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Showing 1–24 of 9,312 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Genetic Disorders Clear all
Active, not recruiting Not applicable Interventional

DNA Sequencing in Clinical Practice, Mayo Clinic Health Tapestry Study

NCT05212428
View directory record Official record
Conditions
Genetic Disorder
Interventions
Biospecimen Collection, Diagnostic Laboratory Biomarker Analysis, Genetic Counseling, Questionnaire Administration
Procedure · Other
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
110,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2029
U.S. locations
3
States / cities
Scottsdale, Arizona • Jacksonville, Florida • Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Jun 9, 2026 · Synced Jul 21, 2026, 9:50 AM EDT
Completed No phase listed Observational

Using Positron Emission Tomography to Predict Intracranial Tumor Growth in Neurofibromatosis Type II Patients

NCT01222728
View directory record Official record
Conditions
Neoplasms, Nervous System Disease, Vestibular Disease
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
18 Years to 50 Years
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2015
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 16, 2019 · Synced Jul 21, 2026, 9:50 AM EDT
Completed No phase listed Observational

Association of Genes to Resistance to Weight Loss in Obese Patients

NCT00858221
View directory record Official record
Conditions
Obesity, Metabolic Syndrome, Dyslipidemia
Interventions
Not listed
Lead sponsor
Interleukin Genetics, Inc.
Industry
Eligibility
21 Years to 70 Years
Enrollment
824 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
1
States / cities
Danville, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 19, 2009 · Synced Jul 21, 2026, 9:50 AM EDT
Active, not recruiting Phase 3 Interventional

A Study to Assess the Long-Term Safety and Efficacy of Donidalorsen in the Prophylactic Treatment of Hereditary Angioedema (HAE)

NCT05392114
View directory record Official record
Conditions
Hereditary Angioedema
Interventions
Donidalorsen
Drug
Lead sponsor
Ionis Pharmaceuticals, Inc.
Industry
Eligibility
12 Years and older
Enrollment
154 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
16
States / cities
Paradise Valley, Arizona • La Jolla, California • Santa Monica, California + 13 more
Source: ClinicalTrials.gov public record
Updated Dec 11, 2025 · Synced Jul 21, 2026, 9:50 AM EDT
Not yet recruiting Not applicable Interventional

Decision Support Tool to Enhance Germline Genetic Testing for Patients With Prostate Cancer

NCT07377006
View directory record Official record
Conditions
Prostate Carcinoma
Interventions
Behavioral Intervention, Biospecimen Collection, Electronic Health Record Review, Genetic Counseling, Genetic Testing, Interview, Survey Administration
Behavioral · Procedure · Other
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
18 Years and older · Male only
Enrollment
108 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2030
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Feb 17, 2026 · Synced Jul 21, 2026, 9:50 AM EDT
Not listed No phase listed Observational

Studying Breast Cancer Risk in Women Who Are BRCA1/BRCA2 Mutation Carriers

NCT00897455
View directory record Official record
Conditions
brca1 Mutation Carrier, brca2 Mutation Carrier, Breast Cancer
Interventions
DNA analysis, mutation analysis, polymorphism analysis, laboratory biomarker analysis, evaluation of cancer risk factors
Genetic · Other · Procedure
Lead sponsor
Gynecologic Oncology Group
Network
Eligibility
18 Years to 80 Years · Female only
Enrollment
10,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2008
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 22, 2011 · Synced Jul 21, 2026, 9:50 AM EDT
Recruiting No phase listed Observational

A Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU (PALace)

NCT05813678
View directory record Official record
Conditions
Phenylketonuria (PKU)
Interventions
Pegvaliase
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Not listed
Enrollment
450 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2033
U.S. locations
12
States / cities
Aurora, Colorado • Atlanta, Georgia • Chicago, Illinois + 9 more
Source: ClinicalTrials.gov public record
Updated Mar 24, 2026 · Synced Jul 21, 2026, 9:50 AM EDT
Completed Phase 3 Interventional Results available

PLUTO: Pediatric Lipid-redUction Trial of rOsuvastatin

NCT00355615
View directory record Official record
Conditions
Familial Hypercholesterolemia
Interventions
Rosuvastatin, Placebo
Drug
Lead sponsor
AstraZeneca
Industry
Eligibility
10 Years to 17 Years
Enrollment
173 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2008
U.S. locations
4
States / cities
Los Angeles, California • Hyde Park, New York • Cincinnati, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Aug 30, 2011 · Synced Jul 21, 2026, 9:50 AM EDT
Recruiting Phase 2 Interventional Accepts healthy volunteers

Relationship Between Abnormal Myocardial Perfusion and Diastolic Dysfunction in Sickle Cell Disease Using PET

NCT05583721
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
[13N]NH3, Lexiscan, Positron emission tomography
Drug · Diagnostic Test
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
18 Years to 21 Years
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2028
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated May 5, 2026 · Synced Jul 21, 2026, 9:50 AM EDT
Completed Phase 2 Interventional Results available

Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204)

NCT01998633
View directory record Official record
Conditions
Hemophagocytic Lymphohistiocytosis, Chronic Active Epstein-Barr Virus Infection, Chronic Granulomatous Disease, HIGM-1, Leukocyte Adhesion Deficiency, IPEX
Interventions
Hematopoietic Stem Cell Transplant
Biological
Lead sponsor
Medical College of Wisconsin
Other
Eligibility
4 Months to 45 Years
Enrollment
47 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2016
U.S. locations
19
States / cities
Birmingham, Alabama • Washington D.C., District of Columbia • Atlanta, Georgia + 16 more
Source: ClinicalTrials.gov public record
Updated Dec 7, 2022 · Synced Jul 21, 2026, 9:50 AM EDT
Suspended Not applicable Interventional

Warfarin Adverse Event Reduction For Adults Receiving Genetic Testing at Therapy INitiation (WARFARIN)

NCT01305148
View directory record Official record
Conditions
Anti-coagulation Therapy, DVT, Pulmonary Embolism, Joint Surgery Multiple, Atrial Fibrillation, Prosthetic Replacement of Mitral Valve
Interventions
Warfarin GenoSTAT Test
Device
Lead sponsor
Iverson Genetic Diagnostics, Inc.
Industry
Eligibility
65 Years and older
Enrollment
3,800 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2015
U.S. locations
56
States / cities
Birmingham, Alabama • Glendale, Arizona • Phoenix, Arizona + 51 more
Source: ClinicalTrials.gov public record
Updated Aug 30, 2015 · Synced Jul 21, 2026, 9:50 AM EDT
Terminated Not applicable Interventional Results available

Cystic Fibrosis and Urinary Incontinence

NCT04922255
View directory record Official record
Conditions
Urinary Incontinence, Cystic Fibrosis
Interventions
Reusable Underwear, Disposable urethral support, Pelvic floor physical therapy
Device · Behavioral
Lead sponsor
Megan Bradley
Other
Eligibility
18 Years to 99 Years · Female only
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 30, 2024 · Synced Jul 21, 2026, 9:50 AM EDT
Active, not recruiting Not applicable Interventional

Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1

NCT03820778
View directory record Official record
Conditions
Neurofibromatosis 1, Neurofibroma, Atypical Neurofibroma, Atypical Neurofibromatosis, Plexiform Neurofibroma, Von Recklinghausen Disease
Interventions
Whole Body MRI
Diagnostic Test
Lead sponsor
Children's National Research Institute
Other
Eligibility
8 Years to 30 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2022
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Mar 1, 2021 · Synced Jul 21, 2026, 9:50 AM EDT
Terminated Phase 1 Interventional

Study of TST005 in Patients With Locally Advanced or Metastatic Solid Tumors

NCT04958434
View directory record Official record
Conditions
Locally Advanced or Metastatic Cancers, Metastatic Human Papillomavirus-Related Malignant Neoplasm
Interventions
TST005
Drug
Lead sponsor
Suzhou Transcenta Therapeutics Co., Ltd.
Industry
Eligibility
18 Years and older
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
3
States / cities
Canton, Ohio • Dallas, Texas • San Antonio, Texas
Source: ClinicalTrials.gov public record
Updated Oct 22, 2023 · Synced Jul 21, 2026, 9:50 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Acoustic Waveform Respiratory Evaluation

NCT06512064
View directory record Official record
Conditions
Asthma, COPD, Cystic Fibrosis, Ciliary Motility Disorders, Bronchiectasis, Airway Malacia, Healthy Control
Interventions
AWARE
Diagnostic Test
Lead sponsor
Indiana University
Other
Eligibility
8 Years to 70 Years
Enrollment
800 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2029
U.S. locations
2
States / cities
Indianapolis, Indiana • Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 23, 2025 · Synced Jul 21, 2026, 9:50 AM EDT
Terminated Phase 2 Interventional Results available

N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)

NCT03759678
View directory record Official record
Conditions
Ataxia Telangiectasia
Interventions
IB1001
Drug
Lead sponsor
IntraBio Inc
Industry
Eligibility
6 Years and older
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2025
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Mar 24, 2026 · Synced Jul 21, 2026, 9:50 AM EDT
Completed No phase listed Observational

Medtronic Genetic Arrhythmia Markers for Early Detection (GAME Study)

NCT00664807
View directory record Official record
Conditions
Death, Sudden, Cardiac, Ventricular Fibrillation, Tachycardia, Atrial Fibrillation, Sick Sinus Syndrome
Interventions
Not listed
Lead sponsor
Medtronic Corporate Technologies and New Ventures
Industry
Eligibility
40 Years and older
Enrollment
1,023 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
1
States / cities
Little Rock, Arkansas
Source: ClinicalTrials.gov public record
Updated Aug 24, 2009 · Synced Jul 21, 2026, 9:50 AM EDT
Active, not recruiting Phase 2 Interventional

A Study to Test the Safety, Tolerability, and Efficacy of an Antibody, REGN7999, Injected Under the Skin for the Treatment of Iron Overload in Adult Participants With Non-Transfusion Dependent β-thalassemia, Using MRI Scans to Measure Iron Levels in the Body

NCT06421636
View directory record Official record
Conditions
Non-Transfusion Dependent Beta-Thalassemia (NTDT)
Interventions
REGN7999, Placebo
Drug
Lead sponsor
Regeneron Pharmaceuticals
Industry
Eligibility
18 Years to 65 Years
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 30, 2026 · Synced Jul 21, 2026, 9:50 AM EDT
Completed No phase listed Observational

Stigma, Self-management, & Quality of Life in SCD

NCT03488264
View directory record Official record
Conditions
Sickle Cell Disease, Quality of Life, Stigma, Social, Disease Self-Management
Interventions
Not listed
Lead sponsor
Duke University
Other
Eligibility
18 Years and older
Enrollment
102 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Apr 10, 2019 · Synced Jul 21, 2026, 9:50 AM EDT
Active, not recruiting Phase 2 Interventional

Leniolisib for Immune Dysregulation in PIDs

NCT06549114
View directory record Official record
Conditions
Primary Immunodeficiency Disorders (PIDs)
Interventions
Leniolisib
Drug
Lead sponsor
Pharming Technologies B.V.
Industry
Eligibility
12 Years to 75 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Feb 12, 2026 · Synced Jul 21, 2026, 9:50 AM EDT
Completed Phase 1Phase 2 Interventional Results available

A Gene Transfer Study for Hemophilia A

NCT03003533
View directory record Official record
Conditions
Hemophilia A
Interventions
SPK-8011
Genetic
Lead sponsor
Spark Therapeutics, Inc.
Industry
Eligibility
18 Years and older · Male only
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2023
U.S. locations
11
States / cities
Sacramento, California • Gainesville, Florida • Boston, Massachusetts + 7 more
Source: ClinicalTrials.gov public record
Updated Dec 29, 2024 · Synced Jul 21, 2026, 9:50 AM EDT
Completed No phase listed Observational

Gait Parameters of Persons With Down Syndrome With and Without Orthotics Using GaitRite

NCT01390558
View directory record Official record
Conditions
Down Syndrome
Interventions
custom orthotics
Procedure
Lead sponsor
Oregon Health and Science University
Other
Eligibility
2 Years to 80 Years
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2018
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Feb 14, 2019 · Synced Jul 21, 2026, 9:50 AM EDT
Completed Phase 1 Interventional

Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa

NCT00065455
View directory record Official record
Conditions
Retinitis Pigmentosa
Interventions
Vitamin A
Drug
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
18 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2009
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Jul 21, 2026, 9:50 AM EDT
Completed Phase 2 Interventional Results available

A Vehicle Controlled Study to Evaluate Safety and Efficacy of Topical TMB-001 for Treatment of Congenital Ichthyosis

NCT04154293
View directory record Official record
Conditions
Congenital Ichthyosis
Interventions
Isotretinoin, Vehicle
Drug · Other
Lead sponsor
LEO Pharma
Industry
Eligibility
9 Years and older
Enrollment
34 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
8
States / cities
Phoenix, Arizona • Palo Alto, California • New Haven, Connecticut + 5 more
Source: ClinicalTrials.gov public record
Updated May 21, 2026 · Synced Jul 21, 2026, 9:50 AM EDT