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ClinicalTrials.gov public records Last synced Jul 22, 2026, 10:58 AM EDT

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Showing 1–24 of 9,314 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Filters: Condition: Genetic Disease Clear all
Terminated Phase 4 Interventional Results available

A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease

NCT01597596
View directory record Official record
Conditions
Pompe Disease (Infantile-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenosis 2, Acid Maltase Deficiency
Interventions
alglucosidase alfa
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Up to 12 Months
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2014
U.S. locations
14
States / cities
Little Rock, Arkansas • Oakland, California • Gainsville, Florida + 11 more
Source: ClinicalTrials.gov public record
Updated Jan 17, 2016 · Synced Jul 22, 2026, 10:58 AM EDT
No Longer Available No phase listed Expanded access

Extension Study of Drisapersen in DMD Subjects

NCT02636686
View directory record Official record
Conditions
Duchenne Muscular Dystrophy
Interventions
Drisapersen
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
5 Years to 80 Years · Male only
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 23, 2018 · Synced Jul 22, 2026, 10:58 AM EDT
Completed Phase 1 Interventional

Single Dose Pharmacokinetic (PK) Study

NCT03109756
View directory record Official record
Conditions
Angelman Syndrome, Fragile X Syndrome
Interventions
OV101
Drug
Lead sponsor
Healx AI
Industry
Eligibility
13 Years to 17 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017
U.S. locations
2
States / cities
Chicago, Illinois • Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Nov 29, 2017 · Synced Jul 22, 2026, 10:58 AM EDT
Not listed Phase 2 Interventional

Pulsatile GnRH in Anovulatory Infertility

NCT00383656
View directory record Official record
Conditions
Hypogonadotropic Hypogonadism, Amenorrhea, Kallmann's Syndrome
Interventions
GnRH, Pump
Drug · Device
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
16 Years to 45 Years · Female only
Enrollment
270 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1989 – 2020
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jul 11, 2017 · Synced Jul 22, 2026, 10:58 AM EDT
Completed Phase 1 Interventional

Study of Ruxolitinib Cream in Children With Atopic Dermatitis

NCT05034822
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
Ruxolitinib cream
Drug
Lead sponsor
Incyte Corporation
Industry
Eligibility
2 Years to 11 Years
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
15
States / cities
Gilbert, Arizona • Hot Springs, Arkansas • Anaheim, California + 12 more
Source: ClinicalTrials.gov public record
Updated Sep 14, 2023 · Synced Jul 22, 2026, 10:58 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Single Cell Genomics of Psoriatic Skin

NCT02929745
View directory record Official record
Conditions
Psoriasis
Interventions
Skin biopsy, Blood draw
Procedure
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years and older
Enrollment
16 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2020
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Sep 22, 2021 · Synced Jul 22, 2026, 10:58 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Discovering New Targets for Colorectal and Endometrial Cancer Risk Reduction

NCT06096688
View directory record Official record
Conditions
Colorectal Cancer, Endometrial Cancer, Hereditary Cancer Syndromes
Interventions
Not listed
Lead sponsor
Weill Medical College of Cornell University
Other
Eligibility
18 Years and older
Enrollment
1,120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2026
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Sep 3, 2025 · Synced Jul 22, 2026, 10:58 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Clinical Validation of the Role of microRNA Binding Site Mutations in Cancer Risk, Prevention and Treatment

NCT02253251
View directory record Official record
Conditions
Cancer
Interventions
KRAS-variant and microRNA binding site mutation testing
Genetic
Lead sponsor
MiraKind
Other
Eligibility
18 Years and older
Enrollment
15,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2035
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Jan 22, 2025 · Synced Jul 22, 2026, 10:58 AM EDT
Active, not recruiting Phase 1Phase 2 Interventional

A Phase 1/Phase 2 Open-label Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Administration of SAR444836 in Adult Participants With Phenylketonuria

NCT05972629
View directory record Official record
Conditions
Phenylketonuria
Interventions
SAR444836
Drug
Lead sponsor
Sanofi
Industry
Eligibility
18 Years to 65 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2030
U.S. locations
7
States / cities
San Francisco, California • Aurora, Colorado • Gainesville, Florida + 4 more
Source: ClinicalTrials.gov public record
Updated Sep 22, 2025 · Synced Jul 22, 2026, 10:58 AM EDT
Completed Not applicable Interventional Results available

Early Intervention in Cystic Fibrosis Exacerbation

NCT01104402
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Home lung function and symptom monitoring
Device
Lead sponsor
Johns Hopkins University
Other
Eligibility
14 Years and older
Enrollment
267 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2015
U.S. locations
3
States / cities
Baltimore, Maryland • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Oct 22, 2017 · Synced Jul 22, 2026, 10:58 AM EDT
Active, not recruiting Phase 1Phase 2 Interventional Results available

Non-myeloablative Haploidentical HCT Study for Patients With Sickle Cell Disease, Including Compromised Organ Function

NCT06145282
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Briquilimab, Filgrastim, Abatacept, Sirolimus, Cyclophosphamide
Biological · Drug
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
4 Years to 100 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Apr 28, 2026 · Synced Jul 22, 2026, 10:58 AM EDT
Completed Phase 4 Interventional Results available

Study of rFVIIIFc for Immune Tolerance Induction (ITI) in Haemophilia A Patients With Inhibitors Who Have Failed Previous ITI Therapies

NCT03103542
View directory record Official record
Conditions
Hemophilia A
Interventions
Recombinant coagulation factor (rFVIIIFc)
Biological
Lead sponsor
Swedish Orphan Biovitrum
Industry
Eligibility
Male only
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Sep 18, 2024 · Synced Jul 22, 2026, 10:58 AM EDT
Completed No phase listed Observational

Long Term Outcomes in β Thalassemia Major

NCT02307786
View directory record Official record
Conditions
Thalassemia Major
Interventions
Not listed
Lead sponsor
Ann & Robert H Lurie Children's Hospital of Chicago
Other
Eligibility
0 Years to 30 Years
Enrollment
176 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Feb 10, 2025 · Synced Jul 22, 2026, 10:58 AM EDT
Terminated Phase 2Phase 3 Interventional

Efficacy and Safety of REC-2282 in Patients With Progressive Neurofibromatosis Type 2 (NF2) Mutated Meningiomas

NCT05130866
View directory record Official record
Conditions
Neurofibromatosis Type 2
Interventions
REC-2282, Placebo
Drug
Lead sponsor
Recursion Pharmaceuticals Inc.
Industry
Eligibility
12 Years and older
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
14
States / cities
Los Angeles, California • Washington D.C., District of Columbia • Gainesville, Florida + 8 more
Source: ClinicalTrials.gov public record
Updated Oct 6, 2025 · Synced Jul 22, 2026, 10:58 AM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Genetic and Environmental Risk Factors for Hemorrhagic Stroke-GERFHS III

NCT00930280
View directory record Official record
Conditions
Stroke
Interventions
Not listed
Lead sponsor
University of Cincinnati
Other
Eligibility
18 Years and older
Enrollment
1,260 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2008 – 2025
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Aug 27, 2024 · Synced Jul 22, 2026, 10:58 AM EDT
Completed No phase listed Observational

Hemophilia Inhibitor Previously Untreated Patient Study

NCT01652027
View directory record Official record
Conditions
Hemophilia A
Interventions
FVIII concentrate
Drug
Lead sponsor
The University of Texas Health Science Center, Houston
Other
Eligibility
Not listed
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2020
U.S. locations
13
States / cities
Atlanta, Georgia • Indianapolis, Indiana • Lexington, Kentucky + 9 more
Source: ClinicalTrials.gov public record
Updated Nov 9, 2020 · Synced Jul 22, 2026, 10:58 AM EDT
Recruiting Phase 2 Interventional

A Study to Investigate the Clinical Effect and the Safety of PRX-115 Infused Intravenously at Different Dosing Regimens, With and Without Methotrexate, Versus Placebo in Adults Gout Patients (RELEASE)

NCT07280156
View directory record Official record
Conditions
Gout
Interventions
PRX-115, Methotrexate (MTX), PRX-115 placebo, Placebo-Methotrexate
Biological · Drug · Other
Lead sponsor
Protalix
Industry
Eligibility
18 Years and older
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
18
States / cities
Little Rock, Arkansas • El Cajon, California • Clearwater, Florida + 12 more
Source: ClinicalTrials.gov public record
Updated Jun 10, 2026 · Synced Jul 22, 2026, 10:58 AM EDT
Recruiting Phase 1 Interventional Accepts healthy volunteers

Genetic Basis of the Risk and Consequences of Cannabis Exposure in Humans

NCT06058702
View directory record Official record
Conditions
Schizophrenia, Cannabis Use Disorder
Interventions
Delta-9-THC Very Low Dose, Placebo, Delta-9-THC Medium Dose
Drug
Lead sponsor
Yale University
Other
Eligibility
21 Years to 60 Years
Enrollment
215 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2028
U.S. locations
1
States / cities
West Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Jul 16, 2026 · Synced Jul 22, 2026, 10:58 AM EDT
Completed Phase 1Phase 2 Interventional Results available

CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type I

NCT00661453
View directory record Official record
Conditions
Spinal Muscular Atrophy Type I
Interventions
Valproic Acid and Levocarnitine
Drug
Lead sponsor
University of Utah
Other
Eligibility
2 Weeks to 12 Months
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2012
U.S. locations
6
States / cities
Baltimore, Maryland • Detroit, Michigan • Durham, North Carolina + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 14, 2015 · Synced Jul 22, 2026, 10:58 AM EDT
Completed Phase 1Phase 2 Interventional Accepts healthy volunteers Results available

Inflammation, Polyphenols, and Genetics

NCT01568827
View directory record Official record
Conditions
Overweight, Obese
Interventions
Blackraspberry Slurry
Dietary Supplement
Lead sponsor
Ohio State University
Other
Eligibility
55 Years and older · Male only
Enrollment
10 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Sep 26, 2016 · Synced Jul 22, 2026, 10:58 AM EDT
Terminated Not applicable Interventional

Storybook Reading in Individuals With Down Syndrome

NCT03764761
View directory record Official record
Conditions
Down Syndrome, Augmentative and Alternative Communication
Interventions
AAC Technology - Standard of Care, AAC Technology - non-optimal integrated arrangement
Device
Lead sponsor
Penn State University
Other
Eligibility
7 Years to 35 Years
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2021
U.S. locations
1
States / cities
University Park, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 28, 2022 · Synced Jul 22, 2026, 10:58 AM EDT
Completed Phase 4 Interventional Results available

Phase 3/4 Study of a Recombinant Protein-Free Factor VIII (rAHF-PFM): Comparison of Continuous Infusion Versus Intermittent Bolus Infusion in Hemophilia A Subjects Undergoing Major Orthopedic Surgery

NCT00357656
View directory record Official record
Conditions
Hemophilia A
Interventions
Recombinant Protein-Free Factor VIII (rAHF-PFM)
Drug
Lead sponsor
Baxalta now part of Shire
Industry
Eligibility
18 Years to 70 Years
Enrollment
85 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2015
U.S. locations
10
States / cities
Los Angeles, California • Washington D.C., District of Columbia • Chicago, Illinois + 7 more
Source: ClinicalTrials.gov public record
Updated May 18, 2021 · Synced Jul 22, 2026, 10:58 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Safety and Efficacy of rAAV-hRS1 in Patients With X-linked Retinoschisis (XLRS)

NCT02416622
View directory record Official record
Conditions
X-linked Retinoschisis
Interventions
rAAV2tYF-CB-hRS1
Biological
Lead sponsor
Beacon Therapeutics
Industry
Eligibility
6 Years and older · Male only
Enrollment
27 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2023
U.S. locations
9
States / cities
San Francisco, California • Miami, Florida • Baltimore, Maryland + 6 more
Source: ClinicalTrials.gov public record
Updated Jun 11, 2023 · Synced Jul 22, 2026, 10:58 AM EDT
Completed Phase 2 Interventional

Nutrients and Hormones: Effects in Boys With Disordered Growth

NCT00139451
View directory record Official record
Conditions
Constitutional Growth Delay, Nutrition Disorders, Growth Disorders
Interventions
Pediasure, GH
Drug
Lead sponsor
Nemours Children's Clinic
Other
Eligibility
7 Years to 10 Years · Male only
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2010
U.S. locations
1
States / cities
Jacksonville, Florida
Source: ClinicalTrials.gov public record
Updated Oct 11, 2011 · Synced Jul 22, 2026, 10:58 AM EDT