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ClinicalTrials.gov public records Last synced Oct 9, 2026, 9:17 PM EDT

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Showing 145–168 of 9,403 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetic Disease Clear all
Completed Phase 3 Interventional Results available

Study of Ivacaftor in Subjects With Cystic Fibrosis (CF) Who Have the R117H-CF Transmembrane Conductance Regulator (CFTR) Mutation (KONDUCT)

NCT01614457
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Ivacaftor, Placebo
Drug
Lead sponsor
Vertex Pharmaceuticals Incorporated
Industry
Eligibility
6 Years and older
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
29
States / cities
Birmingham, Alabama • Palo Alto, California • Hartford, Connecticut + 26 more
Source: ClinicalTrials.gov public record
Updated Feb 12, 2015 · Synced Oct 9, 2026, 9:17 PM EDT
Terminated No phase listed Observational Accepts healthy volunteers

DOAC ADRs Retrospective Study

NCT04247919
View directory record Official record
Conditions
Drug-Related Side Effects and Adverse Reactions
Interventions
Not listed
Lead sponsor
Cipherome, Inc.
Industry
Eligibility
18 Years to 99 Years
Enrollment
3 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020
U.S. locations
1
States / cities
San Jose, California
Source: ClinicalTrials.gov public record
Updated Mar 8, 2021 · Synced Oct 9, 2026, 9:17 PM EDT
Terminated Phase 1Phase 2 Interventional Results available

A Study to Assess the Safety, Tolerability, and Effect on Disease Progression of BIIB105 in Participants With Amyotrophic Lateral Sclerosis (ALS) and Participants With the ALS Ataxin-2 (ATXN2) Genetic Mutation

NCT04494256
View directory record Official record
Conditions
Amyotrophic Lateral Sclerosis
Interventions
BIIB105, Placebo
Drug
Lead sponsor
Biogen
Industry
Eligibility
18 Years and older
Enrollment
99 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
14
States / cities
Phoenix, Arizona • La Jolla, California • Palo Alto, California + 11 more
Source: ClinicalTrials.gov public record
Updated Oct 9, 2025 · Synced Oct 9, 2026, 9:17 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional

Gene Therapy for ACM Due to a PKP2 Pathogenic Variant

NCT06109181
View directory record Official record
Conditions
Arrhythmogenic Cardiomyopathy, PKP2-ACM, PKP2-ARVC
Interventions
LX2020
Genetic
Lead sponsor
Lexeo Therapeutics
Industry
Eligibility
18 Years to 65 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
5
States / cities
Stanford, California • Baltimore, Maryland • Ann Arbor, Michigan + 2 more
Source: ClinicalTrials.gov public record
Updated Nov 12, 2025 · Synced Oct 9, 2026, 9:17 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Digital Measures for Clinical Trial Endpoints in Huntington's Disease

NCT07010705
View directory record Official record
Conditions
Huntington Disease, Healthy
Interventions
ActiGraph LEAP, Axivity AX6
Device
Lead sponsor
University of Rochester
Other
Eligibility
25 Years to 65 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2027
U.S. locations
1
States / cities
Rochester, New York
Source: ClinicalTrials.gov public record
Updated Aug 17, 2026 · Synced Oct 9, 2026, 9:17 PM EDT
Completed No phase listed Observational

A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia

NCT01603095
View directory record Official record
Conditions
Achondroplasia
Interventions
Not listed
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Up to 17 Years
Enrollment
363 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2021
U.S. locations
9
States / cities
Los Angeles, California • Oakland, California • Wilmington, Delaware + 6 more
Source: ClinicalTrials.gov public record
Updated Apr 13, 2021 · Synced Oct 9, 2026, 9:17 PM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Personalized Education and Genetic Counseling to Increase Genetic Testing in Patients With a Known Family History of Pancreatic Cancer

NCT06744595
View directory record Official record
Conditions
Pancreatic Carcinoma
Interventions
Biospecimen Collection, Educational Intervention, Electronic Health Record Review, Genetic Counseling, Genetic Testing for Cancer Risk, Survey Administration
Procedure · Other · Genetic
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
50 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2026
U.S. locations
1
States / cities
Jacksonville, Florida
Source: ClinicalTrials.gov public record
Updated Jun 4, 2026 · Synced Oct 9, 2026, 9:17 PM EDT
Not listed Phase 2 Interventional

Genetic Counseling and Lifestyle Change for Diabetes Prevention

NCT01034319
View directory record Official record
Conditions
Pre-diabetes, Overweight, Metabolic Syndrome
Interventions
Diabetes Genetic Counseling, No genetic counseling
Behavioral
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
21 Years and older
Enrollment
90 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2012
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jul 20, 2011 · Synced Oct 9, 2026, 9:17 PM EDT
Recruiting Not applicable Interventional

Forehead Temperature-Regulating Therapy for Insomnia in Adults With Tourette's Disorder

NCT05499741
View directory record Official record
Conditions
Tourette's Disorder, Insomnia
Interventions
Forehead Temperature-Regulating Therapy
Device
Lead sponsor
University of California, Los Angeles
Other
Eligibility
18 Years to 50 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Mar 17, 2025 · Synced Oct 9, 2026, 9:17 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Pharmacogenetics of Alcohol: Treatment Implications

NCT00734656
View directory record Official record
Conditions
Alcohol Related Disorders, Alcoholism, Alcohol Abuse
Interventions
dutasteride + ethanol, placebo medication + ethanol, dutasteride + placebo alcohol, placebo medication + placebo alcohol
Drug
Lead sponsor
UConn Health
Other
Eligibility
21 Years to 45 Years · Male only
Enrollment
94 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2007 – 2011
U.S. locations
1
States / cities
Farmington, Connecticut
Source: ClinicalTrials.gov public record
Updated Mar 28, 2012 · Synced Oct 9, 2026, 9:17 PM EDT
Completed Phase 1 Interventional Results available

Pharmacokinetic Study of ADVATE Reconstituted in 2 mL Sterile Water for Injection

NCT00952822
View directory record Official record
Conditions
Hemophilia A
Interventions
Antihemophilic factor, recombinant, manufactured protein-free (rAHF-PFM). (Antihemophilic factor is also known as Factor VIII)
Biological
Lead sponsor
Baxalta now part of Shire
Industry
Eligibility
2 Years to 65 Years
Enrollment
52 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
11
States / cities
Washington D.C., District of Columbia • Atlanta, Georgia • Lexington, Kentucky + 8 more
Source: ClinicalTrials.gov public record
Updated May 24, 2021 · Synced Oct 9, 2026, 9:17 PM EDT
Active, not recruiting Phase 3 Interventional

Study to Evaluate Efficacy and Safety of Romosozumab Compared With Bisphosphonates in Children and Adolescents With Osteogenesis Imperfecta

NCT05972551
View directory record Official record
Conditions
Osteogenesis Imperfecta
Interventions
Romosozumab, Bisphosphonate
Drug
Lead sponsor
Amgen
Industry
Eligibility
5 Years to 17 Years
Enrollment
111 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
14
States / cities
Birmingham, Alabama • Phoenix, Arizona • Los Angeles, California + 11 more
Source: ClinicalTrials.gov public record
Updated May 27, 2026 · Synced Oct 9, 2026, 9:17 PM EDT
Recruiting No phase listed Observational

Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)

NCT07567131
View directory record Official record
Conditions
Erythropoietic Protoporphyria (EPP), X-Linked Porphyria (XLP)
Interventions
Not listed
Lead sponsor
Portal Therapeutics, Inc.
Industry
Eligibility
12 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
5
States / cities
Boston, Massachusetts • New York, New York • Wake Forest, North Carolina + 2 more
Source: ClinicalTrials.gov public record
Updated May 5, 2026 · Synced Oct 9, 2026, 9:17 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional Results available

A Phase I/II Study of VTX-801 in Adult Patients With Wilson's Disease

NCT04537377
View directory record Official record
Conditions
Wilson's Disease
Interventions
VTX-801
Genetic
Lead sponsor
Vivet Therapeutics SAS
Industry
Eligibility
18 Years to 65 Years
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2029
U.S. locations
6
States / cities
Sacramento, California • New Haven, Connecticut • Orlando, Florida + 3 more
Source: ClinicalTrials.gov public record
Updated Jan 30, 2026 · Synced Oct 9, 2026, 9:17 PM EDT
Withdrawn No phase listed Observational Accepts healthy volunteers

CLinical Prediction Rule Score in Veterans

NCT01418781
View directory record Official record
Conditions
Gout
Interventions
Not listed
Lead sponsor
jasvinder singh
Federal
Eligibility
18 Years to 110 Years
Healthy volunteers
Accepts healthy volunteers
Timeline
2008 – 2010
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Mar 13, 2024 · Synced Oct 9, 2026, 9:17 PM EDT
Completed Phase 2 Interventional Results available

Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Chest and Back

NCT00783965
View directory record Official record
Conditions
Skin Carcinoma
Interventions
tazarotene, placebo
Drug · Other
Lead sponsor
UCSF Benioff Children's Hospital Oakland
Other
Eligibility
18 Years to 75 Years
Enrollment
34 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2014
U.S. locations
3
States / cities
Oakland, California • New York, New York
Source: ClinicalTrials.gov public record
Updated Feb 11, 2016 · Synced Oct 9, 2026, 9:17 PM EDT
Active, not recruiting No phase listed Observational

Genetic Modifiers of Cystic Fibrosis (CF) Liver Disease

NCT00804583
View directory record Official record
Conditions
Cystic Fibrosis, Liver Disease
Interventions
Not listed
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
2 Years and older
Enrollment
154 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2027
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Sep 23, 2025 · Synced Oct 9, 2026, 9:17 PM EDT
Completed Phase 1 Interventional

Safety and Pharmacodynamics of SEL-037 (Pegsiticase) in Subjects With Elevated Blood Uric Acid Levels

NCT02464605
View directory record Official record
Conditions
Gout
Interventions
SEL-037 (pegsiticase)
Biological
Lead sponsor
Selecta Biosciences, Inc.
Industry
Eligibility
21 Years to 75 Years
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
2
States / cities
Duncansville, Pennsylvania • Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Oct 21, 2016 · Synced Oct 9, 2026, 9:17 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional

Cancer Preventive Vaccine Nous-209 for Lynch Syndrome Patients

NCT05078866
View directory record Official record
Conditions
Colorectal Carcinoma, Lynch Syndrome
Interventions
Adenoviral Tumor-specific Neoantigen Priming Vaccine GAd-209-FSP, Biospecimen Collection, Endoscopic Biopsy, MVA Tumor-specific Neoantigen Boosting Vaccine MVA-209-FSP, Questionnaire Administration
Biological · Procedure · Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
3
States / cities
Duarte, California • Philadelphia, Pennsylvania • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Mar 3, 2026 · Synced Oct 9, 2026, 9:17 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Clinical vs. Anecdotal Evidence - Pediatric Atopic Dermatitis

NCT03559075
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
Not listed
Lead sponsor
Wake Forest University Health Sciences
Other
Eligibility
18 Years and older
Enrollment
480 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018
U.S. locations
1
States / cities
Winston-Salem, North Carolina
Source: ClinicalTrials.gov public record
Updated Feb 18, 2022 · Synced Oct 9, 2026, 9:17 PM EDT
Enrolling by invitation No phase listed Observational

RNA to the RESCUE: Evaluation to Assess the Clinical Utility of RNA Sequencing in Establishing a Genetic Diagnosis or Adjudicating a Previously Established Genetic Diagnosis.

NCT07787975
View directory record Official record
Conditions
Genetic Conditions, Genetic Disorders
Interventions
RNA sequencing
Device
Lead sponsor
University of California, San Francisco
Other
Eligibility
2 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Oct 2, 2026 · Synced Oct 9, 2026, 9:17 PM EDT
Completed Phase 1 Interventional Results available

Study to Evaluate Romosozumab in Children and Adolescents With Osteogenesis Imperfecta

NCT04545554
View directory record Official record
Conditions
Osteogenesis Imperfecta
Interventions
Romosozumab, Calcium, Vitamin D
Drug · Dietary Supplement
Lead sponsor
Amgen
Industry
Eligibility
5 Years to 17 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
3
States / cities
Indianapolis, Indiana • Nashville, Tennessee • Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Apr 15, 2024 · Synced Oct 9, 2026, 9:17 PM EDT
Completed Phase 3 Interventional Results available

Long-term Extension Trial in Subjects With Atopic Dermatitis Who Participated in Previous Tralokinumab Trials - ECZTEND

NCT03587805
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
Tralokinumab
Drug
Lead sponsor
LEO Pharma
Industry
Eligibility
12 Years and older
Enrollment
1,672 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2024
U.S. locations
95
States / cities
Birmingham, Alabama • Mobile, Alabama • Fort Smith, Arkansas + 78 more
Source: ClinicalTrials.gov public record
Updated Mar 11, 2025 · Synced Oct 9, 2026, 9:17 PM EDT
Recruiting Phase 1Phase 2 Interventional

A Study to Assess the Effects of ACI-24.060 in Alzheimer's Disease and in Down Syndrome (ABATE Study)

NCT05462106
View directory record Official record
Conditions
Amyloid Plaque, Beta-Amyloid, DSAD, Prodromal Alzheimer's Disease, Alzheimer's Disease
Interventions
Placebo (Study Part 1a), ACI-24.060 at Dose A in Study Part 1a, ACI-24.060 at Dose B in Study Part 1a, ACI-24.060 at Dose C in Study Part 1a, ACI-24.060 with an additional adjuvant at Dose D in Study Part 1b, Placebo (Study Part 2), ACI-24.060 at Dose A in Study Part 2, ACI-24.060 at Dose B in Study Part 2, ACI-24.060 at Dose C in Study Part 2, Placebo (Study Part 1b), ACI-24.060 with an additional adjuvant at Dose E in Study Part 1b
Biological
Lead sponsor
AC Immune SA
Industry
Eligibility
35 Years to 85 Years
Enrollment
304 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2029
U.S. locations
13
States / cities
Phoenix, Arizona • Lady Lake, Florida • Orlando, Florida + 9 more
Source: ClinicalTrials.gov public record
Updated Jul 10, 2026 · Synced Oct 9, 2026, 9:17 PM EDT