditions
Cancer
Interventions
Family History Information, ORAGENE, Blood, Skin Biopsy
Other · Genetic
Lead sponsor
Memorial Sloan Kettering Cancer Center
Other
Eligibility
Not listed
Enrollment
1,500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2029
U.S. locations
7
States / cities
Basking Ridge, New Jersey • Middletown, New Jersey • Montvale, New Jersey + 4 more
Source: ClinicalTrials.gov public record
Updated Dec 14, 2025 · Synced Sep 6, 2026, 10:16 AM EDT
Recruiting Phase 1Phase 2 Interventional Accepts healthy volunteers

Spermatogonial Differentiation Via Testicular Organoid

NCT06841861
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Feb 23, 2025 · Synced Sep 6, 2026, 10:16 AM EDT
Terminated No phase listed Observational

Molecular-Genetic Mechanisms Associated With Chemotherapy-Induced Nerve Damage

NCT01293851
View directory record Official record
Conditions
Peripheral Neuropathic Pain, Neurotoxicity, Cancer
Interventions
Not listed
Lead sponsor
National Institute of Nursing Research (NINR)
NIH
Eligibility
18 Years and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2012
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 4, 2019 · Synced Sep 6, 2026, 10:16 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Oral Bacteria and Immune System Problems Involved in Gum Disease (Periodontitis)

NCT01568697
View directory record Official record
Conditions
Immunosuppression, Periodontal Disease, Healthy Subjects, Healthy Volunteer
Interventions
Not listed
Lead sponsor
National Institute of Dental and Craniofacial Research (NIDCR)
NIH
Eligibility
7 Years to 100 Years
Enrollment
700 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2012
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 31, 2026 · Synced Sep 6, 2026, 10:16 AM EDT
Not listed No phase listed Observational

Characterization of Human Cancers by Molecular Profiling of Patient Biospecimens

NCT02749838
View directory record Official record
Conditions
Cancer
Interventions
Not listed
Lead sponsor
Pharmatech
Industry
Eligibility
18 Years and older
Enrollment
183 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2017
U.S. locations
1
States / cities
Denver, Colorado
Source: ClinicalTrials.gov public record
Updated Apr 24, 2016 · Synced Sep 6, 2026, 10:16 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Characterization of the Pathobiology of Early Lung Destruction in Alpha 1-Antitrypsin Deficient Individuals

NCT00001462
View directory record Official record
Conditions
Emphysema, Lung Diseases, Obstructive, Alpha 1-Antitrypsin Deficiency
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
Not listed
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1995 – 2000
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Sep 6, 2026, 10:16 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease

NCT00807482
View directory record Official record
Conditions
Kartagener Syndrome
Interventions
Not listed
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
Not listed
Enrollment
1,800 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2004 – 2027
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 28, 2026 · Synced Sep 6, 2026, 10:16 AM EDT
Not listed No phase listed Observational

Characterization of Receptors in Non-functioning Pituitary Macroadenomas

NCT00852501
View directory record Official record
Conditions
Pituitary Tumor
Interventions
To perform RT-PCR on the tissue obtained during surgery
Other
Lead sponsor
Cook County Health
Government
Eligibility
18 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2013
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Apr 8, 2013 · Synced Sep 6, 2026, 10:16 AM EDT
Completed No phase listed Observational

Study of Tissue Samples From Patients With Non-Small Cell Lung Cancer

NCT01414595
View directory record Official record
Conditions
Lung Cancer
Interventions
DNA analysis, DNA methylation analysis, RNA analysis, gene expression analysis, polymorphism analysis, laboratory biomarker analysis, medical chart review
Genetic · Other
Lead sponsor
Alliance for Clinical Trials in Oncology
Other
Eligibility
18 Years and older
Enrollment
248 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
11
States / cities
Los Angeles, California • Lewes, Delaware • Newark, Delaware + 7 more
Source: ClinicalTrials.gov public record
Updated Jun 26, 2017 · Synced Sep 6, 2026, 10:16 AM EDT
Completed No phase listed Observational

Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy

NCT00457912
View directory record Official record
Conditions
Limb-Girdle Muscular Dystrophy
Interventions
Not listed
Lead sponsor
Nationwide Children's Hospital
Other
Eligibility
Not listed
Enrollment
277 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2018
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Jan 24, 2018 · Synced Sep 6, 2026, 10:16 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Characterization of Diseases With Salivary Gland Involvement

NCT02327884
View directory record Official record
Conditions
Healthy Volunteer, Sjogren's Syndrome, Salivary Gland Disease
Interventions
Not listed
Lead sponsor
National Institute of Dental and Craniofacial Research (NIDCR)
NIH
Eligibility
4 Years to 100 Years
Enrollment
1,150 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2032
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 31, 2026 · Synced Sep 6, 2026, 10:16 AM EDT
Recruiting No phase listed Observational

Phenotype/Genotype Correlations in Movement Disorders

NCT00018889
View directory record Official record
Conditions
Movement Disorder
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
2 Years to 100 Years
Enrollment
2,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 31, 2026 · Synced Sep 6, 2026, 10:16 AM EDT