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ClinicalTrials.gov public records Last synced Oct 19, 2026, 4:39 PM EDT

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Showing 145–168 of 9,568 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetics Clear all
Active, not recruiting Phase 3 Interventional

Study of Immune Globulin Intravenous (Human) GC5107 in Pediatric Subjects With Primary Humoral Immunodeficiency

NCT04565015
View directory record Official record
Conditions
Primary Immune Deficiency
Interventions
GC5107
Biological
Lead sponsor
GC Biopharma Corp
Industry
Eligibility
2 Years to 16 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2026
U.S. locations
5
States / cities
Aurora, Colorado • Centennial, Colorado • Dallas, Texas + 2 more
Source: ClinicalTrials.gov public record
Updated Jul 25, 2025 · Synced Oct 19, 2026, 4:39 PM EDT
Recruiting Phase 4 Interventional

Immune Modulation During Palynziq® Treatment in Adults (IMPALA)

NCT07477691
View directory record Official record
Conditions
Phenylketonuria
Interventions
Pegvaliase, Methotrexate
Biological · Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
18 Years to 65 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
12
States / cities
Los Angeles, California • Aurora, Colorado • Tampa, Florida + 9 more
Source: ClinicalTrials.gov public record
Updated Jun 17, 2026 · Synced Oct 19, 2026, 4:39 PM EDT
Recruiting Not applicable Interventional

Managing Depressive Symptoms in ADPKD

NCT07745920
View directory record Official record
Conditions
Autosomal Dominant Polycystic Kidney Disease
Interventions
Mayo Clinic-Approved Education, Digital Neuropathy, Capacity Coaching
Behavioral
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years to 70 Years
Enrollment
105 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Aug 7, 2026 · Synced Oct 19, 2026, 4:39 PM EDT
Terminated Phase 1 Interventional

Safety and Efficacy of HMI-103 in Participants With Classical PKU Due to PAH Deficiency

NCT05222178
View directory record Official record
Conditions
Phenylketonurias, PAH Deficiency, Phenylketonuria
Interventions
HMI-103
Drug
Lead sponsor
Homology Medicines, Inc
Industry
Eligibility
18 Years to 55 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
2
States / cities
Topeka, Indiana • Lancaster, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 10, 2023 · Synced Oct 19, 2026, 4:39 PM EDT
Completed Phase 2Phase 3 Interventional Accepts healthy volunteers Results available

Sorbent Therapy of the Cutaneous Porphyrias

NCT01422915
View directory record Official record
Conditions
Erythropoietic Protoporphyria
Interventions
Colestipol
Drug
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
22 Years to 60 Years
Enrollment
4 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2012
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 25, 2017 · Synced Oct 19, 2026, 4:39 PM EDT
Enrolling by invitation Phase 2Phase 3 Interventional

An Interventional Study of Infigratinib in Children With Hypochondroplasia

NCT06873035
View directory record Official record
Conditions
Hypochondroplasia
Interventions
infigratinib 0.128 mg/kg/day, infigratinib 0.25 mg/kg/day
Drug
Lead sponsor
QED Therapeutics, a BridgeBio company
Industry
Eligibility
3 Years to 18 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
8
States / cities
Oakland, California • Aurora, Colorado • Washington D.C., District of Columbia + 5 more
Source: ClinicalTrials.gov public record
Updated Jul 16, 2026 · Synced Oct 19, 2026, 4:39 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

National Eye Institute Biorepository for Retinal Diseases

NCT01496625
View directory record Official record
Conditions
Age-Related Macular Degeneration, Diabetic Retinopathy, Von Hippel-Lindau Syndrome, Retinal Disease, Retinal Vein Occlusion
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
2 Years to 120 Years
Enrollment
650 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2012
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 19, 2026, 4:39 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Analysis of the Nervous System in Patients With Fabry's Disease

NCT00001491
View directory record Official record
Conditions
Fabry's Disease
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Not listed
Enrollment
325 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1995 – 2008
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 19, 2026, 4:39 PM EDT
Terminated Phase 3 Interventional Results available

Effect of Ticagrelor vs. Placebo in the Reduction of Vaso-occlusive Crises in Pediatric Patients With Sickle Cell Disease

NCT03615924
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Ticagrelor, Placebo
Drug
Lead sponsor
AstraZeneca
Industry
Eligibility
2 Years to 17 Years
Enrollment
193 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
7
States / cities
Fort Lauderdale, Florida • Miami, Florida • Chicago, Illinois + 4 more
Source: ClinicalTrials.gov public record
Updated Apr 9, 2021 · Synced Oct 19, 2026, 4:39 PM EDT
Completed No phase listed Observational Accepts healthy volunteers Results available

Periodontal Disease Prevention Study

NCT01584479
View directory record Official record
Conditions
Periodontitis
Interventions
Not listed
Lead sponsor
University of Michigan
Other
Eligibility
34 Years to 55 Years
Enrollment
5,117 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2012
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Jul 9, 2015 · Synced Oct 19, 2026, 4:39 PM EDT
Completed Phase 1Phase 2 Interventional

Feasibility and Acceptability of Implementing a Clinic-based Physical Activity Coaching Intervention in People With Premanifest and Early Stage HD

NCT03306888
View directory record Official record
Conditions
Huntington's Disease
Interventions
Physical Activity Coaching
Other
Lead sponsor
Teachers College, Columbia University
Other
Eligibility
18 Years to 65 Years
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated May 30, 2019 · Synced Oct 19, 2026, 4:39 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Dissemination and Implementation of Stroke Prevention Looking at the Care Environment

NCT04173026
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Provider-level intervention, Patient-level intervention
Other
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
2 Years to 7 Years
Enrollment
16 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2023
U.S. locations
15
States / cities
Little Rock, Arkansas • Oakland, California • Wilmington, Delaware + 10 more
Source: ClinicalTrials.gov public record
Updated Jul 3, 2023 · Synced Oct 19, 2026, 4:39 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

REVEAL III: Risk Evaluation and Education for Alzheimer's Disease

NCT00462917
View directory record Official record
Conditions
Alzheimer Disease
Interventions
Pleiotropic info, in-person disclosure, AD-only info, in-person disclosure, Pleiotropic info, phone disclosure, AD-only info, phone disclosure
Behavioral
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years to 85 Years
Enrollment
290 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2007 – 2009
U.S. locations
4
States / cities
Washington D.C., District of Columbia • Boston, Massachusetts • Ann Arbor, Michigan + 1 more
Source: ClinicalTrials.gov public record
Updated Oct 23, 2018 · Synced Oct 19, 2026, 4:39 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Combined Focused Ultrasound and Calcium Hydroxylapatitie Filler for Skin Laxity and Volume Restoration

NCT04176068
View directory record Official record
Conditions
Skin Laxity
Interventions
calcium hydroxylapatite (Radiesse) and IFUS (Ulthera)
Combination Product
Lead sponsor
University of California, Irvine
Other
Eligibility
18 Years to 85 Years
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2021
U.S. locations
1
States / cities
Irvine, California
Source: ClinicalTrials.gov public record
Updated Feb 2, 2024 · Synced Oct 19, 2026, 4:39 PM EDT
Not listed Phase 2 Interventional

Efficacy and Safety Study of Niraparib in Melanoma With Genetic Homologous Recombination (HR) Mutation

NCT03925350
View directory record Official record
Conditions
Metastatic Melanoma
Interventions
Niraparib
Drug
Lead sponsor
California Pacific Medical Center Research Institute
Other
Eligibility
18 Years and older
Enrollment
41 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2023
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Oct 22, 2021 · Synced Oct 19, 2026, 4:39 PM EDT
Recruiting No phase listed Observational

The Natural History of Familial Dysautonomia

NCT03920774
View directory record Official record
Conditions
Familial Dysautonomia (Riley-Day Syndrome), Hereditary Sensory and Autonomic Neuropathies, Hereditary Sensory and Autonomic Neuropathy 3
Interventions
Not listed
Lead sponsor
NYU Langone Health
Other
Eligibility
4 Years and older
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2028
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Nov 10, 2025 · Synced Oct 19, 2026, 4:39 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

MyVHL: Patient Natural History Study

NCT03749980
View directory record Official record
Conditions
Von Hippel-Lindau Disease, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, SDHB Gene Mutation
Interventions
Not listed
Lead sponsor
Joshua Mann, MPH
Other
Eligibility
Not listed
Enrollment
10,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2028
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 26, 2024 · Synced Oct 19, 2026, 4:39 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Safety and Dose-Finding Study of DTX401 (AAV8G6PC) in Adults With Glycogen Storage Disease Type Ia (GSDIa)

NCT03517085
View directory record Official record
Conditions
GSD1
Interventions
DTX401, steroid regimen
Genetic · Drug
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
18 Years and older
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2021
U.S. locations
3
States / cities
Farmington, Connecticut • Ann Arbor, Michigan • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Nov 18, 2022 · Synced Oct 19, 2026, 4:39 PM EDT
Completed Phase 1 Interventional

Transformation of Plexiform Neurofibromas to Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis Type 1

NCT02211768
View directory record Official record
Conditions
Neurofibromatosis, MPNST
Interventions
MRI, FDG-PET/CT scans, [18F]-FLT-PET/CT scans
Procedure · Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
10 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 19, 2026, 4:39 PM EDT
Completed Not applicable Interventional

Quantitative MRI for Patients With Sickle Cell Disease Undergoing Hematopoietic Cell Transplant

NCT03458897
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
serial functional magnetic resonance imaging (MRI)
Diagnostic Test
Lead sponsor
University of Michigan
Other
Eligibility
5 Years and older
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Nov 13, 2020 · Synced Oct 19, 2026, 4:39 PM EDT
Completed Phase 1 Interventional

PEG-Glucocerebrosidase for the Treatment of Gaucher Disease

NCT00001410
View directory record Official record
Conditions
Gaucher's Disease
Interventions
Lysodase
Drug
Lead sponsor
National Institute of Mental Health (NIMH)
NIH
Eligibility
Not listed
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1993 – 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 19, 2026, 4:39 PM EDT
Not listed Not applicable Interventional

Study of an Intervention to Improve Problem List Accuracy and Use

NCT01105923
View directory record Official record
Conditions
Attention Deficit Disorder With Hyperactivity, Asthma, COPD, Breast Cancer, Coronary Artery Disease, Congestive Heart Failure, Diabetes, Glaucoma, Hemophilia, Hypertension, Hyperthyroidism, Hypothyroidism, Myasthenia Gravis, Osteoporosis, Osteopenia, Renal Failure, Renal Insufficiency, Sickle Cell Disease, Stroke
Interventions
MAPLE
Other
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years and older
Enrollment
140 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2017
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Feb 2, 2015 · Synced Oct 19, 2026, 4:39 PM EDT
Completed Phase 2 Interventional Results available

Pirfenidone to Treat Kidney Disease (Focal Segmental Glomerulosclerosis)

NCT00001959
View directory record Official record
Conditions
Fibrosis, Focal Glomerulosclerosis, Kidney Failure, Nephrotic Syndrome, Proteinuria
Interventions
Pirfenidone
Drug
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIH
Eligibility
18 Years and older
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2008
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 26, 2014 · Synced Oct 19, 2026, 4:39 PM EDT
Completed Phase 3 Interventional Results available

Efficacy and Safety Study of DX-88 to Treat Acute Attacks of Hereditary Angioedema (HAE)

NCT00262080
View directory record Official record
Conditions
Hereditary Angioedema (HAE)
Interventions
ecallantide, Phosphate Buffer Saline (PBS),
Drug
Lead sponsor
Shire
Industry
Eligibility
10 Years and older
Enrollment
91 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2007
U.S. locations
1
States / cities
Wheaton, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 11, 2021 · Synced Oct 19, 2026, 4:39 PM EDT