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ClinicalTrials.gov public records Last synced Oct 27, 2026, 8:30 AM EDT

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

Showing 1345–1368 of 8,011 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetics/Birth Defects Clear all
Completed Not applicable Interventional Results available

Massive Iron Deposit Assessment

NCT01572922
View directory record Official record
Conditions
Iron Overload, Excessive Body Iron Burden
Interventions
R2*-UTE, R2*-GRE, Liver biopsy
Device · Procedure
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
Not listed
Enrollment
142 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2018
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Jun 11, 2019 · Synced Oct 27, 2026, 8:30 AM EDT
Not listed No phase listed Observational

Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS)

NCT02180451
View directory record Official record
Conditions
Smith Magenis Syndrome
Interventions
Not listed
Lead sponsor
Vanda Pharmaceuticals
Industry
Eligibility
6 Years to 50 Years
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2017
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 25, 2016 · Synced Oct 27, 2026, 8:30 AM EDT
Completed No phase listed Observational

Natural History of the Progression of Choroideremia Study

NCT03359551
View directory record Official record
Conditions
Choroideremia
Interventions
Not listed
Lead sponsor
NightstaRx Ltd, a Biogen Company
Other
Eligibility
18 Years and older · Male only
Enrollment
319 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2020
U.S. locations
7
States / cities
Los Angeles, California • Miami, Florida • Baltimore, Maryland + 4 more
Source: ClinicalTrials.gov public record
Updated Feb 10, 2023 · Synced Oct 27, 2026, 8:30 AM EDT
Completed Phase 2 Interventional Results available

RDEA3170 and Febuxostat Combination Study in Gout Subjects

NCT02246673
View directory record Official record
Conditions
Gout
Interventions
RDEA3170 15 mg, RDEA3170 10 mg, RDEA3170 2.5, RDEA3170 5 mg, Febuxostat 40 mg, Febuxostat 80 mg
Drug
Lead sponsor
Ardea Biosciences, Inc.
Industry
Eligibility
18 Years to 75 Years
Enrollment
64 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
6
States / cities
Anaheim, California • Glendale, California • South Miami, Florida + 2 more
Source: ClinicalTrials.gov public record
Updated Jul 27, 2017 · Synced Oct 27, 2026, 8:30 AM EDT
Terminated Phase 4 Interventional Results available

Trial to Evaluate the Long-term Efficacy of Oral Aripiprazole in the Treatment of Pediatric Participants With Tourette's Disorder

NCT03661983
View directory record Official record
Conditions
Tourette's Disorder (TD)
Interventions
Aripiprazole, Placebo
Drug
Lead sponsor
Otsuka Pharmaceutical Development & Commercialization, Inc.
Industry
Eligibility
6 Years to 17 Years
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
38
States / cities
Anaheim, California • Riverside, California • Santa Ana, California + 30 more
Source: ClinicalTrials.gov public record
Updated Mar 9, 2021 · Synced Oct 27, 2026, 8:30 AM EDT
Recruiting No phase listed Observational

Glycogen Storage Disease Type Ia (GSDIa) Disease Monitoring Program

NCT06636383
View directory record Official record
Conditions
Glycogen Storage Disease Type Ia
Interventions
No Intervention
Other
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
2 Years and older
Enrollment
140 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2036
U.S. locations
9
States / cities
Orange, California • Denver, Colorado • Hartford, Connecticut + 6 more
Source: ClinicalTrials.gov public record
Updated Oct 14, 2026 · Synced Oct 27, 2026, 8:30 AM EDT
Withdrawn No phase listed Observational

International Registry for Primary Hyperoxaluria

NCT00875823
View directory record Official record
Conditions
Primary Hyperoxaluria, Nephrocalcinosis, Kidney Stones
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
Not listed
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2009
U.S. locations
4
States / cities
Los Angeles, California • Sacramento, California • Chicago, Illinois + 1 more
Source: ClinicalTrials.gov public record
Updated Apr 7, 2015 · Synced Oct 27, 2026, 8:30 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Zinc Homeostasis and Kinetics in Children With Cystic Fibrosis (CF)

NCT00104494
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Zinc acetate (20mg/d)
Drug
Lead sponsor
Cystic Fibrosis Foundation
Other
Eligibility
8 Years to 14 Years
Enrollment
30 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2004 – 2007
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jul 30, 2015 · Synced Oct 27, 2026, 8:30 AM EDT
Active, not recruiting Phase 2 Interventional Accepts healthy volunteers Results available

Nonmyeloablative Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Sickle Cell Disease and Beta-thalassemia in People With Higher Risk of Transplant Failure

NCT02105766
View directory record Official record
Conditions
Sickle Cell Disease, Thalassemia, Stem Cell Transplantation, Graft vs Host Disease
Interventions
Alemtuzumab, Sirolimus, Cyclophosphamide, Pentostatin, Radiotherapy, Filgrastim
Drug · Procedure
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
4 Years to 80 Years
Enrollment
56 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 18, 2026 · Synced Oct 27, 2026, 8:30 AM EDT
Completed Phase 4 Interventional Results available

Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome

NCT00266656
View directory record Official record
Conditions
Turner Syndrome
Interventions
Humatrope
Drug
Lead sponsor
Eli Lilly and Company
Industry
Eligibility
4 Years to 20 Years · Female only
Enrollment
69 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2015
U.S. locations
9
States / cities
Los Angeles, California • Aurora, Colorado • Hartford, Connecticut + 6 more
Source: ClinicalTrials.gov public record
Updated Mar 31, 2017 · Synced Oct 27, 2026, 8:30 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Vitamin D Metabolism and the Williams Syndrome

NCT00013962
View directory record Official record
Conditions
Williams Syndrome
Interventions
Vitamin D
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
18 Years to 50 Years
Healthy volunteers
Accepts healthy volunteers
U.S. locations
1
States / cities
Charleston, South Carolina
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 27, 2026, 8:30 AM EDT
Completed Phase 4 Interventional Results available

Human Factors Study to Validate the User Interface of TOBI Podhaler Using Placebo Capsules

NCT03502070
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Placebo, Tobi Podhaler
Drug · Device
Lead sponsor
Mylan Inc.
Industry
Eligibility
6 Years and older
Enrollment
47 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
9
States / cities
Miami, Florida • Orlando, Florida • Pensacola, Florida + 4 more
Source: ClinicalTrials.gov public record
Updated Mar 3, 2022 · Synced Oct 27, 2026, 8:30 AM EDT
Completed Phase 2Phase 3 Interventional

To Study the Efficacy & Safety of Oral NA-921 (Bionetide) in Girls and Women with Rett Syndrome

NCT06849973
View directory record Official record
Conditions
Rett Syndrome
Interventions
Drug: Bionetide, Placebo
Drug
Lead sponsor
Biomed Industries, Inc.
Industry
Eligibility
5 Years to 20 Years · Female only
Enrollment
187 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2025
U.S. locations
12
States / cities
La Jolla, California • Los Angeles, California • Sacramento, California + 9 more
Source: ClinicalTrials.gov public record
Updated Feb 27, 2025 · Synced Oct 27, 2026, 8:30 AM EDT
Terminated Phase 2 Interventional Results available

Study of Genistein in Pediatric Oncology Patients (UVA-Gen001)

NCT02624388
View directory record Official record
Conditions
Lymphoma, Childhood Lymphoma, Solid Tumor, Childhood Solid Tumor, Neuroblastoma, Ewing Sarcoma, Hodgkin Lymphoma, Non-Hodgkin Lymphoma, Rhabdomyosarcoma, Soft Tissue Sarcoma, Medulloblastoma, Germ Cell Tumor, Wilms Tumor, Brain Neoplasms, Medulloblastoma, Childhood, Neuroectodermal Tumors, Primitive
Interventions
Genistein, Placebo
Drug
Lead sponsor
University of Virginia
Other
Eligibility
1 Year to 21 Years
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2021
U.S. locations
1
States / cities
Charlottesville, Virginia
Source: ClinicalTrials.gov public record
Updated May 6, 2024 · Synced Oct 27, 2026, 8:30 AM EDT
Completed Phase 2 Interventional

Phase 2b Evaluation of Efficacy and Safety of AR882 in Gout Patients

NCT05119686
View directory record Official record
Conditions
Gout, Arthritis, Gouty, Hyperuricemia, Gout Chronic
Interventions
AR882 Dose 1, AR882 Dose 2, Placebo
Drug
Lead sponsor
Arthrosi Therapeutics
Industry
Eligibility
18 Years to 75 Years
Enrollment
140 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
16
States / cities
Gilbert, Arizona • Sun City, Arizona • Tucson, Arizona + 12 more
Source: ClinicalTrials.gov public record
Updated May 12, 2023 · Synced Oct 27, 2026, 8:30 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Integrative Medicine for Hypermobility Spectrum Disorder and Ehlers-Danlos Syndromes (IMforHSDandEDS)

NCT04734041
View directory record Official record
Conditions
Ehlers-Danlos Syndrome, Hypermobile EDS (hEDS), Hypermobility Syndrome, EDS
Interventions
Anti-inflammatory (Mediterranean-style) diet, Behavioral and psychosocial support
Behavioral
Lead sponsor
National University of Natural Medicine
Other
Eligibility
18 Years to 65 Years
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2021
U.S. locations
2
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Jul 15, 2021 · Synced Oct 27, 2026, 8:30 AM EDT
Not listed Not applicable Interventional

Overcoming Barriers to Accessing Genetic Medicine

NCT05064241
View directory record Official record
Conditions
Genetic Disease, Genetic Predisposition
Interventions
Access to Genetic Counselor for answering questions
Other
Lead sponsor
Boston Children's Hospital
Other
Eligibility
18 Years and older
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jul 3, 2024 · Synced Oct 27, 2026, 8:30 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Study to Evaluate ASN008 Topical Gel (TG)

NCT03798561
View directory record Official record
Conditions
Dermatitis, Atopic, Pruritus, Dermatitis Eczema
Interventions
ASN008 TG, Placebo TG
Drug
Lead sponsor
Asana BioSciences
Industry
Eligibility
18 Years to 65 Years
Enrollment
24 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2020
U.S. locations
4
States / cities
Cortland, New York • High Point, North Carolina • San Antonio, Texas + 1 more
Source: ClinicalTrials.gov public record
Updated May 9, 2023 · Synced Oct 27, 2026, 8:30 AM EDT
Not listed No phase listed Observational

Personalized Prediction of Tolerance and Immunogenicity in Hemophilia

NCT01626105
View directory record Official record
Conditions
Hemophilia A
Interventions
Not listed
Lead sponsor
Victor J Marder, M.D.
Other
Eligibility
2 Years and older · Male only
Enrollment
55 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2014
U.S. locations
1
States / cities
Detroit, Michigan
Source: ClinicalTrials.gov public record
Updated Jul 26, 2012 · Synced Oct 27, 2026, 8:30 AM EDT
Active, not recruiting Phase 3 Interventional

A Pivotal Study of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T)

NCT06673056
View directory record Official record
Conditions
Ataxia-Telangiectasia, Ataxia-Telangiectasia (A-T)
Interventions
N-Acetyl-L-Leucine, Placebo
Drug · Other
Lead sponsor
IntraBio Inc
Industry
Eligibility
4 Years and older
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
3
States / cities
Los Angeles, California • Boston, Massachusetts • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jul 3, 2025 · Synced Oct 27, 2026, 8:30 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Study of Genetic Risk Factors for Spina Bifida and Anencephaly

NCT00031122
View directory record Official record
Conditions
Spina Bifida, Anencephaly
Interventions
No Intervention
Other
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
1,100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2000 – 2012
U.S. locations
2
States / cities
Philadelphia, Pennsylvania • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Oct 5, 2010 · Synced Oct 27, 2026, 8:30 AM EDT
Terminated Phase 1 Interventional

PF-07284892 in Participants With Advanced Solid Tumors

NCT04800822
View directory record Official record
Conditions
Solid Tumor
Interventions
PF-07284892, lorlatinib, binimetinib, cetuximab, encorafenib
Drug · Biological
Lead sponsor
Pfizer
Industry
Eligibility
18 Years and older
Enrollment
53 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
11
States / cities
Phoenix, Arizona • Scottsdale, Arizona • Detroit, Michigan + 6 more
Source: ClinicalTrials.gov public record
Updated Jun 4, 2026 · Synced Oct 27, 2026, 8:30 AM EDT
Active, not recruiting Phase 2 Interventional Results available

Selpercatinib for the Treatment of Advanced Solid Tumors, Lymphomas, or Histiocytic Disorders With Activating RET Gene Alterations, a Pediatric MATCH Treatment Trial

NCT04320888
View directory record Official record
Conditions
Hematopoietic and Lymphatic System Neoplasm, Recurrent Ependymoma, Recurrent Ewing Sarcoma, Recurrent Hepatoblastoma, Recurrent Histiocytic and Dendritic Cell Neoplasm, Recurrent Langerhans Cell Histiocytosis, Recurrent Lymphoma, Recurrent Malignant Germ Cell Tumor, Recurrent Malignant Glioma, Recurrent Malignant Solid Neoplasm, Recurrent Medulloblastoma, Recurrent Neuroblastoma, Recurrent Non-Hodgkin Lymphoma, Recurrent Osteosarcoma, Recurrent Peripheral Primitive Neuroectodermal Tumor, Recurrent Rhabdoid Tumor, Recurrent Rhabdomyosarcoma, Recurrent Soft Tissue Sarcoma, Recurrent WHO Grade 2 Glioma, Refractory Ependymoma, Refractory Ewing Sarcoma, Refractory Hepatoblastoma, Refractory Histiocytic and Dendritic Cell Neoplasm, Refractory Langerhans Cell Histiocytosis, Refractory Lymphoma, Refractory Malignant Germ Cell Tumor, Refractory Malignant Glioma, Refractory Malignant Solid Neoplasm, Refractory Medulloblastoma, Refractory Neuroblastoma, Refractory Non-Hodgkin Lymphoma, Refractory Osteosarcoma, Refractory Peripheral Primitive Neuroectodermal Tumor, Refractory Rhabdoid Tumor, Refractory Rhabdomyosarcoma, Refractory Soft Tissue Sarcoma, Refractory WHO Grade 2 Glioma, Wilms Tumor
Interventions
Computed Tomography, Magnetic Resonance Imaging, Positron Emission Tomography, Radionuclide Imaging, Selpercatinib, X-Ray Imaging
Procedure · Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
12 Months to 21 Years
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
172
States / cities
Birmingham, Alabama • Anchorage, Alaska • Mesa, Arizona + 129 more
Source: ClinicalTrials.gov public record
Updated Oct 9, 2026 · Synced Oct 27, 2026, 8:30 AM EDT
Completed No phase listed Observational

Positional Cloning of the Gene(s) Responsible for Alagille Syndrome

NCT00001642
View directory record Official record
Conditions
Alagille Syndrome
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
225 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1997 – 2000
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 27, 2026, 8:30 AM EDT