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Showing 1–24 of 7,823 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Genetic Disease, Inborn Clear all
Recruiting No phase listed Observational

Study of the Disease Process of Lymphangioleiomyomatosis

NCT00001465
View directory record Official record
Conditions
Lung Disease, Pneumothorax, Tuberous Sclerosis, Lymphangioleiomyomatosis
Interventions
Toshibia Aquilion One CT
Device
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
16 Years to 100 Years
Enrollment
2,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1995
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 23, 2026 · Synced Jul 23, 2026, 9:15 PM EDT
Recruiting No phase listed Observational

Validating Innovative Biosensors for Rett Autonomic Symptom Tracking

NCT06338267
View directory record Official record
Conditions
Rett Syndrome
Interventions
Not listed
Lead sponsor
Rett Syndrome Research Trust
Other
Eligibility
Not listed
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
3
States / cities
Chicago, Illinois • Boston, Massachusetts • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Dec 18, 2025 · Synced Jul 23, 2026, 9:15 PM EDT
Completed Not applicable Interventional

Study of Endothelial Keratoplasty Outcomes

NCT00800111
View directory record Official record
Conditions
Fuchs' Endothelial Corneal Dystrophy, Bullous Keratopathy, Iridocorneal Endothelial Syndrome, Posterior Polymorphous Dystrophy
Interventions
endothelial keratoplasty
Procedure
Lead sponsor
Cornea Research Foundation of America
Other
Eligibility
18 Years and older
Enrollment
2,593 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2018
U.S. locations
1
States / cities
Indianapolis, Indiana
Source: ClinicalTrials.gov public record
Updated Jan 22, 2019 · Synced Jul 23, 2026, 9:15 PM EDT
Completed No phase listed Observational

Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study)

NCT02156102
View directory record Official record
Conditions
Genetic Disease, Genomics
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 120 Years
Enrollment
405 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2024
U.S. locations
2
States / cities
Bethesda, Maryland • The Bronx, New York
Source: ClinicalTrials.gov public record
Updated Jul 16, 2026 · Synced Jul 23, 2026, 9:15 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Auditory EEG and Behavioral Assessments in Individuals With Rett Syndrome

NCT07569445
View directory record Official record
Conditions
Rett Syndrome
Interventions
Electroencephalogram (EEG) Recording
Procedure
Lead sponsor
University of Rochester
Other
Eligibility
2 Years and older
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2027
U.S. locations
1
States / cities
Rochester, New York
Source: ClinicalTrials.gov public record
Updated May 5, 2026 · Synced Jul 23, 2026, 9:15 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Parkinsonism in Spinocerebellar Ataxia Type 6

NCT01934998
View directory record Official record
Conditions
Spinocerebellar Ataxia Type 6
Interventions
Not listed
Lead sponsor
University of Chicago
Other
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2015
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Apr 27, 2015 · Synced Jul 23, 2026, 9:15 PM EDT
Terminated Not applicable Interventional Results available

Evoked Retinal Response

NCT01415453
View directory record Official record
Conditions
Retinitis Pigmentosa
Interventions
Ultrasound Stimulus
Procedure
Lead sponsor
Columbia University
Other
Eligibility
18 Years to 60 Years
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2012
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Apr 4, 2013 · Synced Jul 23, 2026, 9:15 PM EDT
Completed Phase 2 Interventional Results available

A Phase II Trial of Regadenoson in Sickle Cell Anemia

NCT01788631
View directory record Official record
Conditions
Sickle Cell Anemia
Interventions
Regadenoson, Placebo
Drug
Lead sponsor
Dana-Farber Cancer Institute
Other
Eligibility
10 Years to 70 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2016
U.S. locations
12
States / cities
Oakland, California • Chicago, Illinois • Baltimore, Maryland + 7 more
Source: ClinicalTrials.gov public record
Updated Feb 6, 2018 · Synced Jul 23, 2026, 9:15 PM EDT
Completed Phase 2 Interventional Results available

Vaccine Responses in Tralokinumab-Treated Atopic Dermatitis - ECZTRA 5 (ECZema TRAlokinumab Trial No. 5)

NCT03562377
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
Tralokinumab, Placebo, Tdap vaccine, Meningococcal vaccine
Drug · Biological
Lead sponsor
LEO Pharma
Industry
Eligibility
18 Years to 54 Years
Enrollment
215 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
39
States / cities
Fort Smith, Arkansas • Bakersfield, California • Beverly Hills, California + 33 more
Source: ClinicalTrials.gov public record
Updated Mar 10, 2025 · Synced Jul 23, 2026, 9:15 PM EDT
Completed Not applicable Interventional

A Novel Approach to Reducing Adiposity Among Young Men

NCT04267263
View directory record Official record
Conditions
Weight Loss, Men, Lifestyle Risk Reduction, Cardiovascular Diseases, Obesity
Interventions
Self-guided lifestyle intervention
Behavioral
Lead sponsor
Virginia Commonwealth University
Other
Eligibility
18 Years to 35 Years · Male only
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021
U.S. locations
1
States / cities
Richmond, Virginia
Source: ClinicalTrials.gov public record
Updated Jul 25, 2021 · Synced Jul 23, 2026, 9:15 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Clinical Assessment of Skin Tightening and Contour Change of Submental Tissue Using Bipolar Radiofrequency Microneedling

NCT04477187
View directory record Official record
Conditions
Skin Laxity
Interventions
Dermal Handpiece
Device
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
21 Years to 70 Years
Enrollment
15 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2022
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Dec 18, 2023 · Synced Jul 23, 2026, 9:15 PM EDT
Active, not recruiting No phase listed Observational

Pulmonary Vascular Disease in CF

NCT04549077
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Not listed
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
5 Years to 21 Years
Enrollment
86 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2026
U.S. locations
2
States / cities
Indianapolis, Indiana • Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jan 6, 2026 · Synced Jul 23, 2026, 9:15 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Proof-of-Concept Safety Study of CPP-109 (Vigabatrin) for Treatment Refractory Tourette's Disorder

NCT01585207
View directory record Official record
Conditions
Tourette's Disorder
Interventions
vigabatrin
Drug
Lead sponsor
Barbara J. Coffey
Other
Eligibility
18 Years to 35 Years
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jan 18, 2018 · Synced Jul 23, 2026, 9:15 PM EDT
Completed Phase 3 Interventional Results available

A Phase 3 Study of Tezacaftor (VX-661) in Combination With Ivacaftor (VX-770) in Subjects Aged 12 Years and Older With Cystic Fibrosis (CF), Who Have One F508del-CFTR Mutation and a Second Mutation That Has Been Demonstrated to be Clinically Responsive to Ivacaftor

NCT02412111
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Ivacaftor, Tezacaftor/Ivacaftor
Drug
Lead sponsor
Vertex Pharmaceuticals Incorporated
Industry
Eligibility
12 Years and older
Enrollment
156 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
33
States / cities
Birmingham, Alabama • Oakland, California • San Diego, California + 30 more
Source: ClinicalTrials.gov public record
Updated Jan 7, 2019 · Synced Jul 23, 2026, 9:15 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Social Support and Stress Reduction for Caregivers of Young Adults With IDD

NCT05938998
View directory record Official record
Conditions
Burden, Caregiver
Interventions
Yoga; Support Group
Behavioral
Lead sponsor
University of Kansas Medical Center
Other
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2024
U.S. locations
1
States / cities
Kansas City, Kansas
Source: ClinicalTrials.gov public record
Updated Sep 11, 2025 · Synced Jul 23, 2026, 9:15 PM EDT
Completed Phase 3 Interventional

Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses

NCT00672022
View directory record Official record
Conditions
GM2 Gangliosidoses, Tay-Sachs, Sandhoff Disease
Interventions
Zavesca (Miglustat)
Drug
Lead sponsor
Children's National Research Institute
Other
Eligibility
6 Months to 5 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2007
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated May 5, 2008 · Synced Jul 23, 2026, 9:15 PM EDT
Completed Phase 2 Interventional Results available

Trial to Evaluate Efficacy and Safety of Lenabasum in Cystic Fibrosis

NCT03451045
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Lenabasum 20 mg, Lenabasum 5 mg, Placebo
Drug · Other
Lead sponsor
Corbus Pharmaceuticals Inc.
Industry
Eligibility
12 Years and older
Enrollment
447 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
34
States / cities
Phoenix, Arizona • Little Rock, Arkansas • Long Beach, California + 30 more
Source: ClinicalTrials.gov public record
Updated Jan 17, 2023 · Synced Jul 23, 2026, 9:15 PM EDT
Completed Phase 2 Interventional Results available

DHA and X-Linked Retinitis Pigmentosa

NCT00100230
View directory record Official record
Conditions
Retinitis Pigmentosa, X-linked Genetic Diseases
Interventions
docosahexaenoic acid OR corn/soy oil placebo
Drug
Lead sponsor
Retina Foundation of the Southwest
Other
Eligibility
7 Years to 32 Years · Male only
Enrollment
78 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2014
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Mar 16, 2015 · Synced Jul 23, 2026, 9:15 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers Results available

Voxelotor CYP and Transporter Cocktail Interaction Study

NCT05981365
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Voxelotor, Bupropion, Repaglinide, Flurbiprofen, Omeprazole, Midazolam, Metformin, Furosemide, Rosuvastatin
Drug
Lead sponsor
Pfizer
Industry
Eligibility
18 Years to 55 Years
Enrollment
44 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023
U.S. locations
1
States / cities
San Antonio, Texas
Source: ClinicalTrials.gov public record
Updated Nov 21, 2024 · Synced Jul 23, 2026, 9:15 PM EDT
Completed Phase 1Phase 2 Interventional Results available

A Study of JR-171 in Patients With Mucopolysaccharidosis I

NCT04227600
View directory record Official record
Conditions
Mucopolysaccharidosis I
Interventions
JR-171 (lepunafusp alfa)
Drug
Lead sponsor
JCR Pharmaceuticals Co., Ltd.
Industry
Eligibility
0 Years and older
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
1
States / cities
Oakland, California
Source: ClinicalTrials.gov public record
Updated Mar 18, 2025 · Synced Jul 23, 2026, 9:15 PM EDT
Not yet recruiting Phase 1 Interventional

Study of Cabozantinib With Selumetinib for Plexiform Neurofibromas

NCT06502171
View directory record Official record
Conditions
Neurofibromatosis 1, Plexiform Neurofibroma
Interventions
Cabozantinib Oral Tablet, Selumetinib Oral Capsule
Drug
Lead sponsor
Girish Dhall, MD
Other
Eligibility
16 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2034
U.S. locations
1
States / cities
Birmingham, Alabama
Source: ClinicalTrials.gov public record
Updated Mar 11, 2026 · Synced Jul 23, 2026, 9:15 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Remote Exercise Study for Individuals With Down Syndrome

NCT04647851
View directory record Official record
Conditions
Down Syndrome
Interventions
Remote exercise intervention Down syndrome
Other
Lead sponsor
University of Nevada, Las Vegas
Other
Eligibility
18 Years to 35 Years
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2022
U.S. locations
1
States / cities
Las Vegas, Nevada
Source: ClinicalTrials.gov public record
Updated May 25, 2023 · Synced Jul 23, 2026, 9:15 PM EDT
Terminated Phase 2 Interventional Results available

Celecoxib for Thyroid Eye Disease

NCT02845336
View directory record Official record
Conditions
Thyroid Eye Disease
Interventions
Celecoxib, artificial tears
Drug
Lead sponsor
Johns Hopkins University
Other
Eligibility
18 Years and older
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 30, 2020 · Synced Jul 23, 2026, 9:15 PM EDT