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ClinicalTrials.gov public records Last synced Oct 23, 2026, 2:48 AM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Showing 865–888 of 8,007 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetics/Birth Defects Clear all
Completed Phase 2 Interventional Results available

Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU)

NCT01212744
View directory record Official record
Conditions
Phenylketonuria
Interventions
rAvPAL-PEG
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
16 Years to 70 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2015
U.S. locations
9
States / cities
Aurora, Colorado • Gainesville, Florida • Louisville, Kentucky + 6 more
Source: ClinicalTrials.gov public record
Updated Feb 26, 2019 · Synced Oct 23, 2026, 2:48 AM EDT
Completed No phase listed Observational

Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis Bullosa

NCT00904163
View directory record Official record
Conditions
Epidermolysis Bullosa Dystrophica
Interventions
Not listed
Lead sponsor
Stanford University
Other
Eligibility
18 Years and older
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2014
U.S. locations
1
States / cities
Stanford, California
Source: ClinicalTrials.gov public record
Updated May 16, 2014 · Synced Oct 23, 2026, 2:48 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

A Study to Assess Plasma Ammonia Time-Normalized Area Under the Curve and Rate of Ureagenesis in Healthy Adult Subjects

NCT04269122
View directory record Official record
Conditions
Ornithine Transcarbamylase Deficiency
Interventions
No Intervention
Other
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
18 Years to 55 Years
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2020
U.S. locations
1
States / cities
Austin, Texas
Source: ClinicalTrials.gov public record
Updated Mar 30, 2020 · Synced Oct 23, 2026, 2:48 AM EDT
Completed Phase 2 Interventional Results available

Study of Dupilumab Administered to Adult Patients With Moderate-to-Severe Atopic Dermatitis

NCT01859988
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
Dupilumab, Placebo
Drug
Lead sponsor
Regeneron Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
380 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
25
States / cities
Birmingham, Alabama • Mobile, Alabama • Tucson, Arizona + 22 more
Source: ClinicalTrials.gov public record
Updated Aug 28, 2017 · Synced Oct 23, 2026, 2:48 AM EDT
Recruiting No phase listed Observational

Glioma Developmental and HyperActive Ras Tumor (DHART) Board

NCT05489783
View directory record Official record
Conditions
Glioma
Interventions
Not listed
Lead sponsor
Memorial Sloan Kettering Cancer Center
Other
Eligibility
18 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
7
States / cities
Basking Ridge, New Jersey • Middletown, New Jersey • Montvale, New Jersey + 4 more
Source: ClinicalTrials.gov public record
Updated Aug 31, 2026 · Synced Oct 23, 2026, 2:48 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers Results available

Study to Evaluate Safety and Tolerability of PF-07242813 in Healthy Participants and Participants With Atopic Dermatitis

NCT04668066
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
PF-07242813, Placebo
Drug
Lead sponsor
Pfizer
Industry
Eligibility
18 Years to 65 Years
Enrollment
121 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2022
U.S. locations
7
States / cities
Anaheim, California • Fountain Valley, California • Los Angeles, California + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 3, 2024 · Synced Oct 23, 2026, 2:48 AM EDT
Completed No phase listed Observational

23andMe IPF Research Study

NCT05028894
View directory record Official record
Conditions
Idiopathic Pulmonary Fibrosis
Interventions
No intervention
Other
Lead sponsor
23andMe, Inc.
Industry
Eligibility
18 Years and older
Enrollment
690 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
1
States / cities
Sunnyvale, California
Source: ClinicalTrials.gov public record
Updated Dec 9, 2024 · Synced Oct 23, 2026, 2:48 AM EDT
Completed No phase listed Observational Results available

Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®

NCT00937794
View directory record Official record
Conditions
Hunter Syndrome
Interventions
Neurobehavioral testing, Visual and auditory assessments
Behavioral · Other
Lead sponsor
Shire
Industry
Eligibility
32 Months to 18 Years · Male only
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 14, 2021 · Synced Oct 23, 2026, 2:48 AM EDT
Recruiting Phase 4 Interventional

Standardizing Treatments for Pulmonary Exacerbations - Aminoglycoside Study

NCT05548283
View directory record Official record
Conditions
Cystic Fibrosis, Cystic Fibrosis Pulmonary Exacerbation
Interventions
Beta-lactam antibiotic, Aminoglycoside
Drug
Lead sponsor
Chris Goss
Other
Eligibility
6 Years and older
Enrollment
730 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
59
States / cities
Birmingham, Alabama • Tucson, Arizona • La Jolla, California + 49 more
Source: ClinicalTrials.gov public record
Updated Jul 8, 2026 · Synced Oct 23, 2026, 2:48 AM EDT
Completed Not applicable Interventional

Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting

NCT01582841
View directory record Official record
Conditions
Colon Cancer, Lynch Syndrome
Interventions
MSI screening test
Procedure
Lead sponsor
Kaiser Permanente
Other
Eligibility
18 Years and older
Enrollment
247 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Aug 31, 2016 · Synced Oct 23, 2026, 2:48 AM EDT
Completed Phase 3 Interventional Results available

Prospective Biomarkers of Bone Metabolism in Hemophilia A

NCT02306694
View directory record Official record
Conditions
Hemophilia, Bone Disease
Interventions
Advate
Drug
Lead sponsor
Oregon Health and Science University
Other
Eligibility
16 Years to 85 Years · Male only
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2018
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Apr 1, 2020 · Synced Oct 23, 2026, 2:48 AM EDT
Completed Phase 3 Interventional Results available

Efficacy and Safety of Intrathecal OAV101 (AVXS-101) in Pediatric Patients With Type 2 Spinal Muscular Atrophy (SMA)

NCT05089656
View directory record Official record
Conditions
Type 2 Spinal Muscular Atrophy
Interventions
OAV101, Sham control
Genetic · Procedure
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
2 Years to 17 Years
Enrollment
126 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
6
States / cities
Farmington, Connecticut • Chicago, Illinois • Strasburg, Pennsylvania + 2 more
Source: ClinicalTrials.gov public record
Updated Jan 13, 2026 · Synced Oct 23, 2026, 2:48 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Assessing the Feasibility of the Use of Visual Aids in Patient Education in Adults With Down Syndrome (DS)

NCT02895802
View directory record Official record
Conditions
Down Syndrome
Interventions
Verbal instructions with picture diagram, Verbal instructions with video of ADSC, verbal instructions w. video of w/o DS, verbal instructions w. video w/DS
Behavioral
Lead sponsor
Wake Forest University Health Sciences
Other
Eligibility
18 Years and older
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2017
U.S. locations
1
States / cities
Park Ridge, Illinois
Source: ClinicalTrials.gov public record
Updated Oct 4, 2024 · Synced Oct 23, 2026, 2:48 AM EDT
Completed No phase listed Observational Results available

Developing a Down Syndrome Health Instrument

NCT04631237
View directory record Official record
Conditions
Down Syndrome, Health, Subjective
Interventions
Observational, no intervention
Other
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years and older
Enrollment
758 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2025
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 27, 2026 · Synced Oct 23, 2026, 2:48 AM EDT
Recruiting No phase listed Observational

A Long-term Follow-up Study of Gaucher Disease

NCT03190837
View directory record Official record
Conditions
Gaucher Disease
Interventions
Not listed
Lead sponsor
Duke University
Other
Eligibility
Not listed
Enrollment
200 participants
Timeline
2017 – 2028
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Sep 3, 2026 · Synced Oct 23, 2026, 2:48 AM EDT
Completed Phase 2 Interventional Accepts healthy volunteers Results available

Down Syndrome Memantine Follow-up Study

NCT02304302
View directory record Official record
Conditions
Down Syndrome, Intellectual Disability
Interventions
Memantine, Placebo
Drug
Lead sponsor
University Hospitals Cleveland Medical Center
Other
Eligibility
15 Years to 32 Years
Enrollment
160 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2020
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 27, 2023 · Synced Oct 23, 2026, 2:48 AM EDT
Recruiting No phase listed Observational

A Natural History Study of Angelman Syndrome

NCT07417137
View directory record Official record
Conditions
Angelman Syndrome, Neurodevelopmental Conditions
Interventions
Not listed
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
1 Year and older
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2029
U.S. locations
1
States / cities
Lexington, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 23, 2026, 2:48 AM EDT
Active, not recruiting Not applicable Interventional

Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)

NCT06139172
View directory record Official record
Conditions
Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis, Hamartoma Syndrome, Multiple, Fragile X Syndrome, Angelman Syndrome, Rett Syndrome, Chromosome 15Q, Partial Deletion, Creatine Deficiency, X-linked
Interventions
Functional Behavioral Training (FBT), Positive Parenting Strategies-Treatment as Usual
Behavioral · Other
Lead sponsor
Rush University Medical Center
Other
Eligibility
2 Years to 12 Years
Enrollment
79 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Sep 18, 2026 · Synced Oct 23, 2026, 2:48 AM EDT
Completed No phase listed Observational

Arrhythmias in Myotonic Muscular Dystrophy

NCT00622453
View directory record Official record
Conditions
Muscular Dystrophy, Arrhythmia, Sudden Cardiac Death
Interventions
Screening
Other
Lead sponsor
Indiana University
Other
Eligibility
18 Years and older
Enrollment
448 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1996 – 2015
U.S. locations
1
States / cities
Indianapolis, Indiana
Source: ClinicalTrials.gov public record
Updated Feb 14, 2018 · Synced Oct 23, 2026, 2:48 AM EDT
Completed Phase 3 Interventional Results available

A Study Evaluating the Efficacy and Safety of the LentiGlobin® BB305 Drug Product in Participants With Transfusion-Dependent β-Thalassemia, Who do Not Have a β0/β0 Genotype

NCT02906202
View directory record Official record
Conditions
Beta-Thalassemia
Interventions
LentiGlobin BB305 Drug Product
Genetic
Lead sponsor
Genetix Biotherapeutics Inc.
Industry
Eligibility
0 Years to 50 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2022
U.S. locations
3
States / cities
Oakland, California • Chicago, Illinois • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 18, 2023 · Synced Oct 23, 2026, 2:48 AM EDT
Active, not recruiting Not applicable Interventional Accepts healthy volunteers

Acupressure in Patients With Sickle Cell Disease

NCT06511453
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Verum Acupressure (using AcuWand), Sham Acupressure (using AcuWand)
Device
Lead sponsor
Indiana University
Other
Eligibility
18 Years to 80 Years
Enrollment
59 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2027
U.S. locations
2
States / cities
Irvine, California • Indianapolis, Indiana
Source: ClinicalTrials.gov public record
Updated Jul 31, 2026 · Synced Oct 23, 2026, 2:48 AM EDT
Recruiting Phase 1Phase 2 Interventional

Campath/Fludarabine/Melphalan Transplant Conditioning for Non-Malignant Diseases

NCT00920972
View directory record Official record
Conditions
Metabolic Disorders, Hematologic, Immune, or Bone Marrow Disorders, Hemoglobinopathies, Non-malignant Disorders
Interventions
Treatment Plan 1: Stratum 1, Treatment Plan 2: Strata 2, 3, or 4, GVHD Regimen A: UCB Recipients, GVHD Regimen B: BM Recipients
Drug
Lead sponsor
Washington University School of Medicine
Other
Eligibility
Up to 20 Years
Enrollment
220 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2031
U.S. locations
25
States / cities
Phoenix, Arizona • Orange, California • San Diego, California + 20 more
Source: ClinicalTrials.gov public record
Updated Sep 16, 2026 · Synced Oct 23, 2026, 2:48 AM EDT
Active, not recruiting No phase listed Observational

Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708

NCT05317637
View directory record Official record
Conditions
Osteogenesis Imperfecta
Interventions
Not listed
Lead sponsor
Baylor College of Medicine
Other
Eligibility
18 Years and older
Enrollment
18 participants
Timeline
2022 – 2027
U.S. locations
3
States / cities
Los Angeles, California • Baltimore, Maryland • New York, New York
Source: ClinicalTrials.gov public record
Updated Mar 2, 2026 · Synced Oct 23, 2026, 2:48 AM EDT
Completed Phase 4 Interventional Results available

Infusion Duration Study To Assess Tolerability of Pegloticase Administered With a Shorter Infusion Duration in Subjects With Uncontrolled Gout Receiving Methotrexate

NCT04511702
View directory record Official record
Conditions
Chronic Uncontrolled Gout, Gout, Uncontrolled Gout
Interventions
Pegloticase with MTX
Biological
Lead sponsor
Amgen
Industry
Eligibility
18 Years and older
Enrollment
191 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
39
States / cities
Birmingham, Alabama • Anchorage, Alaska • Gilbert, Arizona + 33 more
Source: ClinicalTrials.gov public record
Updated Oct 20, 2025 · Synced Oct 23, 2026, 2:48 AM EDT