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Showing 1–23 of 23 matching trials from the live ClinicalTrials.gov search.
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Filters: Intervention: Phenotype/genotype assessment Clear all
Completed Phase 2 Interventional

Safety and Effectiveness of Lamivudine When Given Once a Day Versus Twice a Day in Combination With Other Anti-HIV Drugs in HIV-Infected Adults Who Have Never Received Anti-HIV Drugs

NCT00004852
View directory record Official record
Conditions
HIV Infections
Interventions
Efavirenz, Lamivudine, Zidovudine
Drug
Lead sponsor
Glaxo Wellcome
Industry
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
46
States / cities
Phoenix, Arizona • Beverly Hills, California • Los Angeles, California + 32 more
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 18, 2026, 6:14 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Chromosome 18 Clinical Research Center

NCT00227253
View directory record Official record
Conditions
Chromosome Aberrations, Growth Hormone Deficiency, Hypomyelination
Interventions
Determination of growth hormone status, Measurement of growth, thyroid and sex hormone levels, Behavior and neuropsychometric evaluations, Audiological and ear, nose and throat examination, Magnetic resonance imaging of the brain, Dysmorphology evaluation, Neurology examination, Dental evaluation, Speech pathology evaluation, Psychiatric evaluation, Orthopedic evaluation, Ophthalmologic evaluation, Gastrointestinal evaluation
Procedure
Lead sponsor
The University of Texas Health Science Center at San Antonio
Other
Eligibility
Not listed
Enrollment
4,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1993 – 2040
U.S. locations
2
States / cities
San Antonio, Texas
Source: ClinicalTrials.gov public record
Updated Jan 5, 2026 · Synced Sep 18, 2026, 6:14 PM EDT
Active, not recruiting No phase listed Observational

Multicenter Phenotype-Genotype Analysis of Vascular Stains to Optimize Treatment Utilizing Optical Coherence Tomography

NCT04772911
View directory record Official record
Conditions
Vascular Stains
Interventions
Optical Coherence Tomography (OCT)
Device
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
Not listed
Enrollment
73 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
2
States / cities
Irvine, California • Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated May 13, 2026 · Synced Sep 18, 2026, 6:14 PM EDT
Completed No phase listed Observational

Study of Tests to Evaluate Effectiveness of Anti-HIV Drugs

NCT00006494
View directory record Official record
Conditions
HIV Infection
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years and older
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2011
U.S. locations
2
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Sep 18, 2026, 6:14 PM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

GARM II: A Study on the Genetics of Age-related Maculopathy

NCT01115387
View directory record Official record
Conditions
Age-related Macular Degeneration, Age-related Maculopathy
Interventions
Observational-1, Observational-2
Other
Lead sponsor
University of California, Los Angeles
Other
Eligibility
49 Years and older
Enrollment
603 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2027
U.S. locations
2
States / cities
Los Angeles, California • Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Nov 6, 2023 · Synced Sep 18, 2026, 6:14 PM EDT
Completed No phase listed Observational

A Study of HIV in Newly Infected Individuals

NCT00000930
View directory record Official record
Conditions
HIV Infections
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 2008
U.S. locations
12
States / cities
Los Angeles, California • San Francisco, California • Denver, Colorado + 8 more
Source: ClinicalTrials.gov public record
Updated Nov 6, 2016 · Synced Sep 18, 2026, 6:14 PM EDT
Completed No phase listed Observational

Heart and Skeletal Muscle Problems in Neuroacanthocytosis

NCT00007228
View directory record Official record
Conditions
Choreatic Disorder
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
Not listed
Enrollment
120 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2003
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Sep 18, 2026, 6:14 PM EDT
Completed Not applicable Interventional Results available

Short Term Effects of Ivacaftor in Non-G551D Cystic Fibrosis Patients

NCT01784419
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
ivacaftor, Placebo
Drug
Lead sponsor
University of California, San Francisco
Other
Eligibility
6 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2015
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Sep 28, 2020 · Synced Sep 18, 2026, 6:14 PM EDT
Active, not recruiting No phase listed Observational

Natural History Study of Cutaneous Neurofibromas in People With NF1

NCT05581511
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Oct 13, 2025 · Synced Sep 18, 2026, 6:14 PM 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 Sep 17, 2026 · Synced Sep 18, 2026, 6:14 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Rapid Screening Phenotype Test To Evaluate CYP 2C19 Enzyme Activity Using Stable Isotope [13C]Pantoprazole

NCT00668902
View directory record Official record
Conditions
Healthy
Interventions
[13C]Pantoprazole
Drug
Lead sponsor
Indiana University
Other
Eligibility
18 Years to 49 Years
Enrollment
25 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2007 – 2009
U.S. locations
1
States / cities
Indianapolis, Indiana
Source: ClinicalTrials.gov public record
Updated Dec 16, 2014 · Synced Sep 18, 2026, 6:14 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD

NCT02834650
View directory record Official record
Conditions
Muscular Dystrophy, Duchenne
Interventions
Cardiac MRI with contrast, Cardiac MRI without contrast, Blood Test, Heart Rate, Pulmonary Function Test, Genetic Testing, Repeat MRI scan
Other
Lead sponsor
Stanford University
Other
Eligibility
7 Years to 21 Years · Male only
Enrollment
89 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2022
U.S. locations
3
States / cities
Los Angeles, California • Orange, California • Stanford, California
Source: ClinicalTrials.gov public record
Updated May 9, 2022 · Synced Sep 18, 2026, 6:14 PM EDT
Recruiting No phase listed Observational

Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene

NCT01145196
View directory record Official record
Conditions
Genotype, Retinal Disease
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
18 Years to 120 Years
Enrollment
320 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2010
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 15, 2026 · Synced Sep 18, 2026, 6:14 PM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Cleidocranial Dysplasia (CCD): From Genotype to Phenotype and Considerations for Care

NCT05368064
View directory record Official record
Conditions
Cleidocranial Dysostosis
Interventions
observational
Other
Lead sponsor
Johns Hopkins University
Other
Eligibility
Not listed
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2028
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 21, 2025 · Synced Sep 18, 2026, 6:14 PM EDT
Withdrawn No phase listed Observational

A Study of the Natural Course of SURF1 Deficiency

NCT05277363
View directory record Official record
Conditions
Leigh Syndrome
Interventions
None (Observational study)
Other
Lead sponsor
Taysha Gene Therapies, Inc.
Industry
Eligibility
Up to 18 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated May 19, 2022 · Synced Sep 18, 2026, 6:14 PM EDT
Completed No phase listed Observational

A Noninvasive Test for Fetal RHD Genotype

NCT00871195
View directory record Official record
Conditions
Rhesus D Genotype
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
520 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2012
U.S. locations
10
States / cities
Phoenix, Arizona • Detroit, Michigan • New York, New York + 6 more
Source: ClinicalTrials.gov public record
Updated May 9, 2012 · Synced Sep 18, 2026, 6:14 PM EDT
Completed Phase 3 Interventional

A Phase III Randomized Double-Blind, Multicenter Study to Evaluate the Safety and Efficacy of 3TC/ZDV/1592U89 and 3TC/ZDV/IDV in HIV-1 Infected Antiretroviral Therapy-Naive Subjects.

NCT00002199
View directory record Official record
Conditions
HIV Infections
Interventions
Indinavir sulfate, Lamivudine/Zidovudine, Abacavir sulfate
Drug
Lead sponsor
Glaxo Wellcome
Industry
Eligibility
16 Years and older
Enrollment
550 participants
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 18, 2026, 6:14 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers Results available

A Study to Evaluate the Effect of Genotype on LY2216684

NCT01460381
View directory record Official record
Conditions
Depressive Disorder, Major
Interventions
LY2216684, Quinidine
Drug
Lead sponsor
Eli Lilly and Company
Industry
Eligibility
18 Years to 65 Years
Enrollment
18 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2012
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Oct 25, 2018 · Synced Sep 18, 2026, 6:14 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Dystonia Genotype-Phenotype Correlation

NCT03428009
View directory record Official record
Conditions
Dystonia, Dystonia; Idiopathic, Dystonia, Primary, Dystonia, Secondary, Dystonia, Familial, Dystonia Disorder, Dystonias, Sporadic, Dystonia; Orofacial, Dystonia Lenticularis, Dystonia, Paroxysmal, Dystonia 6, Dystonia 5, Dystonia 8, Dystonia 9, Dystonia 19, Dystonia 10, Dystonia 11, Dystonia 20, Dystonia 12, Dystonia, Focal, Dystonia of Head, Dystonia, Diurnal
Interventions
Magnetic Resonance Imaging
Other
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
11 Years and older
Enrollment
200 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2027
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Jun 5, 2025 · Synced Sep 18, 2026, 6:14 PM EDT
Completed Phase 1 Interventional

Enteric Oxalate Absorption Study in Unclassified Hyperoxaluria

NCT00588120
View directory record Official record
Conditions
Enteric Hyperoxaluria, Hyperoxaluria
Interventions
C-13 labeled oxalate
Drug
Lead sponsor
Mayo Clinic
Other
Eligibility
4 Years and older
Enrollment
114 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2020
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Mar 2, 2020 · Synced Sep 18, 2026, 6:14 PM EDT
Completed Phase 2 Interventional

Personalized Antiplatelet Secondary Stroke PRevenTion

NCT03979781
View directory record Official record
Conditions
Ischemic Stroke, TIA
Interventions
tailored antiplatelet selection, standard of care
Drug
Lead sponsor
State University of New York - Upstate Medical University
Other
Eligibility
18 Years to 100 Years
Enrollment
90 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2023
U.S. locations
1
States / cities
Syracuse, New York
Source: ClinicalTrials.gov public record
Updated Dec 14, 2023 · Synced Sep 18, 2026, 6:14 PM EDT
Suspended No phase listed Observational Accepts healthy volunteers

Urinary DENND1A.V2 as a Predictor of Pubertal Hyperandrogenemia

NCT02611128
View directory record Official record
Conditions
Polycystic Ovary Syndrome, Hyperandrogenism, Puberty
Interventions
Phenotype/genotype assessment
Other
Lead sponsor
University of Virginia
Other
Eligibility
8 Years to 17 Years · Female only
Enrollment
65 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2024
U.S. locations
1
States / cities
Charlottesville, Virginia
Source: ClinicalTrials.gov public record
Updated Nov 1, 2023 · Synced Sep 18, 2026, 6:14 PM EDT
Completed No phase listed Observational

Genotypes and Phenotypes in Pediatric SIRS and Sepsis

NCT02728401
View directory record Official record
Conditions
Systemic Inflammatory Response Syndrome (SIRS), Sepsis
Interventions
Not listed
Lead sponsor
Seattle Children's Hospital
Other
Eligibility
38 Weeks to 18 Years
Enrollment
104 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Apr 18, 2018 · Synced Sep 18, 2026, 6:14 PM EDT