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ClinicalTrials.gov public records Last synced Oct 22, 2026, 11:30 AM EDT

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Showing 649–672 of 8,007 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetics/Birth Defects Clear all
Completed Phase 3 Interventional Results available

A Study to Assess the Efficacy and Safety of Ruxolitinib Cream in Children With Atopic Dermatitis (TRuE-AD3)

NCT04921969
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
Ruxolitinib, Vehicle Cream
Drug
Lead sponsor
Incyte Corporation
Industry
Eligibility
2 Years to 11 Years
Enrollment
330 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
64
States / cities
Birmingham, Alabama • Hoover, Alabama • Gilbert, Arizona + 49 more
Source: ClinicalTrials.gov public record
Updated Mar 28, 2025 · Synced Oct 22, 2026, 11:30 AM EDT
Completed Not applicable Interventional Results available

TCUPS- Tolvaptan Use in Cystinuria and Urolithiasis: A Pilot Study

NCT02538016
View directory record Official record
Conditions
Cystinuria
Interventions
Tolvaptan
Drug
Lead sponsor
Caleb Nelson
Other
Eligibility
12 Years to 29 Years
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2018
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jul 10, 2020 · Synced Oct 22, 2026, 11:30 AM EDT
Enrolling by invitation Not applicable Interventional

Patient Centered Clinical Decision Support for Hereditary Cancer Syndromes

NCT06914726
View directory record Official record
Conditions
Hereditary Breast/Ovarian Cancer (brca1, brca2), Lynch Syndrome, Genetic Variation, HBOC Syndrome, Hereditary Cancer Syndromes
Interventions
Patient Centered Clinical Decision Support (PC-CDS)
Other
Lead sponsor
HealthPartners Institute
Other
Eligibility
18 Years and older
Enrollment
2,488 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2029
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jul 10, 2026 · Synced Oct 22, 2026, 11:30 AM EDT
Completed Phase 3 Interventional Results available

Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease

NCT02194985
View directory record Official record
Conditions
Fabry Disease
Interventions
migalastat HCl 150 mg
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
84 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
7
States / cities
Atlanta, Georgia • Kansas City, Kansas • Grand Rapids, Michigan + 4 more
Source: ClinicalTrials.gov public record
Updated Dec 21, 2020 · Synced Oct 22, 2026, 11:30 AM EDT
Enrolling by invitation No phase listed Observational

Long-term Follow-up of Subjects with Sickle Cell Disease Treated with Ex Vivo Gene Therapy

NCT04628585
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Safety and efficacy assessments
Other
Lead sponsor
Genetix Biotherapeutics Inc.
Industry
Eligibility
2 Years to 53 Years
Enrollment
85 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2038
U.S. locations
15
States / cities
Birmingham, Alabama • Oakland, California • Atlanta, Georgia + 12 more
Source: ClinicalTrials.gov public record
Updated Mar 20, 2025 · Synced Oct 22, 2026, 11:30 AM EDT
Active, not recruiting No phase listed Observational

Natural History of Spinocerebellar Ataxia Type 7 (SCA7)

NCT02741440
View directory record Official record
Conditions
Spinocerebellar Ataxia
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
12 Years to 100 Years
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2028
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 15, 2026 · Synced Oct 22, 2026, 11:30 AM EDT
Recruiting Phase 1Phase 2 Interventional

A Study Assessing HMB-002 in Participants With Von Willebrand Disease

NCT06754852
View directory record Official record
Conditions
Von Willebrand Disease (VWD), Von Willebrand Disease (VWD), Type 1, Von Willebrand Disease (VWD), Type 2, Von Willebrand Disease (VWD), Type 3
Interventions
HMB-002 (Part A), HMB-002 (Part B), HMB-002 with Concomitant Factor Concentrate (Part C) (Not Applicable in US)
Drug
Lead sponsor
Hemab ApS
Industry
Eligibility
16 Years to 69 Years
Enrollment
108 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
13
States / cities
Phoenix, Arizona • Little Rock, Arkansas • Los Angeles, California + 10 more
Source: ClinicalTrials.gov public record
Updated Jun 30, 2026 · Synced Oct 22, 2026, 11:30 AM EDT
Active, not recruiting Phase 2 Interventional

Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)

NCT06912633
View directory record Official record
Conditions
Retinitis Pigmentosa
Interventions
human retinal progenitor cells, Mock injection
Biological · Other
Lead sponsor
jCyte, Inc
Industry
Eligibility
18 Years to 60 Years
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
12
States / cities
Phoenix, Arizona • Bakersfield, California • Beverly Hills, California + 9 more
Source: ClinicalTrials.gov public record
Updated Jul 30, 2026 · Synced Oct 22, 2026, 11:30 AM EDT
Active, not recruiting Phase 2Phase 3 Interventional

CAMPSIITE™ RGX-121 Gene Therapy in Subjects With MPS II (Hunter Syndrome)

NCT03566043
View directory record Official record
Conditions
Mucopolysaccharidosis Type II (MPS II)
Interventions
RGX-121
Genetic
Lead sponsor
REGENXBIO Inc.
Industry
Eligibility
4 Months to 5 Years · Male only
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2025
U.S. locations
4
States / cities
Oakland, California • New Brunswick, New Jersey • Philadelphia, Pennsylvania + 1 more
Source: ClinicalTrials.gov public record
Updated Jan 28, 2025 · Synced Oct 22, 2026, 11:30 AM EDT
Terminated No phase listed Observational

Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation Pregnancies

NCT02226315
View directory record Official record
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Turner Syndrome
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
1
States / cities
Denver, Colorado
Source: ClinicalTrials.gov public record
Updated Sep 17, 2015 · Synced Oct 22, 2026, 11:30 AM EDT
Completed Phase 1 Interventional

Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01)

NCT01521793
View directory record Official record
Conditions
LCA (Leber Congenital Amaurosis), RP (Retinitis Pigmentosa)
Interventions
QLT091001
Drug
Lead sponsor
QLT Inc.
Industry
Eligibility
5 Years to 65 Years
Enrollment
27 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2014
U.S. locations
2
States / cities
Chicago, Illinois • Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 28, 2014 · Synced Oct 22, 2026, 11:30 AM EDT
Terminated Phase 2 Interventional Results available

Safety and Efficacy of NBI-98854 in Pediatric Subjects With Tourette Syndrome

NCT03530293
View directory record Official record
Conditions
Tourette Syndrome
Interventions
Valbenazine, Placebo oral capsule
Drug
Lead sponsor
Neurocrine Biosciences
Industry
Eligibility
6 Years to 17 Years
Enrollment
81 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
48
States / cities
Sun City, Arizona • Little Rock, Arkansas • Rogers, Arkansas + 43 more
Source: ClinicalTrials.gov public record
Updated May 17, 2022 · Synced Oct 22, 2026, 11:30 AM EDT
Recruiting Not applicable Interventional

EHR Intervention to Increase HBOC Genetic Testing

NCT07876349
View directory record Official record
Conditions
Breast Cancer, Ovarian Cancer, Hereditary Cancer Syndrome
Interventions
ELISABETH Evidence-Informed Program (EIP)
Behavioral
Lead sponsor
Columbia University
Other
Eligibility
21 Years to 75 Years · Female only
Enrollment
55 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Oct 15, 2026 · Synced Oct 22, 2026, 11:30 AM EDT
Completed Phase 1 Interventional

Study of Human Central Nervous System (CNS) Stem Cells Transplantation in Pelizaeus-Merzbacher Disease (PMD) Subjects

NCT01005004
View directory record Official record
Conditions
Pelizaeus-Merzbacher Disease
Interventions
HuCNS-SC cells
Biological
Lead sponsor
StemCells, Inc.
Industry
Eligibility
6 Months to 5 Years · Male only
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2012
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Jan 15, 2015 · Synced Oct 22, 2026, 11:30 AM EDT
Completed Phase 2 Interventional Results available

High Dose Vitamin D for Sickle Cell Disease

NCT01331148
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Vitamin D, Placebo
Drug · Other
Lead sponsor
Wake Forest University Health Sciences
Other
Eligibility
7 Years to 21 Years
Enrollment
46 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2013
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Aug 9, 2022 · Synced Oct 22, 2026, 11:30 AM EDT
Active, not recruiting Phase 2 Interventional

MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis

NCT02171104
View directory record Official record
Conditions
Mucopolysaccharidosis Disorders, Hurler Syndrome, Hunter Syndrome, Maroteaux Lamy Syndrome, Sly Syndrome, Alpha-Mannosidosis, Fucosidosis, Aspartylglucosaminuria, Glycoprotein Metabolic Disorders, Sphingolipidoses, Recessive Leukodystrophies, Globoid Cell Leukodystrophy, Metachromatic Leukodystrophy, Niemann-Pick B, Niemann-Pick C Subtype 2, Sphingomyelin Deficiency, Peroxisomal Disorders, Adrenoleukodystrophy With Cerebral Involvement, Zellweger Syndrome, Neonatal Adrenoleukodystrophy, Infantile Refsum Disease, Acyl-CoA Oxidase Deficiency, D-Bifunctional Enzyme Deficiency, Multifunctional Enzyme Deficiency, Alpha-methylacyl-CoA Racmase Deficiency, Mitochondrial Neurogastrointestingal Encephalopathy, Severe Osteopetrosis, Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation), Inherited Metabolic Disorders
Interventions
Stem Cell Transplantation, IMD Preparative Regimen, Osteopetrosis Only Preparative Regimen, Osteopetrosis Haploidentical Only Preparative Regimen, cALD SR-A (Standard-Risk, Regimen A), cALD SR-B (Standard-Risk, Regimen B), cALD HR-D (High-Risk, Regimen C), cALD HR-D (High-Risk, Regimen D)
Biological · Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 55 Years
Enrollment
149 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2029
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jan 7, 2026 · Synced Oct 22, 2026, 11:30 AM EDT
Withdrawn Phase 4 Interventional

Study Evaluating Inhibitor Specificity in Hemophilia A

NCT00151385
View directory record Official record
Conditions
Hemophilia A
Interventions
single blood draw
Procedure
Lead sponsor
Wyeth is now a wholly owned subsidiary of Pfizer
Industry
Eligibility
Not listed
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2007
U.S. locations
7
States / cities
Atlanta, Georgia • Detroit, Michigan • New Hyde Park, New York + 4 more
Source: ClinicalTrials.gov public record
Updated Jun 28, 2012 · Synced Oct 22, 2026, 11:30 AM EDT
Completed Phase 2 Interventional Results available

Allogeneic Mixed Chimerism Stem Cell Transplant Using Campath for Hemoglobinopathies & Bone Marrow Failure Syndromes

NCT00004143
View directory record Official record
Conditions
Sickle Cell Anemia, Severe Aplastic Anemia, Paroxysmal Nocturnal Hemoglobinuria (PNH), Pure Red Cell Aplasia
Interventions
Campath, Chemo and/or TBI Allo SCT
Drug
Lead sponsor
David Rizzieri, MD
Other
Eligibility
18 Years and older
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2009
U.S. locations
2
States / cities
Orlando, Florida • Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Dec 5, 2014 · Synced Oct 22, 2026, 11:30 AM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Study of Metabolic Effects of Pregnancy in Women With Cystic Fibrosis

NCT00014768
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
glucose, insulin, leucine
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older · Female only
Enrollment
36 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2001
U.S. locations
1
States / cities
Salt Lake City, Utah
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 22, 2026, 11:30 AM EDT
Completed Phase 2 Interventional Results available

Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria

NCT02180412
View directory record Official record
Conditions
Acute Porphyrias
Interventions
Panhematin, Glucose
Biological · Other
Lead sponsor
The University of Texas Medical Branch, Galveston
Other
Eligibility
18 Years to 100 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2022
U.S. locations
1
States / cities
Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Apr 11, 2025 · Synced Oct 22, 2026, 11:30 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Dried Plums Prevent Inflammation And Improve Bone Health in Osteopenic Men

NCT03408119
View directory record Official record
Conditions
Osteoporosis, Osteopenia
Interventions
Dried Plum, 800 IU vitamin D and 450mg elemental calcium
Dietary Supplement
Lead sponsor
Florida State University
Other
Eligibility
50 Years to 80 Years · Male only
Enrollment
62 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2022
U.S. locations
1
States / cities
Tallahassee, Florida
Source: ClinicalTrials.gov public record
Updated Oct 7, 2022 · Synced Oct 22, 2026, 11:30 AM EDT
Completed No phase listed Observational Accepts healthy volunteers Results available

Rod Sensitivity in Age-related Macular Degeneration (AMD) and Retinitis Pigmentosa (RP)

NCT03322930
View directory record Official record
Conditions
Retinitis Pigmentosa, AMD
Interventions
Rod sensitivity
Diagnostic Test
Lead sponsor
Retina Foundation of the Southwest
Other
Eligibility
10 Years to 85 Years
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2019
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Dec 23, 2019 · Synced Oct 22, 2026, 11:30 AM EDT
Recruiting No phase listed Observational

Cognitive and Neurological Pathologies in Pompe Disease

NCT04639336
View directory record Official record
Conditions
Pompe Disease
Interventions
Not listed
Lead sponsor
Duke University
Other
Eligibility
0 Years to 18 Years
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2029
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 4, 2026 · Synced Oct 22, 2026, 11:30 AM EDT
Recruiting Phase 2 Interventional

Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT

NCT01962415
View directory record Official record
Conditions
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias, Inflammatory Conditions, Systemic Juvenile Idiopathic Arthritis (sJIA), Juvenile Rheumatoid Arthritis (JRA)
Interventions
Hydroxyurea, Alemtuzumab, Fludarabine, Melphalan, Thiotepa
Drug
Lead sponsor
Paul Szabolcs
Other
Eligibility
2 Months to 55 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2027
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 15, 2025 · Synced Oct 22, 2026, 11:30 AM EDT