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ClinicalTrials.gov public records Last synced Oct 20, 2026, 7:38 PM EDT

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Showing 1–24 of 10,538 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Congenital Disorders Clear all
Completed Phase 1Phase 2 Interventional Results available

A First in Human Study of RT001 in Patients With Friedreich's Ataxia

NCT02445794
View directory record Official record
Conditions
Friedreich's Ataxia
Interventions
Low dose cohort, High dose cohort
Drug
Lead sponsor
Biojiva LLC
Industry
Eligibility
18 Years to 50 Years
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
2
States / cities
Long Beach, California • Tampa, Florida
Source: ClinicalTrials.gov public record
Updated Nov 27, 2020 · Synced Oct 20, 2026, 7:38 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Cytoxan, Fludara, and Antithymocyte Globulin Conditioning Followed By Stem Cell Transplant in Treating Fanconi Anemia

NCT00630253
View directory record Official record
Conditions
Fanconi Anemia
Interventions
Anti-Thymocyte Globulin, Cyclophosphamide, Fludarabine, Hematopoietic Stem Cell Transplantation, Methylprednisolone, Filgrastim, Cyclosporine, Mycophenolate Mofetil
Biological · Drug · Procedure
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 59 Years
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2020
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Oct 12, 2021 · Synced Oct 20, 2026, 7:38 PM EDT
Not yet recruiting Phase 1 Interventional

High-Dose Vitamin C in G6PDA and Pyruvate Kinase Deficiency: A Safety Study

NCT07612345
View directory record Official record
Conditions
Pyruvate Kinase Deficiency, Glucose 6 Phosphate Dehydrogenase Deficiency
Interventions
Vitamin C
Drug
Lead sponsor
University of Utah
Other
Eligibility
18 Years and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
1
States / cities
Salt Lake City, Utah
Source: ClinicalTrials.gov public record
Updated May 28, 2026 · Synced Oct 20, 2026, 7:38 PM EDT
Completed No phase listed Observational

Neurologic Complications in Spinal Deformity Surgery - Extension

NCT02949245
View directory record Official record
Conditions
Adult Spinal Deformity
Interventions
Interventions
Procedure
Lead sponsor
AO Foundation, AO Spine
Other
Eligibility
18 Years to 80 Years
Enrollment
77 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
5
States / cities
San Francisco, California • Baltimore, Maryland • St Louis, Missouri + 2 more
Source: ClinicalTrials.gov public record
Updated May 19, 2020 · Synced Oct 20, 2026, 7:38 PM EDT
Recruiting Phase 2 Interventional

Cognitive Remediation Intervention to Prepare for Transition of Care

NCT05336201
View directory record Official record
Conditions
Sickle Cell Disease, Cognitive Impairment, Adolescent Behavior, Self Efficacy, Health-Related Behavior, Coping Skills
Interventions
CREADY (Cognitive-Remediation of Executive and Adaptive Deficits in Youth)
Behavioral
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
10 Years to 18 Years
Enrollment
120 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
Birmingham, Alabama
Source: ClinicalTrials.gov public record
Updated Feb 27, 2026 · Synced Oct 20, 2026, 7:38 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

A Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-946 in Healthy Volunteers and in Participants With Sickle Cell Disease

NCT04536792
View directory record Official record
Conditions
Healthy Volunteers, Anemia, Sickle Cell
Interventions
AG-946, AG-946 Matched Placebo
Drug
Lead sponsor
Agios Pharmaceuticals, Inc.
Industry
Eligibility
18 Years to 70 Years
Enrollment
122 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2023
U.S. locations
8
States / cities
La Jolla, California • Boston, Massachusetts • New York, New York + 4 more
Source: ClinicalTrials.gov public record
Updated Apr 16, 2024 · Synced Oct 20, 2026, 7:38 PM EDT
Completed Not applicable Interventional Results available

Analgesic Efficacy After Umbilical Hernia Repair in Children

NCT00578136
View directory record Official record
Conditions
Umbilical Hernia
Interventions
Bupivacaine
Drug
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
5 Years to 17 Years
Enrollment
52 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2011
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 15, 2014 · Synced Oct 20, 2026, 7:38 PM EDT
Completed Phase 3 Interventional Results available

Safety of Monthly Recombinant Factor XIII Replacement Therapy in Subjects With Congenital Factor XIII Deficiency: An Extension to Trial F13CD-1725

NCT00978380
View directory record Official record
Conditions
Congenital Bleeding Disorder, Congenital FXIII Deficiency
Interventions
catridecacog
Drug
Lead sponsor
Novo Nordisk A/S
Industry
Eligibility
6 Years and older
Enrollment
63 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2015
U.S. locations
12
States / cities
Orange, California • Washington D.C., District of Columbia • Tampa, Florida + 9 more
Source: ClinicalTrials.gov public record
Updated Jan 24, 2018 · Synced Oct 20, 2026, 7:38 PM EDT
Completed Phase 2 Interventional

Non-Ablative Allo HSCT For Hematologic Malignancies or SAA

NCT00006379
View directory record Official record
Conditions
Chronic Myeloproliferative Disorders, Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes, Myelodysplastic/Myeloproliferative Diseases, Precancerous/Nonmalignant Condition, Small Intestine Cancer
Interventions
anti-thymocyte globulin, graft-versus-tumor induction therapy, cyclophosphamide, fludarabine phosphate, peripheral blood stem cell transplantation
Biological · Drug · Procedure
Lead sponsor
Case Comprehensive Cancer Center
Other
Eligibility
Up to 70 Years
Enrollment
58 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2011
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Dec 8, 2011 · Synced Oct 20, 2026, 7:38 PM EDT
Active, not recruiting No phase listed Observational

Longitudinal Evaluation of Active-Duty Personnel with Accessory Pathways (LEAD-AP)

NCT06798961
View directory record Official record
Conditions
Cardiac Death, Cardiac Death, Sudden, Wolf Parkinson White Syndrome
Interventions
Ablation, Standard of care without ablation
Procedure
Lead sponsor
United States Naval Medical Center, San Diego
Federal
Eligibility
18 Years to 40 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2025
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Mar 14, 2025 · Synced Oct 20, 2026, 7:38 PM EDT
Active, not recruiting Phase 3 Interventional

ZIP Study-OL Study of Safety, PK, Efficacy, PD, Immunogenicity of ATB200/AT2221 in Pediatrics Aged 0 to < 18 y.o. w/LOPD

NCT03911505
View directory record Official record
Conditions
Pompe Disease (Late-onset)
Interventions
Cipaglucosidase Alfa, Miglustat
Biological · Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
0 Years to 17 Years
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2027
U.S. locations
9
States / cities
Gainesville, Florida • Jacksonville, Florida • Atlanta, Georgia + 6 more
Source: ClinicalTrials.gov public record
Updated Sep 17, 2026 · Synced Oct 20, 2026, 7:38 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Retinal Imaging in Patients With Inherited Retinal Degenerations

NCT00254605
View directory record Official record
Conditions
Retinitis Pigmentosa
Interventions
Not listed
Lead sponsor
University of California, San Francisco
Other
Eligibility
13 Years and older
Enrollment
400 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2028
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Jun 5, 2026 · Synced Oct 20, 2026, 7:38 PM EDT
Not listed Not applicable Interventional

Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders

NCT00006056
View directory record Official record
Conditions
Chediak-Higashi Syndrome, Graft Versus Host Disease, X-Linked Lymphoproliferative Syndrome, Familial Erythrophagocytic Lymphohistiocytosis, Hemophagocytic Lymphohistiocytosis, Virus-Associated Hemophagocytic Syndrome
Interventions
anti-thymocyte globulin, busulfan, cyclophosphamide, cyclosporine, etoposide, filgrastim, methotrexate, allogeneic hematopoietic stem cell transplantation
Drug · Procedure
Lead sponsor
Fairview University Medical Center
Other
Eligibility
0 Years to 55 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 20, 2026, 7:38 PM EDT
Completed No phase listed Observational

Natural History and Functional Status Study of Patients With Lafora Disease

NCT03876522
View directory record Official record
Conditions
Lafora Disease
Interventions
Not listed
Lead sponsor
Ionis Pharmaceuticals, Inc.
Industry
Eligibility
5 Years and older
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
2
States / cities
Los Angeles, California • Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Sep 28, 2022 · Synced Oct 20, 2026, 7:38 PM EDT
Recruiting No phase listed Observational

National Collaborative to Improve Care of Children With Complex Congenital Heart Disease

NCT02852031
View directory record Official record
Conditions
Hypoplastic Left Heart Syndrome (HLHS)
Interventions
Collaborative Learning Network
Other
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
Up to 15 Months
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2028
U.S. locations
61
States / cities
Birmingham, Alabama • Phoenix, Arizona • Little Rock, Arkansas + 53 more
Source: ClinicalTrials.gov public record
Updated Jun 19, 2025 · Synced Oct 20, 2026, 7:38 PM EDT
Completed Phase 3 Interventional Results available

A Study of Fitusiran (ALN-AT3SC) in Severe Hemophilia A and B Patients Without Inhibitors

NCT03417245
View directory record Official record
Conditions
Hemophilia A, Hemophilia B
Interventions
fitusiran, factor concentrates
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
12 Years and older · Male only
Enrollment
120 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2021
U.S. locations
8
States / cities
Little Rock, Arkansas • Gainesville, Florida • Tampa, Florida + 5 more
Source: ClinicalTrials.gov public record
Updated Mar 28, 2022 · Synced Oct 20, 2026, 7:38 PM EDT
Completed Phase 2 Interventional Results available

Placebo-Controlled, Single-Dose Challenge Study of Gaboxadol in Adult Males With Fragile X Syndrome (FXS)

NCT06334419
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Gaboxadol, Placebo
Drug
Lead sponsor
Craig Erickson
Other
Eligibility
18 Years to 40 Years · Male only
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2025
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Sep 30, 2026 · Synced Oct 20, 2026, 7:38 PM EDT
Terminated Not applicable Interventional

A Prospective Study of NuCel® in Cervical Spine Fusion

NCT02381067
View directory record Official record
Conditions
Spondylosis, Spinal Stenosis, Spondylolisthesis, Intervertebral Disc Disease, Intervertebral Disc Degeneration
Interventions
NuCel with Allograft Bone
Other
Lead sponsor
NuTech Medical, Inc
Industry
Eligibility
21 Years and older
Enrollment
61 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
1
States / cities
Marietta, Georgia
Source: ClinicalTrials.gov public record
Updated Jan 18, 2020 · Synced Oct 20, 2026, 7:38 PM EDT
Completed Not applicable Interventional

Voriconazole Compared With Itraconazole in Preventing Fungal Infections in Patients Undergoing Allogeneic Hematopoietic Stem Cell Transplantation

NCT00079222
View directory record Official record
Conditions
Cancer
Interventions
itraconazole, voriconazole
Drug
Lead sponsor
Jonsson Comprehensive Cancer Center
Other
Eligibility
12 Years to 120 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2003
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Aug 3, 2020 · Synced Oct 20, 2026, 7:38 PM EDT
Recruiting No phase listed Observational

Prospective Evaluation of Treatment for Clubfoot

NCT02257229
View directory record Official record
Conditions
Clubfoot Deformity
Interventions
Surgical, Non-Surgical, Non-surgical + surgical
Procedure
Lead sponsor
Texas Scottish Rite Hospital for Children
Other
Eligibility
Up to 18 Years
Enrollment
2,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2029
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated May 4, 2025 · Synced Oct 20, 2026, 7:38 PM EDT
Not listed Not applicable Interventional

Fetal Growth Restriction: Management Using Two Guidelines - Fetal Growth Antenatal Management Evaluation

NCT05938829
View directory record Official record
Conditions
Fetal Growth Retardation
Interventions
Ultrasound following the SMFM guidelines, Ultrasound following the ISUOG guidelines
Other
Lead sponsor
The University of Texas Health Science Center, Houston
Other
Eligibility
Not listed
Enrollment
1,100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jul 11, 2023 · Synced Oct 20, 2026, 7:38 PM EDT
Completed Phase 2 Interventional

Donor Bone Marrow Transplant in Treating Patients With Leukemia, Lymphoma, or Nonmalignant Hematologic Disorders

NCT00005622
View directory record Official record
Conditions
Chronic Myeloproliferative Disorders, Leukemia, Multiple Myeloma and Malignant Plasma Cell Neoplasms, Myelodysplastic Syndromes, Myelodysplastic/Myeloproliferative Neoplasms
Interventions
cyclophosphamide, TBI
Drug · Radiation
Lead sponsor
H. Lee Moffitt Cancer Center and Research Institute
Other
Eligibility
15 Years to 50 Years
Enrollment
72 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1996 – 2009
U.S. locations
1
States / cities
Tampa, Florida
Source: ClinicalTrials.gov public record
Updated Oct 25, 2012 · Synced Oct 20, 2026, 7:38 PM EDT
Terminated No phase listed Observational

Oxidative Stress, Inflammation and Acute Decompensation in Urea Cycle Disorders

NCT01541722
View directory record Official record
Conditions
Urea Cycle Disorders
Interventions
Not listed
Lead sponsor
Mark Batshaw
Other
Eligibility
Not listed
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
10
States / cities
Los Angeles, California • Aurora, Colorado • Washington D.C., District of Columbia + 7 more
Source: ClinicalTrials.gov public record
Updated Oct 2, 2015 · Synced Oct 20, 2026, 7:38 PM EDT
Completed Phase 4 Interventional Accepts healthy volunteers Results available

GLASSIA Infusion Rate Study

NCT01651351
View directory record Official record
Conditions
Alpha1-antitrypsin Deficiency, Healthy Volunteers
Interventions
Alpha1-proteinase inhibitor, Placebo: Human albumin 2.5%
Biological
Lead sponsor
Baxalta now part of Shire
Industry
Eligibility
18 Years to 65 Years
Enrollment
30 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2013
U.S. locations
1
States / cities
Overland Park, Kansas
Source: ClinicalTrials.gov public record
Updated May 25, 2021 · Synced Oct 20, 2026, 7:38 PM EDT