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ClinicalTrials.gov public records Last synced Oct 20, 2026, 12:37 AM EDT

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Showing 121–144 of 10,329 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Congenital, Hereditary, and Neonatal Diseases and Abnormalities Clear all
Recruiting Not applicable Interventional Accepts healthy volunteers

Identifying and Caring for Individuals With Inherited Cancer Syndrome

NCT04494945
View directory record Official record
Conditions
BRCA1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome, Breast Ductal Carcinoma In Situ, Hematopoietic and Lymphoid System Neoplasm, Hereditary Neoplastic Syndrome, Lynch Syndrome, Malignant Solid Neoplasm
Interventions
Biospecimen Collection, Genetic Counseling, Genetic Testing, Survey Administration
Procedure · Other
Lead sponsor
OHSU Knight Cancer Institute
Other
Eligibility
18 Years and older
Enrollment
27,500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2027
U.S. locations
2
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Jul 14, 2026 · Synced Oct 20, 2026, 12:37 AM EDT
Completed Phase 3 Interventional

INcreased Sun Exposure Without Pain In Research Participants With EPP or XLP

NCT06144840
View directory record Official record
Conditions
Erythropoietic Protoporphyria (EPP), X-Linked Protoporphyria (XLP)
Interventions
Dersimelagon, Placebo
Drug
Lead sponsor
Tanabe Pharma America, Inc.
Industry
Eligibility
12 Years to 75 Years
Enrollment
165 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
13
States / cities
Huntington Beach, California • San Francisco, California • Miami, Florida + 10 more
Source: ClinicalTrials.gov public record
Updated Jun 4, 2026 · Synced Oct 20, 2026, 12:37 AM EDT
Terminated Not applicable Interventional Accepts healthy volunteers Results available

Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy

NCT01541397
View directory record Official record
Conditions
Hyperphenylalaninemia, Phenylketonuria
Interventions
Sapropterin
Drug
Lead sponsor
The University of Texas Health Science Center, Houston
Other
Eligibility
18 Years to 50 Years
Enrollment
6 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2012
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jul 7, 2015 · Synced Oct 20, 2026, 12:37 AM EDT
Recruiting Phase 4 Interventional

Clinical and Biomarker Effects of Depot Medroxyprogesterone Acetate in Females With Sickle Cell Disease

NCT06665997
View directory record Official record
Conditions
Sickle Cell Disease (SCD), Vaso-Occlusive Pain Episode in Sickle Cell Disease
Interventions
Depot medroxyprogesterone acetate (DMPA)
Drug
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years to 50 Years · Female only
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
2
States / cities
Atlanta, Georgia • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated May 28, 2026 · Synced Oct 20, 2026, 12:37 AM EDT
Recruiting No phase listed Observational

FITting Non-invasive Tests in Lynch Syndrome Surveillance

NCT06898996
View directory record Official record
Conditions
Colorectal Cancer
Interventions
Fecal immunochemical test
Other
Lead sponsor
University of Chicago
Other
Eligibility
20 Years to 80 Years
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2029
U.S. locations
3
States / cities
Chicago, Illinois • Ann Arbor, Michigan • New York, New York
Source: ClinicalTrials.gov public record
Updated Apr 16, 2026 · Synced Oct 20, 2026, 12:37 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

A Study to Evaluate Safety and Tolerability of BMN 111 Administered to Healthy Adult Volunteers

NCT01590446
View directory record Official record
Conditions
Achondroplasia
Interventions
BMN 111, Normal Saline
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
22 Years to 45 Years · Male only
Enrollment
74 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012
U.S. locations
1
States / cities
Evansville, Indiana
Source: ClinicalTrials.gov public record
Updated Jun 11, 2012 · Synced Oct 20, 2026, 12:37 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Amyloid Plaque and Tangle Imaging in Alzheimer's Disease and Down Syndrome

NCT00965835
View directory record Official record
Conditions
Down Syndrome, Alzheimer's Disease
Interventions
Not listed
Lead sponsor
National Institute on Aging (NIA)
NIH
Eligibility
21 Years and older
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2011
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Dec 29, 2009 · Synced Oct 20, 2026, 12:37 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Detecting Dopaminergic Deficits in Individuals At-risk for Parkinsonism

NCT01358474
View directory record Official record
Conditions
Parkinson Disease, Gaucher Disease, Idiopathic Rapid Eye Movement Sleep Disorder
Interventions
Not listed
Lead sponsor
University of Minnesota
Other
Eligibility
18 Years to 85 Years
Enrollment
56 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2018
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 18, 2019 · Synced Oct 20, 2026, 12:37 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Angelman Syndrome Video Assessment (ASVA) Source Material Study

NCT05637697
View directory record Official record
Conditions
Angelman Syndrome
Interventions
Not listed
Lead sponsor
The Emmes Company, LLC
Industry
Eligibility
1 Year and older
Enrollment
73 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2023
U.S. locations
1
States / cities
Kingston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Dec 13, 2023 · Synced Oct 20, 2026, 12:37 AM EDT
Completed Phase 2 Interventional Results available

Combination Chemotherapy, Donor Stem Cell Transplant, Tacrolimus, Mycophenolate Mofetil, and Cyclophosphamide in Treating Patients With Hematologic Cancer

NCT00782379
View directory record Official record
Conditions
Leukemia, Lymphoma, Myelodysplastic Syndromes
Interventions
busulfan, cyclophosphamide, fludarabine phosphate, mycophenolate mofetil, tacrolimus, allogeneic hematopoietic stem cell transplantation, peripheral blood stem cell transplantation
Drug · Procedure
Lead sponsor
Northside Hospital, Inc.
Other
Eligibility
18 Years to 60 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2012
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Nov 21, 2013 · Synced Oct 20, 2026, 12:37 AM EDT
Completed Phase 2 Interventional Results available

Efficacy and Safety of Pemigatinib in Subjects With Advanced/Metastatic or Surgically Unresectable Cholangiocarcinoma Who Failed Previous Therapy - (FIGHT-202)

NCT02924376
View directory record Official record
Conditions
Cholangiocarcinoma
Interventions
Pemigatinib
Drug
Lead sponsor
Incyte Corporation
Industry
Eligibility
18 Years and older
Enrollment
147 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
49
States / cities
Anchorage, Alaska • Phoenix, Arizona • Tempe, Arizona + 46 more
Source: ClinicalTrials.gov public record
Updated Aug 14, 2025 · Synced Oct 20, 2026, 12:37 AM EDT
Terminated Not applicable Interventional Results available

Treatment of Single or Double Umbilical Cord Trans + Graft-versus-host Disease (GVHD) Prophylaxis w/ Tacrolimus & Mycophenolate Mofetil

NCT00608517
View directory record Official record
Conditions
Graft Versus Host Disease, Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes
Interventions
anti-thymocyte globulin, cyclophosphamide, fludarabine phosphate, methylprednisolone, total-body irradiation
Biological · Drug · Radiation
Lead sponsor
Vanderbilt-Ingram Cancer Center
Other
Eligibility
Up to 50 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2011
U.S. locations
4
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated May 20, 2014 · Synced Oct 20, 2026, 12:37 AM EDT
Completed Not applicable Interventional

The Impact of Exercise on Stress, Fatigue, and Quality of Life in Individuals With Primary Immunodeficiency Disease

NCT03211689
View directory record Official record
Conditions
Primary Immune Deficiency Disorder, Common Variable Immunodeficiency, Specific Antibody Deficiency, Hypergammaglobulinemia
Interventions
Exercise Program
Other
Lead sponsor
Stockton University
Other
Eligibility
18 Years and older
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017
U.S. locations
1
States / cities
Galloway, New Jersey
Source: ClinicalTrials.gov public record
Updated Sep 6, 2018 · Synced Oct 20, 2026, 12:37 AM EDT
Completed Phase 1 Interventional

Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria

NCT00634660
View directory record Official record
Conditions
Phenylketonuria
Interventions
rAvPAL-PEG
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
16 Years to 50 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
8
States / cities
Chicago, Illinois • Minneapolis, Minnesota • St Louis, Missouri + 5 more
Source: ClinicalTrials.gov public record
Updated Feb 1, 2017 · Synced Oct 20, 2026, 12:37 AM EDT
Completed No phase listed Observational

Renal Artery Dopplers in Twin Twin Transfusion Syndrome

NCT03449823
View directory record Official record
Conditions
Twin Twin Transfusion Syndrome
Interventions
Doppler ultrasound of fetal renal artery
Diagnostic Test
Lead sponsor
Columbia University
Other
Eligibility
Female only
Enrollment
24 participants
Timeline
2016 – 2018
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jul 18, 2018 · Synced Oct 20, 2026, 12:37 AM EDT
Active, not recruiting No phase listed Observational

LGMD R1 Natural History Study

NCT05618080
View directory record Official record
Conditions
Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2A, Limb Girdle Muscular Dystrophy, Limb Girdle Muscular Dystrophy Type R1, LGMD2A
Interventions
Not listed
Lead sponsor
Virginia Commonwealth University
Other
Eligibility
12 Years to 50 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
9
States / cities
Orange, California • Aurora, Colorado • Gainesville, Florida + 6 more
Source: ClinicalTrials.gov public record
Updated Jun 10, 2026 · Synced Oct 20, 2026, 12:37 AM EDT
Completed No phase listed Observational Results available

A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective Studies

NCT01977846
View directory record Official record
Conditions
Stargardt Disease
Interventions
Not listed
Lead sponsor
Foundation Fighting Blindness
Other
Eligibility
6 Years and older
Enrollment
259 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
6
States / cities
Baltimore, Maryland • Cleveland, Ohio • Philadelphia, Pennsylvania + 2 more
Source: ClinicalTrials.gov public record
Updated Nov 1, 2019 · Synced Oct 20, 2026, 12:37 AM EDT
Withdrawn No phase listed Observational Accepts healthy volunteers

Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia

NCT06560346
View directory record Official record
Conditions
Friedreich Ataxia, Rare Diseases
Interventions
Geneticlly confirmed disease causing FXN mutatuion, Healthy Control
Other
Lead sponsor
Friedreich's Ataxia Research Alliance
Other
Eligibility
4 Years to 21 Years
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2028
U.S. locations
3
States / cities
Iowa City, Iowa • Philadelphia, Pennsylvania • Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Jun 8, 2025 · Synced Oct 20, 2026, 12:37 AM EDT
Completed No phase listed Observational

Pregnancy in Osteogenesis Imperfecta (OI) Registry

NCT03072303
View directory record Official record
Conditions
Osteogenesis Imperfecta, Brittle Bone Disorders
Interventions
Web-based Survey
Other
Lead sponsor
University of South Florida
Other
Eligibility
Female only
Enrollment
170 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
1
States / cities
Tampa, Florida
Source: ClinicalTrials.gov public record
Updated Oct 16, 2019 · Synced Oct 20, 2026, 12:37 AM EDT
Completed Phase 3 Interventional Results available

A Study of Lebrikizumab (LY3650150) in Adult and Adolescent Participants With Moderate-to-Severe Atopic Dermatitis Previously Treated With Dupilumab

NCT05369403
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
Lebrikizumab
Drug
Lead sponsor
Eli Lilly and Company
Industry
Eligibility
12 Years and older
Enrollment
86 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
37
States / cities
Montgomery, Alabama • Phoenix, Arizona • Fountain Valley, California + 31 more
Source: ClinicalTrials.gov public record
Updated Feb 25, 2026 · Synced Oct 20, 2026, 12:37 AM EDT
Completed Not applicable Interventional Results available

Urological and Renal Disease Engaging Adolescents in Adherence Collaborative Trial

NCT03045276
View directory record Official record
Conditions
Spina Bifida, Kidney Transplant
Interventions
Behavioral Feedback and Economic Incentives: Arm 1, Behavioral Feedback and Economic Incentives: Arm 2
Behavioral
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
12 Years to 24 Years
Enrollment
465 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
6
States / cities
Atlanta, Georgia • Chicago, Illinois • Boston, Massachusetts + 3 more
Source: ClinicalTrials.gov public record
Updated Nov 9, 2023 · Synced Oct 20, 2026, 12:37 AM EDT
Recruiting Not applicable Interventional

Fetal Endotracheal Occlusion (FETO) in the Resolution of Pulmonary Hypertension in Fetuses With Severe CDH

NCT03980717
View directory record Official record
Conditions
Congenital Diaphragmatic Hernia
Interventions
Goldbal Detachable Balloon and delivery microcatheter
Device
Lead sponsor
Michael A Belfort
Other
Eligibility
18 Years to 45 Years · Female only
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2030
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Feb 6, 2026 · Synced Oct 20, 2026, 12:37 AM EDT
Not yet recruiting Phase 1 Interventional

Escalating Doses of Memantine in Down Syndrome (MEDS-123)

NCT07531940
View directory record Official record
Conditions
Down Syndrome, Intellectual Disability, Alzheimer Dementia (AD)
Interventions
Memantine
Drug
Lead sponsor
University Hospitals Cleveland Medical Center
Other
Eligibility
18 Years to 32 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Oct 5, 2026 · Synced Oct 20, 2026, 12:37 AM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias

NCT02413450
View directory record Official record
Conditions
Inherited Cardiac Arrythmias, Long QT Syndrome (LQTS), Brugada Syndrome (BrS), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Early Repolarization Syndrome (ERS), Arrhythmogenic Cardiomyopathy (AC, ARVD/C), Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy), Normal Control Subjects
Interventions
Not listed
Lead sponsor
Johns Hopkins University
Other
Eligibility
18 Years to 85 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2031
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 16, 2026 · Synced Oct 20, 2026, 12:37 AM EDT