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ClinicalTrials.gov public records Last synced Oct 11, 2026, 5:13 AM EDT

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Showing 169–192 of 9,403 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetic Disease Clear all
Completed Not applicable Interventional

Counseling Interventions for BRCA 1/2 Cancer Susceptibility Testing

NCT00165152
View directory record Official record
Conditions
Breast Cancer, Ovarian Cancer
Interventions
Genetic Counseling, Informed Consent Counseling
Procedure
Lead sponsor
Dana-Farber Cancer Institute
Other
Eligibility
18 Years and older · Female only
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2005
U.S. locations
2
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Aug 9, 2012 · Synced Oct 11, 2026, 5:13 AM EDT
Terminated No phase listed Observational

US Selumetinib Registry

NCT05683678
View directory record Official record
Conditions
Neurofibromatosis Type 1, Plexiform Neurofibromas
Interventions
Not listed
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
2 Years to 18 Years
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2024
U.S. locations
10
States / cities
Phoenix, Arizona • Los Angeles, California • Miami, Florida + 7 more
Source: ClinicalTrials.gov public record
Updated Apr 4, 2025 · Synced Oct 11, 2026, 5:13 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Environmental and Genetic Risk Factors for Pediatric Multiple Sclerosis

NCT01396343
View directory record Official record
Conditions
Pediatric Multiple Sclerosis
Interventions
Not listed
Lead sponsor
University of California, San Francisco
Other
Eligibility
3 Years to 21 Years
Enrollment
1,276 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2018
U.S. locations
17
States / cities
Birmingham, Alabama • San Bernardino, California • San Francisco, California + 13 more
Source: ClinicalTrials.gov public record
Updated Oct 18, 2018 · Synced Oct 11, 2026, 5:13 AM EDT
Recruiting Phase 1Phase 2 Interventional

Early Trial of Allogeneic Hematopoietic Stem Cell Transplantation for Patients Who Will Receive a Kidney Transplant From the Same Donor

NCT05508009
View directory record Official record
Conditions
SIOD, Cystinosis, FSGS, SLE Nephritis, CKD Stage 4
Interventions
Cyclophosphamide 1200 mg/Kg, Fludarabine, Cyclophosphamide 100 mg/Kg, Total Body Irradiation, ATG, Rituximab, Melphalan, CliniMACS® TCR α/β Reagent Kit and CliniMACS® CD19 System, Kidney Transplant
Drug · Radiation · Device + 1 more
Lead sponsor
Alice Bertaina
Other
Eligibility
1 Year to 30 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2034
U.S. locations
1
States / cities
Palo Alto, California
Source: ClinicalTrials.gov public record
Updated Jul 17, 2023 · Synced Oct 11, 2026, 5:13 AM EDT
Active, not recruiting Phase 3 Interventional

Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3

NCT05222906
View directory record Official record
Conditions
Gaucher's Disease Type III
Interventions
Venglustat, imiglucerase
Drug
Lead sponsor
Sanofi
Industry
Eligibility
12 Years and older
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
4
States / cities
New Haven, Connecticut • Iowa City, Iowa • Dallas, Texas + 1 more
Source: ClinicalTrials.gov public record
Updated Jul 13, 2026 · Synced Oct 11, 2026, 5:13 AM EDT
Withdrawn Phase 1Phase 2 Interventional

Mobile Phone App for Depression and Anxiety in Young Men Who Are Attracted to Men

NCT02072252
View directory record Official record
Conditions
Depressive Symptoms, Anxiety Generalized
Interventions
Mobile Phone Application
Behavioral
Lead sponsor
Northwestern University
Other
Eligibility
17 Years to 20 Years · Male only
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Aug 17, 2017 · Synced Oct 11, 2026, 5:13 AM EDT
Completed Phase 2 Interventional

Study of GMI-1070 for the Treatment of Sickle Cell Pain Crisis

NCT01119833
View directory record Official record
Conditions
Sickle Cell Disease, Vaso-occlusive Crisis, Pain Crisis
Interventions
GMI-1070, Placebo
Drug
Lead sponsor
GlycoMimetics Incorporated
Industry
Eligibility
12 Years to 60 Years
Enrollment
81 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
21
States / cities
Birmingham, Alabama • Berkeley, California • Sacramento, California + 18 more
Source: ClinicalTrials.gov public record
Updated May 13, 2020 · Synced Oct 11, 2026, 5:13 AM EDT
Terminated Phase 2 Interventional

PTC299 for Treatment of Neurofibromatosis Type 2

NCT00911248
View directory record Official record
Conditions
Neurofibromatosis 2
Interventions
PTC299
Drug
Lead sponsor
PTC Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2012
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 12, 2019 · Synced Oct 11, 2026, 5:13 AM EDT
Completed No phase listed Observational

Identifying Barriers and Strategies to Support Self-efficacy for Medication Adherence With Text Messaging

NCT02785848
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Interviews and Surveys
Other
Lead sponsor
Vanderbilt University
Other
Eligibility
12 Years to 70 Years
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2026
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Sep 23, 2026 · Synced Oct 11, 2026, 5:13 AM EDT
Completed Phase 1 Interventional

A Randomized Comparative Pharmacokinetic Study of Oral Ganciclovir After Treatment With Intravenous Ganciclovir for Cytomegalovirus Gastrointestinal Disease in AIDS Patients

NCT00000768
View directory record Official record
Conditions
Colitis, HIV Infections
Interventions
Glutamic acid hydrochloride, Ganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
13 Years and older
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 1998
U.S. locations
5
States / cities
Birmingham, Alabama • San Francisco, California • St Louis, Missouri + 2 more
Source: ClinicalTrials.gov public record
Updated Nov 4, 2021 · Synced Oct 11, 2026, 5:13 AM EDT
Terminated Phase 2 Interventional Results available

Topical Sodium Nitrite in Sickle Cell Disease and Leg Ulcers

NCT02863068
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Topical Sodium Nitrite, Placebo
Drug · Other
Lead sponsor
caterina P minniti
Other
Eligibility
18 Years and older
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2023
U.S. locations
3
States / cities
The Bronx, New York • Durham, North Carolina • Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated May 7, 2025 · Synced Oct 11, 2026, 5:13 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

New Quantitive MRI Parameters in Assessing Kidneys of Autosomal Dominant Polycystic Kidney Disease

NCT02250287
View directory record Official record
Conditions
Autosomal Dominant Polycystic Kidney Disease, Kidney Disease
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years to 30 Years
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2016
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Jun 17, 2016 · Synced Oct 11, 2026, 5:13 AM EDT
Active, not recruiting No phase listed Observational

Metagenomic Evaluation of the Gut Microbiome in Patients With Lynch Syndrome and Other Hereditary Colonic Polyposis Syndromes

NCT02371135
View directory record Official record
Conditions
Lynch Syndrome, Hereditary Colonic Polyposis Syndromes
Interventions
colonic biopsies, questionnaires
Genetic
Lead sponsor
Memorial Sloan Kettering Cancer Center
Other
Eligibility
18 Years and older
Enrollment
77 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2027
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Feb 5, 2026 · Synced Oct 11, 2026, 5:13 AM EDT
Terminated Phase 2 Interventional Results available

Early Signs of Efficacy Study With Riociguat in Adult Homozygous Delta F508 Cystic Fibrosis Patients

NCT02170025
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Riociguat (Adempas, BAY63-2521), Placebo
Drug
Lead sponsor
Bayer
Industry
Eligibility
18 Years and older
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2017
U.S. locations
3
States / cities
Birmingham, Alabama • Denver, Colorado • St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Nov 7, 2023 · Synced Oct 11, 2026, 5:13 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

A Study to Compare the Relative Bioavailability of Two Iberdomide (CC-220) Formulations and to Assess The Effect Of Food on the Drug Levels of Iberdomide in Healthy Adult Participants

NCT05899738
View directory record Official record
Conditions
Healthy Volunteers
Interventions
Iberdomide
Drug
Lead sponsor
Bristol-Myers Squibb
Industry
Eligibility
18 Years to 65 Years
Enrollment
32 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023
U.S. locations
1
States / cities
Daytona Beach, Florida
Source: ClinicalTrials.gov public record
Updated Jul 26, 2024 · Synced Oct 11, 2026, 5:13 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Study of PI3Kinase Inhibition (Copanlisib) and Anti-PD-1 Antibody Nivolumab in Relapsed/Refractory Solid Tumors With Expansions in Mismatch-repair Proficient (MSS) Colorectal Cancer

NCT03711058
View directory record Official record
Conditions
Unresectable or Metastatic Microsatellite Stable (MSS) Solid Tumor, Microsatellite Stable (MSS) Colon Cancer
Interventions
Copanlisib, Nivolumab
Drug
Lead sponsor
Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
Other
Eligibility
18 Years and older
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2025
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 16, 2025 · Synced Oct 11, 2026, 5:13 AM EDT
Active, not recruiting Phase 1Phase 2 Interventional

A Study of Tividenofusp Alfa (DNL310) in Pediatric Participants With Hunter Syndrome

NCT04251026
View directory record Official record
Conditions
Mucopolysaccharidosis II
Interventions
tividenofusp alfa
Drug
Lead sponsor
Denali Therapeutics Inc.
Industry
Eligibility
Up to 18 Years · Male only
Enrollment
47 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2031
U.S. locations
4
States / cities
Oakland, California • Chicago, Illinois • Chapel Hill, North Carolina + 1 more
Source: ClinicalTrials.gov public record
Updated Aug 7, 2025 · Synced Oct 11, 2026, 5:13 AM EDT
Completed No phase listed Observational

Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders

NCT03967743
View directory record Official record
Conditions
Genetic Disease, Genetic Syndrome, Genetic Predisposition to Disease, Development, Infant, Development, Child
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Up to 4 Years
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2026
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 2, 2026 · Synced Oct 11, 2026, 5:13 AM EDT
Completed Phase 1Phase 2 Interventional

Phase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi's Anemia

NCT00005898
View directory record Official record
Conditions
Fanconi's Anemia
Interventions
anti-thymocyte globulin, cyclophosphamide, cyclosporine, filgrastim, fludarabine, methylprednisolone
Drug
Lead sponsor
University of Minnesota
Other
Eligibility
0 Years to 34 Years
Enrollment
30 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 11, 2026, 5:13 AM EDT
Recruiting No phase listed Observational

Sensory Symptoms in Tourette Syndrome

NCT03851484
View directory record Official record
Conditions
Tourette Syndrome
Interventions
Not listed
Lead sponsor
Vanderbilt University Medical Center
Other
Eligibility
18 Years and older
Enrollment
214 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2028
U.S. locations
2
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Mar 13, 2026 · Synced Oct 11, 2026, 5:13 AM EDT
Terminated Early Phase 1 Interventional

68Ga-DOTA-TOC PET/CT in Imaging Participants With Neuroendocrine Tumors

NCT03001349
View directory record Official record
Conditions
Meningioma, Metastatic Well Differentiated Neuroendocrine Neoplasm, Multiple Endocrine Neoplasia Type 1, Neuroendocrine Neoplasm, Somatostatin Positive Neoplastic Cells Present, Von Hippel-Lindau Syndrome
Interventions
Computed Tomography, Gallium Ga 68-Edotreotide, Positron Emission Tomography
Procedure · Drug
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
Not listed
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Feb 15, 2021 · Synced Oct 11, 2026, 5:13 AM EDT
Terminated Phase 2Phase 3 Interventional Results available

The BROADEN Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Participants With Familial Partial Lipodystrophy

NCT02527343
View directory record Official record
Conditions
Familial Partial Lipodystrophy
Interventions
volanesorsen, Placebo
Drug
Lead sponsor
Akcea Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
6
States / cities
Ann Arbor, Michigan • Rochester, Minnesota • St Louis, Missouri + 3 more
Source: ClinicalTrials.gov public record
Updated Oct 18, 2021 · Synced Oct 11, 2026, 5:13 AM EDT
Completed Phase 4 Interventional Accepts healthy volunteers Results available

Imaging Cardiac Amyloidosis: A Pilot Study Using F-18 Florbetapir Positron Emission Tomography

NCT01683825
View directory record Official record
Conditions
Cardiac Amyloidosis
Interventions
F-18 florbetapir PET
Drug
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years and older
Enrollment
23 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2018
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 20, 2025 · Synced Oct 11, 2026, 5:13 AM EDT
Terminated Phase 2 Interventional Results available

LDE225 for Patients With PTCH1 or SMO Mutated Tumors

NCT02002689
View directory record Official record
Conditions
PTCH1 or SMO Activated Solid and Hematologic Tumors
Interventions
LDE225
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
10
States / cities
Sacramento, California • Greenwood Village, Colorado • Chicago, Illinois + 6 more
Source: ClinicalTrials.gov public record
Updated May 2, 2016 · Synced Oct 11, 2026, 5:13 AM EDT