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ClinicalTrials.gov public records Last synced Oct 21, 2026, 2:36 AM EDT

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Showing 49–72 of 10,538 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Congenital Disorders Clear all
Recruiting No phase listed Observational

Rapid Evacuation and Access of Cerebral Hemorrhage Registry

NCT07651631
View directory record Official record
Conditions
Intracerebral Hemorrhage
Interventions
Not listed
Lead sponsor
Emory University
Other
Eligibility
18 Years and older
Enrollment
2,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2033
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Aug 26, 2026 · Synced Oct 21, 2026, 2:36 AM EDT
Completed Phase 2 Interventional Results available

An Extension Trial of Inclisiran in Participants With Cardiovascular Disease and High Cholesterol

NCT03060577
View directory record Official record
Conditions
Atherosclerotic Cardiovascular Disease, Symptomatic Atherosclerosis, Type2 Diabetes, Familial Hypercholesterolemia
Interventions
Inclisiran, Evolocumab
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
382 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
8
States / cities
Jacksonville, Florida • Indianapolis, Indiana • New York, New York + 4 more
Source: ClinicalTrials.gov public record
Updated Mar 24, 2023 · Synced Oct 21, 2026, 2:36 AM EDT
Recruiting Phase 3 Interventional

KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases

NCT06451757
View directory record Official record
Conditions
Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD), Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS), Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
Interventions
Sonlicromanol, Placebo
Drug
Lead sponsor
Khondrion BV
Industry
Eligibility
18 Years and older
Enrollment
220 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2029
U.S. locations
3
States / cities
Boston, Massachusetts • Cleveland, Ohio • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Oct 14, 2026 · Synced Oct 21, 2026, 2:36 AM EDT
Completed No phase listed Observational

Platelet Function in Patients With Hemophilia A

NCT02093065
View directory record Official record
Conditions
Hemophilia A
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
2 Years to 18 Years · Male only
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2020
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jul 14, 2020 · Synced Oct 21, 2026, 2:36 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Safety and Dose-escalation Study of AAV2-hCHM in Participants With CHM (Choroideremia) Gene Mutations

NCT02341807
View directory record Official record
Conditions
Choroideremia, CHM (Choroideremia) Gene Mutations
Interventions
AAV2-hCHM
Biological
Lead sponsor
Spark Therapeutics, Inc.
Industry
Eligibility
18 Years and older · Male only
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2022
U.S. locations
3
States / cities
Boston, Massachusetts • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 25, 2024 · Synced Oct 21, 2026, 2:36 AM EDT
Terminated Phase 2 Interventional Results available

A Long-Term Extension Trial in Participants With Atopic Dermatitis Who Participated in Previous EDP1815 Trials

NCT05439941
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
EDP1815
Drug
Lead sponsor
Evelo Biosciences, Inc.
Industry
Eligibility
18 Years to 76 Years
Enrollment
287 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
24
States / cities
Birmingham, Alabama • Fountain Valley, California • Fremont, California + 19 more
Source: ClinicalTrials.gov public record
Updated Sep 7, 2023 · Synced Oct 21, 2026, 2:36 AM EDT
Active, not recruiting Phase 3 Interventional

Setrusumab vs Bisphosphonates in Pediatric Subjects With Osteogenesis Imperfecta

NCT05768854
View directory record Official record
Conditions
Osteogenesis Imperfecta
Interventions
Bisphosphonate, Setrusumab
Drug · Biological
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
2 Years to 6 Years
Enrollment
69 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
13
States / cities
Phoenix, Arizona • Los Angeles, California • Aurora, Colorado + 10 more
Source: ClinicalTrials.gov public record
Updated Oct 20, 2026 · Synced Oct 21, 2026, 2:36 AM EDT
Completed Phase 3 Interventional Results available

Safety of Tobramycin Inhalation Powder (TIP) vs Tobramycin Solution for Inhalation in Patients With Cystic Fibrosis

NCT00388505
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Tobramycin Inhalation Powder, Tobramycin Solution for Inhalation
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
6 Years and older
Enrollment
517 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2009
U.S. locations
24
States / cities
Hartford, Connecticut • Atlanta, Georgia • Chicago, Illinois + 21 more
Source: ClinicalTrials.gov public record
Updated Jul 24, 2012 · Synced Oct 21, 2026, 2:36 AM EDT
Terminated Phase 1 Interventional

Dronabinol for Pain and Inflammation in Adults Living With Sickle Cell Disease

NCT03978156
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Dronabinol 2.5 MG, Microcrystalline cellulose
Drug
Lead sponsor
Yale University
Other
Eligibility
18 Years and older
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Jan 26, 2021 · Synced Oct 21, 2026, 2:36 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy

NCT01594853
View directory record Official record
Conditions
X-linked Adrenoleukodystrophy
Interventions
exercise training
Behavioral
Lead sponsor
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Other
Eligibility
21 Years to 70 Years · Female only
Enrollment
31 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2014
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 29, 2018 · Synced Oct 21, 2026, 2:36 AM EDT
Terminated Phase 3 Interventional Results available

Extension Treatment Using EryDex System in Patients With AT Who Participated in the ATTeST-IEDAT-02-2015 Study

NCT03563053
View directory record Official record
Conditions
Ataxia Telangiectasia, Genetic Syndrome
Interventions
EryDex System
Combination Product
Lead sponsor
Quince Therapeutics S.p.A.
Industry
Eligibility
6 Years and older
Enrollment
104 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2022
U.S. locations
4
States / cities
Los Angeles, California • Baltimore, Maryland • Cincinnati, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Oct 8, 2024 · Synced Oct 21, 2026, 2:36 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

A Study of How Safe Abrocitinib (CIBINQO) is in Pregnant Women and Their Offspring

NCT05721937
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
Abrocitinib
Drug
Lead sponsor
Pfizer
Industry
Eligibility
0 Years and older · Female only
Enrollment
400 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2027
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Dec 9, 2025 · Synced Oct 21, 2026, 2:36 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Clinical Implementation of Carrier Status Using Next Generation Sequencing

NCT01902901
View directory record Official record
Conditions
Genetic Disorders
Interventions
Whole Genome Sequencing, Carrier status testing
Genetic
Lead sponsor
Kaiser Permanente
Other
Eligibility
21 Years to 50 Years
Enrollment
384 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2018
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Apr 17, 2019 · Synced Oct 21, 2026, 2:36 AM EDT
Completed Not applicable Interventional

Early Intervention in Pulmonary Exacerbation in Cystic Fibrosis

NCT00850551
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Early Intervention
Other
Lead sponsor
University of Washington
Other
Eligibility
18 Years and older
Enrollment
42 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Dec 1, 2016 · Synced Oct 21, 2026, 2:36 AM EDT
Completed Phase 4 Interventional

A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease.

NCT00365131
View directory record Official record
Conditions
Gaucher Disease Type I, Cerebroside Lipidosis Syndrome, Clucocerebrosidase Deficiency Disease, Glucosylceramide Beta-Glucosidase Deficiency Disease, Gaucher Disease, Non-Neuronopathic Form
Interventions
Cerezyme (imiglucerase for injection)
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
10 Years to 65 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1997 – 2004
U.S. locations
1
States / cities
Coral Springs, Florida
Source: ClinicalTrials.gov public record
Updated Mar 5, 2015 · Synced Oct 21, 2026, 2:36 AM EDT
Completed No phase listed Observational

Needs Assessment of Knowledge, Beliefs, and Attitudes of Patients With Hemophilia B About Gene Therapy

NCT05044845
View directory record Official record
Conditions
Gene Therapy, Hemophilia B
Interventions
Interview
Behavioral
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
12 Years and older
Enrollment
150 participants
Timeline
2022 – 2025
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Nov 14, 2025 · Synced Oct 21, 2026, 2:36 AM EDT
Recruiting Phase 1Phase 2 Interventional

A Phase 1/2, First-in-Human Dose Escalation/Expansion Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of a Subretinal Injection of SB-007 in Subjects With Stargardt Disease (STGD1)

NCT06942572
View directory record Official record
Conditions
Stargardt Disease, Stargardt Macular Degeneration, Stargardt Macular Dystrophy
Interventions
SB-007
Genetic
Lead sponsor
Splice Bio
Industry
Eligibility
12 Years to 65 Years
Enrollment
57 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
5
States / cities
Aurora, Colorado • Miami, Florida • Boston, Massachusetts + 2 more
Source: ClinicalTrials.gov public record
Updated Apr 29, 2025 · Synced Oct 21, 2026, 2:36 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Allogeneic Hematopoietic Cell Transplantation for Patients With Busulfex-based Regimen

NCT00448357
View directory record Official record
Conditions
Chronic Myeloproliferative Disorders, Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes
Interventions
rabbit anti-thymocyte globulin (ATG), therapeutic allogeneic lymphocytes, busulfan, fludarabine phosphate, tacrolimus, allogeneic hematopoietic stem cell transplantation, peripheral blood stem cell transplantation, methotrexate
Biological · Drug · Procedure
Lead sponsor
UNC Lineberger Comprehensive Cancer Center
Other
Eligibility
18 Years to 55 Years
Enrollment
54 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2015
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 17, 2017 · Synced Oct 21, 2026, 2:36 AM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Neurodevelopmental Outcomes in ZIKV-Exposed Children

NCT04398901
View directory record Official record
Conditions
Zika Virus, Congenital Zika Syndrome, Congenital Infection, Child Development
Interventions
Neurodevelopmental assessments
Other
Lead sponsor
Children's National Research Institute
Other
Eligibility
3 Years to 7 Years
Enrollment
204 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2025
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Jul 3, 2025 · Synced Oct 21, 2026, 2:36 AM EDT
Recruiting No phase listed Observational

Genetic and Metabolic Disease in Children

NCT02650622
View directory record Official record
Conditions
Genetic Diseases, Metabolic Diseases
Interventions
Skin Biopsy
Procedure
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
1 Day and older
Enrollment
1,550 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2030
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Jul 2, 2026 · Synced Oct 21, 2026, 2:36 AM EDT
Enrolling by invitation Not applicable Interventional

Investigation of β-hydroxybutyrate Supplementation as Chemoprevention in Familial Adenomatous Polyposis

NCT06578637
View directory record Official record
Conditions
FAP, Familial Adenomatous Polyposis
Interventions
R-1,3-Butanediol (10G-A), R-1,3-Butanediol (20G-A), R-1,3-Butanediol (30G-A), R-1,3-Butanediol (30G-B)
Dietary Supplement
Lead sponsor
Abramson Cancer Center at Penn Medicine
Other
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 16, 2026 · Synced Oct 21, 2026, 2:36 AM EDT
Recruiting Phase 2 Interventional

Minimizing Toxicity in HLA-identical Sibling Donor Transplantation for Children With Sickle Cell Disease

NCT03587272
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Alemtuzumab, low dose total body irradiation, Sirolimus
Drug
Lead sponsor
Robert Nickel
Other
Eligibility
2 Years to 25 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2030
U.S. locations
5
States / cities
Washington D.C., District of Columbia • Chicago, Illinois • New York, New York + 2 more
Source: ClinicalTrials.gov public record
Updated Mar 10, 2026 · Synced Oct 21, 2026, 2:36 AM EDT
Completed No phase listed Observational Results available

Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact

NCT01688895
View directory record Official record
Conditions
Erythropoietic Protoporphyria, EPP, X-Linked Protoporphyria, XLP, XLPP, X-Linked Dominant Erythropoietic Protoporphyria, XLEPP, XLDP
Interventions
Not listed
Lead sponsor
Icahn School of Medicine at Mount Sinai
Other
Eligibility
Not listed
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2019
U.S. locations
6
States / cities
Birmingham, Alabama • San Francisco, California • New York, New York + 3 more
Source: ClinicalTrials.gov public record
Updated Apr 17, 2020 · Synced Oct 21, 2026, 2:36 AM EDT
Recruiting Not applicable Interventional

The Diaphragmatic Initiated Ventilatory Assist (DIVA) Trial

NCT05446272
View directory record Official record
Conditions
Extubation Failure, Bronchopulmonary Dysplasia, Death
Interventions
NIV-NAVA, NS-NIPPV
Device
Lead sponsor
University of Pennsylvania
Other
Eligibility
0 Days to 9 Weeks
Enrollment
478 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
17
States / cities
Little Rock, Arkansas • Loma Linda, California • San Diego, California + 14 more
Source: ClinicalTrials.gov public record
Updated Jun 25, 2026 · Synced Oct 21, 2026, 2:36 AM EDT