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ClinicalTrials.gov public records Last synced Oct 23, 2026, 10:44 AM EDT

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Showing 961–984 of 8,007 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetics/Birth Defects Clear all
Recruiting Phase 4 Interventional Accepts healthy volunteers

Effects of Bisphosphonates on OI-Related Hearing Loss

NCT04152551
View directory record Official record
Conditions
Osteogenesis Imperfecta
Interventions
Risedronate Oral Tablet
Drug
Lead sponsor
Hospital for Special Surgery, New York
Other
Eligibility
6 Years to 100 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2027
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Apr 28, 2026 · Synced Oct 23, 2026, 10:44 AM EDT
Terminated Phase 1 Interventional Results available

Safety, Tolerability and Pharmacokinetics of Cobimetinib in Combination With Pictilisib in Patients With Locally Advanced or Metastatic Solid Tumors

NCT00996892
View directory record Official record
Conditions
Solid Tumors
Interventions
Cobimetinib, Pictilisib
Drug
Lead sponsor
Genentech, Inc.
Industry
Eligibility
18 Years and older
Enrollment
178 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2014
U.S. locations
6
States / cities
Baltimore, Maryland • Boston, Massachusetts • Detroit, Michigan + 2 more
Source: ClinicalTrials.gov public record
Updated Dec 30, 2016 · Synced Oct 23, 2026, 10:44 AM EDT
Completed No phase listed Observational

Inhibitor Development in Patients With Hemophilia A Undergoing Surgery

NCT01571934
View directory record Official record
Conditions
Hemophilia A
Interventions
Not listed
Lead sponsor
Emory University
Other
Eligibility
Male only
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2016
U.S. locations
7
States / cities
Aurora, Colorado • Atlanta, Georgia • Indianapolis, Indiana + 4 more
Source: ClinicalTrials.gov public record
Updated Apr 26, 2017 · Synced Oct 23, 2026, 10:44 AM EDT
Completed Phase 2 Interventional Results available

A Vehicle Controlled Study to Evaluate Safety and Efficacy of Topical TMB-001 for Treatment of Congenital Ichthyosis

NCT04154293
View directory record Official record
Conditions
Congenital Ichthyosis
Interventions
Isotretinoin, Vehicle
Drug · Other
Lead sponsor
LEO Pharma
Industry
Eligibility
9 Years and older
Enrollment
34 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
8
States / cities
Phoenix, Arizona • Palo Alto, California • New Haven, Connecticut + 5 more
Source: ClinicalTrials.gov public record
Updated May 22, 2026 · Synced Oct 23, 2026, 10:44 AM EDT
Completed No phase listed Observational

Surgical Treatment of Children With OSA and Small Tonsils or Down Syndrome

NCT05154214
View directory record Official record
Conditions
Obstructive Sleep Apnea of Child
Interventions
Adenotonsillectomy, Drug-induced sleep endoscopy directed surgery
Procedure
Lead sponsor
Oregon Health and Science University
Other
Eligibility
2 Years to 18 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Sep 29, 2025 · Synced Oct 23, 2026, 10:44 AM EDT
Active, not recruiting Phase 3 Interventional

Long-term Extension of GTX-102 in Angelman Syndrome

NCT06415344
View directory record Official record
Conditions
Angelman Syndrome
Interventions
GTX-102
Drug
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
Not listed
Enrollment
255 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2029
U.S. locations
6
States / cities
Los Angeles, California • San Diego, California • Atlanta, Georgia + 3 more
Source: ClinicalTrials.gov public record
Updated Sep 9, 2026 · Synced Oct 23, 2026, 10:44 AM EDT
Completed Not applicable Interventional Results available

Gerofit Exercise Intervention for Older Adults With Sickle Cell Disease (SICKLE-FIT Study)

NCT05714098
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Gerofit Exercise Program
Behavioral
Lead sponsor
Duke University
Other
Eligibility
40 Years and older
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 30, 2026 · Synced Oct 23, 2026, 10:44 AM EDT
Completed Phase 4 Interventional

Treatment of Hereditary Angioedema Prodrome with Recombinant C1-esterase Inhibitor (Ruconest)

NCT06690047
View directory record Official record
Conditions
Hereditary Angioedema
Interventions
Ruconest
Biological
Lead sponsor
Bernstein Clinical Research Center
Other
Eligibility
14 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2022
U.S. locations
2
States / cities
Birmingham, Alabama • Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Nov 15, 2024 · Synced Oct 23, 2026, 10:44 AM EDT
Completed Phase 2 Interventional Results available

Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas

NCT02129647
View directory record Official record
Conditions
Neurofibromatosis Type 2, Vestibular Schwannomas
Interventions
Axitinib
Drug
Lead sponsor
NYU Langone Health
Other
Eligibility
18 Years and older
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2019
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Dec 1, 2021 · Synced Oct 23, 2026, 10:44 AM EDT
Completed Phase 1 Interventional

Effect of DHA Supplements on Macular Function in Patients With Stargardt Macular Dystrophy and Stargardt-like Macular Dystrophy

NCT00060749
View directory record Official record
Conditions
Macular Degeneration
Interventions
Docosahexaenoic Acid (DHA) Dietary Supplement
Drug
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
Not listed
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2007
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 23, 2026, 10:44 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation

NCT03513328
View directory record Official record
Conditions
Bone Marrow Failure Syndrome, Thalassemia, Sickle Cell Disease, Diamond Blackfan Anemia, Acquired Neutropenia in Newborn, Acquired Anemia Hemolytic, Acquired Thrombocytopenia, Hemophagocytic Lymphohistiocytoses, Wiskott-Aldrich Syndrome, Chronic Granulomatous Disease, Common Variable Immunodeficiency, X-linked Lymphoproliferative Disease, Severe Combined Immunodeficiency, Hurler Syndrome, Mannosidosis, Adrenoleukodystrophy
Interventions
Thiotepa--single daily dose, Thiotepa--escalated dose
Drug
Lead sponsor
University of Florida
Other
Eligibility
3 Months to 39 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2023
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Sep 15, 2023 · Synced Oct 23, 2026, 10:44 AM EDT
Completed No phase listed Observational

Bacterial Gene Profiling to Predict Antibiotic Resistance During Cystic Fibrosis Pulmonary Exacerbations

NCT04341532
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Not listed
Lead sponsor
National Jewish Health
Other
Eligibility
18 Years and older
Enrollment
83 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
1
States / cities
Denver, Colorado
Source: ClinicalTrials.gov public record
Updated Apr 13, 2026 · Synced Oct 23, 2026, 10:44 AM EDT
Completed Phase 4 Interventional

Response of Children With Atopic Dermatitis (Eczema) to Eucrisa

NCT04023084
View directory record Official record
Conditions
Atopic Dermatitis, Eczema
Interventions
Crisaborole
Drug
Lead sponsor
Ann & Robert H Lurie Children's Hospital of Chicago
Other
Eligibility
4 Months to 17 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Jul 19, 2022 · Synced Oct 23, 2026, 10:44 AM EDT
Completed Phase 1 Interventional

Evaluation of Hydroxyurea Plus L-arginine or Sildenafil to Treat Sickle Cell Anemia

NCT00056433
View directory record Official record
Conditions
Sickle Cell Anemia
Interventions
Hydroxyurea, L-Arginine, Sildenafil
Drug
Lead sponsor
National Institutes of Health Clinical Center (CC)
NIH
Eligibility
16 Years and older
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2006
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Nov 22, 2019 · Synced Oct 23, 2026, 10:44 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

High Resolution Retinal Imaging

NCT01866371
View directory record Official record
Conditions
Stargardts, Retinitis Pigmentosa, Age-related Macular Degeneration, Choroideremia, Geographic Atrophy
Interventions
Retinal imaging
Procedure
Lead sponsor
University of Pennsylvania
Other
Eligibility
7 Years and older
Enrollment
600 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2031
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated May 5, 2026 · Synced Oct 23, 2026, 10:44 AM EDT
Completed Phase 4 Interventional Results available

A Study of the Comparable Efficacy and Safety of Pulmozyme (Dornase Alfa) Delivered by the eRapid Nebulizer System in Patients With Cystic Fibrosis

NCT01712334
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
dornase alfa [Pulmozyme®]
Drug
Lead sponsor
Genentech, Inc.
Industry
Eligibility
6 Years and older
Enrollment
99 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
16
States / cities
Phoenix, Arizona • Little Rock, Arkansas • Portland, Maine + 13 more
Source: ClinicalTrials.gov public record
Updated May 1, 2014 · Synced Oct 23, 2026, 10:44 AM EDT
Completed Not applicable Interventional

Standard vs. Biofilm Susceptibility Testing in Cystic Fibrosis (CF)

NCT00153634
View directory record Official record
Conditions
Cystic Fibrosis, Chronic Bronchitis
Interventions
IV amikacin, PO azithromycin, IV ceftazidime, PO ciprofloxacin, IV meropenem, IV piperacillin-tazobactam, IV ticarcillin-clavulanate, IV tobramycin
Drug
Lead sponsor
Seattle Children's Hospital
Other
Eligibility
14 Years and older
Enrollment
75 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2007
U.S. locations
8
States / cities
Iowa City, Iowa • St Louis, Missouri • Cincinnati, Ohio + 4 more
Source: ClinicalTrials.gov public record
Updated Mar 13, 2008 · Synced Oct 23, 2026, 10:44 AM EDT
Completed Phase 3 Interventional Results available

Safety and Pharmacokinetic Study of Lumacaftor/Ivacaftor in Subjects Aged 2 Through 5 Years With Cystic Fibrosis, Homozygous for F508del

NCT02797132
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
LUM/IVA
Drug
Lead sponsor
Vertex Pharmaceuticals Incorporated
Industry
Eligibility
2 Years to 5 Years
Enrollment
62 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
17
States / cities
Palo Alto, California • Aurora, Colorado • Chicago, Illinois + 14 more
Source: ClinicalTrials.gov public record
Updated Oct 30, 2018 · Synced Oct 23, 2026, 10:44 AM EDT
Completed Phase 2 Interventional Accepts healthy volunteers

Topical Application to Relieve Gout: Efficacy Trial & Safety (TARGETS)

NCT04130204
View directory record Official record
Conditions
Gout
Interventions
DYV700, Placebo, Colchicine 0.6 mg
Drug
Lead sponsor
Dyve Biosciences, Inc.
Industry
Eligibility
18 Years to 75 Years
Enrollment
284 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2021
U.S. locations
1
States / cities
Poway, California
Source: ClinicalTrials.gov public record
Updated May 13, 2022 · Synced Oct 23, 2026, 10:44 AM EDT
Completed Phase 1 Interventional Results available

Durability of Hypertonic Saline for Enhancing Mucociliary Clearance in Cystic Fibrosis

NCT01094704
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
sodium chloride (7%)
Drug
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
18 Years and older
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2010
U.S. locations
2
States / cities
Baltimore, Maryland • Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Aug 21, 2012 · Synced Oct 23, 2026, 10:44 AM EDT
Completed Phase 3 Interventional Results available

Trientine Tetrahydrochloride (TETA 4HCL) for the Treatment of Wilson's Disease

NCT03539952
View directory record Official record
Conditions
Wilson Disease
Interventions
Penicillamine (D1-W12), TETA 4HCL (W12-60), Penicillamine (W12-W60), TETA 4HCL (60-<W108)
Drug
Lead sponsor
Orphalan
Industry
Eligibility
18 Years to 75 Years
Enrollment
77 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2022
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Jul 2, 2025 · Synced Oct 23, 2026, 10:44 AM EDT
Completed Phase 4 Interventional Results available

Aromatase Inhibitor Growth Study: Letrozole vs. Anastrozole

NCT02137538
View directory record Official record
Conditions
Short Stature
Interventions
Letrozole, Anastrozole
Drug
Lead sponsor
Stanford University
Other
Eligibility
10 Years to 17 Years · Male only
Enrollment
79 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2018
U.S. locations
1
States / cities
Palo Alto, California
Source: ClinicalTrials.gov public record
Updated Jul 15, 2021 · Synced Oct 23, 2026, 10:44 AM EDT
Recruiting No phase listed Observational

A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During Pregnancy and Breastfeeding

NCT05579548
View directory record Official record
Conditions
Phenylketonuria, Maternal
Interventions
Pegvaliase
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Female only
Enrollment
50 participants
Timeline
2022 – 2032
U.S. locations
1
States / cities
Wilmington, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 24, 2026 · Synced Oct 23, 2026, 10:44 AM EDT
Completed No phase listed Observational

Pain Management Protocol for Pediatric Sickle Cell Disease

NCT00386048
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Brief Cognitive-Behavioral Pain Management Training
Behavioral
Lead sponsor
University of South Carolina
Other
Eligibility
8 Years to 18 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2012
U.S. locations
1
States / cities
Columbia, South Carolina
Source: ClinicalTrials.gov public record
Updated Apr 28, 2021 · Synced Oct 23, 2026, 10:44 AM EDT