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ClinicalTrials.gov public records Last synced Oct 23, 2026, 6:29 AM EDT

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Showing 889–912 of 8,007 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetics/Birth Defects Clear all
Enrolling by invitation Phase 1 Interventional

Assessing the Efficacy of Repeat, Monthly Treatments of Deoxycholate for NF1 Associated Cutaneous Neurofibromas (cNFs)

NCT06300502
View directory record Official record
Conditions
Neurofibromas, Cutaneous, Neurofibromatosis 1
Interventions
Kybella
Drug
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years to 85 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 22, 2026 · Synced Oct 23, 2026, 6:29 AM EDT
Terminated No phase listed Observational

Establishing a Repository of Blood and DNA Samples From People With Sickle Cell Disease (Comprehensive Sickle Cell Centers Collaborative Genotype-Phenotype Database and Sample Repository)

NCT00528203
View directory record Official record
Conditions
Anemia, Sickle Cell
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
Not listed
Enrollment
3,640 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2008
U.S. locations
13
States / cities
Oakland, California • San Francisco, California • Boston, Massachusetts + 6 more
Source: ClinicalTrials.gov public record
Updated Jul 12, 2016 · Synced Oct 23, 2026, 6:29 AM EDT
Recruiting Early Phase 1 Interventional

Personalized Theratyping Trial

NCT03587961
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Symdeko
Drug
Lead sponsor
George Solomon
Other
Eligibility
6 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2027
U.S. locations
1
States / cities
Birmingham, Alabama
Source: ClinicalTrials.gov public record
Updated Feb 2, 2026 · Synced Oct 23, 2026, 6:29 AM EDT
Recruiting Early Phase 1 Interventional

Bimatoprost as a Treatment for Graves' Orbitopathy

NCT03708627
View directory record Official record
Conditions
Graves Ophthalmopathy
Interventions
Bimatoprost Ophthalmic
Drug
Lead sponsor
Johns Hopkins University
Other
Eligibility
18 Years and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2031
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Jul 16, 2026 · Synced Oct 23, 2026, 6:29 AM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Palliative Care Needs of Children With Rare Diseases and Their Families

NCT06938542
View directory record Official record
Conditions
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome, Early Infantile Epileptic Encephalopathy, FOXG1 Syndrome, KBG Syndrome, Noonan Syndrome, Severe Hemophilia A, Short Bowel Syndrome, Beta-Propeller Protein-Associated Neurodegeneration, Brain Injury of Prematurity With Periventricular Leukomalacia, Chromosome 17p13.3 Microdeletion Syndrome, Chromosome 1q43-1q44 Deletion, Cockayne Syndrome, Congenital Diaphragmatic Hernia, End-Stage Renal Disease With Cloacal Anomaly, Mitochondrial Depletion Disorder, Severe Factor VII Deficiency
Interventions
Family Centered pediatric palliative care for family caregivers of children with rare diseases.
Behavioral
Lead sponsor
Children's National Research Institute
Other
Eligibility
12 Months to 99 Years
Enrollment
480 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2029
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Jan 28, 2026 · Synced Oct 23, 2026, 6:29 AM EDT
Completed Not applicable Interventional

Intensive Dysarthria Sessions in Adults and Children With Down Syndrome

NCT01684670
View directory record Official record
Conditions
Dysarthria, Down Syndrome
Interventions
Speech sessions
Behavioral
Lead sponsor
Duke University
Other
Eligibility
8 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Nov 23, 2016 · Synced Oct 23, 2026, 6:29 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Universal Endometrial Cancer DNA Sequencing for Detection of Lynch Syndrome and Personalized Care

NCT03460483
View directory record Official record
Conditions
Endometrial Adenocarcinoma, Endometrial Carcinoma, Lynch Syndrome, Relatives
Interventions
Genetic Counseling, Genetic Testing, Laboratory Biomarker Analysis, Mutation Carrier Screening
Other · Procedure
Lead sponsor
Ohio State University Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Enrollment
1,001 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2025
U.S. locations
9
States / cities
Akron, Ohio • Canton, Ohio • Cincinnati, Ohio + 3 more
Source: ClinicalTrials.gov public record
Updated Oct 3, 2025 · Synced Oct 23, 2026, 6:29 AM EDT
Active, not recruiting Phase 3 Interventional Results available

Study to Evaluate the Efficacy and Safety of PF-07055480 / Giroctocogene Fitelparvovec Gene Therapy in Moderately Severe to Severe Hemophilia A Adults

NCT04370054
View directory record Official record
Conditions
Hemophilia A
Interventions
PF-07055480 (giroctocogene fitelparovec): Recombinant AAV2/6 Human Factor VIII Gene Therapy
Biological
Lead sponsor
Pfizer
Industry
Eligibility
18 Years to 64 Years · Male only
Enrollment
77 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2026
U.S. locations
19
States / cities
Mountain View, California • Oakland, California • Palo Alto, California + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 19, 2026 · Synced Oct 23, 2026, 6:29 AM EDT
Completed Phase 2 Interventional

A Study of HQK-1001 in Patients With Sickle Cell Disease

NCT01322269
View directory record Official record
Conditions
Sickle Cell Disease, Sickle Cell Anemia, Sickle Cell Disorders, Hemoglobin S Disease, Sickling Disorder Due to Hemoglobin S
Interventions
HQK-1001
Drug
Lead sponsor
HemaQuest Pharmaceuticals Inc.
Industry
Eligibility
12 Years to 60 Years
Enrollment
52 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2011
U.S. locations
9
States / cities
Oakland, California • Miami, Florida • Augusta, Georgia + 6 more
Source: ClinicalTrials.gov public record
Updated Jun 19, 2013 · Synced Oct 23, 2026, 6:29 AM EDT
Completed Phase 4 Interventional Results available

A Study to Evaluate the Safety and Effect of Escalating Doses of CINRYZE

NCT00914966
View directory record Official record
Conditions
Hereditary Angioedema
Interventions
C1 inhibitor (human) [C1 INH]
Biological
Lead sponsor
Shire
Industry
Eligibility
6 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2012
U.S. locations
11
States / cities
Scottsdale, Arizona • Atlanta, Georgia • Wheaton, Maryland + 8 more
Source: ClinicalTrials.gov public record
Updated Jun 23, 2021 · Synced Oct 23, 2026, 6:29 AM EDT
Recruiting No phase listed Observational

HoFH, the International Clinical Collaborators Registry

NCT04815005
View directory record Official record
Conditions
Homozygous Familial Hypercholesterolemia
Interventions
Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.
Other
Lead sponsor
University of Pennsylvania
Other
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2026
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 18, 2025 · Synced Oct 23, 2026, 6:29 AM EDT
Completed No phase listed Observational

Gyrate Atrophy of the Choroid and Retina

NCT00001166
View directory record Official record
Conditions
Gyrate Atrophy
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
Not listed
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1978 – 2004
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 23, 2026, 6:29 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Pilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD)

NCT00286156
View directory record Official record
Conditions
Polycystic Kidney Diseases
Interventions
Rapamune
Drug
Lead sponsor
The Cleveland Clinic
Other
Eligibility
18 Years to 75 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2014
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Apr 6, 2015 · Synced Oct 23, 2026, 6:29 AM EDT
Completed Phase 1 Interventional

Bioavailability of Ubiquinol in Huntington Disease

NCT00980694
View directory record Official record
Conditions
Huntington Disease
Interventions
ubiquinol
Dietary Supplement
Lead sponsor
University of Rochester
Other
Eligibility
18 Years and older
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2012
U.S. locations
1
States / cities
Rochester, New York
Source: ClinicalTrials.gov public record
Updated May 27, 2016 · Synced Oct 23, 2026, 6:29 AM EDT
Recruiting Phase 1Phase 2 Interventional

Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety of a Single Intravitreal Injection of RTx-021 in Patients With Stargardt Disease

NCT07439887
View directory record Official record
Conditions
Stargardt Disease
Interventions
RTx-021
Genetic
Lead sponsor
Ray Therapeutics, Inc.
Industry
Eligibility
16 Years and older
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2030
U.S. locations
3
States / cities
Bakersfield, California • Pittsburgh, Pennsylvania • Bellaire, Texas
Source: ClinicalTrials.gov public record
Updated Apr 15, 2026 · Synced Oct 23, 2026, 6:29 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

ADRN Barrier/Immunoprofiling Exploratory Pilot Study

NCT02115399
View directory record Official record
Conditions
Dermatitis, Dermatitis, Atopic, Eczema, Non-atopic Healthy Controls
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years to 60 Years
Enrollment
150 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2015
U.S. locations
3
States / cities
Denver, Colorado • Rochester, New York • Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Jul 27, 2015 · Synced Oct 23, 2026, 6:29 AM EDT
Terminated Phase 1Phase 2 Interventional Results available

Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita

NCT01001598
View directory record Official record
Conditions
Fanconi Anemia, Dyskeratosis Congenita
Interventions
danazol
Drug
Lead sponsor
Boston Children's Hospital
Other
Eligibility
3 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2014
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Feb 19, 2019 · Synced Oct 23, 2026, 6:29 AM EDT
Terminated Phase 3 Interventional Results available

Study of Aztreonam for Inhalation in Children With Cystic Fibrosis and New Infection of the Airways by Pseudomonas Aeruginosa Bacteria

NCT03219164
View directory record Official record
Conditions
Pseudomonas Aeruginosa Respiratory Tract Infection/Colonization, Cystic Fibrosis
Interventions
AZLI, Placebo
Drug
Lead sponsor
Gilead Sciences
Industry
Eligibility
3 Months to 18 Years
Enrollment
149 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
12
States / cities
San Francisco, California • Washington D.C., District of Columbia • St. Petersburg, Florida + 8 more
Source: ClinicalTrials.gov public record
Updated Jun 14, 2022 · Synced Oct 23, 2026, 6:29 AM EDT
Active, not recruiting Not applicable Interventional

Grand Valley State University (GVSU) Skills on Wheels

NCT05339932
View directory record Official record
Conditions
Spina Bifida, Cerebral Palsy, Genetic Disease, Spinal Cord Injuries, Gross Motor Development Delay, Motor Skills Disorders
Interventions
Manual Wheelchair Skills Training
Other
Lead sponsor
Grand Valley State University
Other
Eligibility
5 Years to 17 Years
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
Grand Rapids, Michigan
Source: ClinicalTrials.gov public record
Updated Sep 15, 2025 · Synced Oct 23, 2026, 6:29 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Molecular and Cellular Characterization of Spongiotic Dermatitis

NCT00371163
View directory record Official record
Conditions
Atopic Dermatitis, Psoriasis, Contact Dermatitis
Interventions
Not listed
Lead sponsor
University of California, Davis
Other
Eligibility
18 Years to 55 Years
Enrollment
31 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2006 – 2012
U.S. locations
1
States / cities
Sacramento, California
Source: ClinicalTrials.gov public record
Updated Apr 22, 2015 · Synced Oct 23, 2026, 6:29 AM EDT
Completed No phase listed Observational

The Natural History of Metachromatic Leukodystrophy Study (HOME Study)

NCT04628364
View directory record Official record
Conditions
Metachromatic Leukodystrophy
Interventions
Not listed
Lead sponsor
National Organization for Rare Disorders
Other
Eligibility
Not listed
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2025
U.S. locations
1
States / cities
Danbury, Connecticut
Source: ClinicalTrials.gov public record
Updated Jun 8, 2025 · Synced Oct 23, 2026, 6:29 AM EDT
Not listed Not applicable Interventional

Investigation of Supplemental L-alanine in the Management of Dietary Fructose Intolerance

NCT04022434
View directory record Official record
Conditions
Fructose Intolerance
Interventions
Placedo, Alanine
Dietary Supplement
Lead sponsor
Augusta University
Other
Eligibility
18 Years and older
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2020
U.S. locations
1
States / cities
Augusta, Georgia
Source: ClinicalTrials.gov public record
Updated Apr 15, 2020 · Synced Oct 23, 2026, 6:29 AM EDT
Active, not recruiting Not applicable Interventional Accepts healthy volunteers

Mechanisms for Vascular Dysfunction and Exercise Tolerance in CF

NCT02690064
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Acute Antioxidant, Chronic Antioxidant, Placebo
Dietary Supplement · Other
Lead sponsor
Augusta University
Other
Eligibility
7 Years and older
Enrollment
13 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2027
U.S. locations
1
States / cities
Augusta, Georgia
Source: ClinicalTrials.gov public record
Updated Jan 28, 2025 · Synced Oct 23, 2026, 6:29 AM EDT
Completed Phase 1 Interventional

Kisspeptin in the Evaluation of Delayed Puberty

NCT01438034
View directory record Official record
Conditions
Delayed Puberty, Kallmann Syndrome, Hypogonadotropic Hypogonadism, GnRH Deficiency
Interventions
kisspeptin 112-121, GnRH
Drug
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
12 Years to 17 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2021
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 19, 2023 · Synced Oct 23, 2026, 6:29 AM EDT