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ClinicalTrials.gov public records Last synced Oct 22, 2026, 1:47 AM EDT

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Showing 481–504 of 8,007 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetics/Birth Defects Clear all
Terminated Phase 2 Interventional Results available

Panhematin for Prevention of Acute Attacks of Porphyria

NCT02922413
View directory record Official record
Conditions
Acute Intermittent Porphyria, Hereditary Coproporphyria, Variegate Porphyria
Interventions
Hemin for injection, Placebo
Biological · Other
Lead sponsor
The University of Texas Medical Branch, Galveston
Other
Eligibility
18 Years and older
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2023
U.S. locations
1
States / cities
Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Jan 30, 2026 · Synced Oct 22, 2026, 1:47 AM EDT
Completed Not applicable Interventional

Genetic Counseling for Breast Cancer Survivors (GC for BC)

NCT02451735
View directory record Official record
Conditions
Breast Cancer
Interventions
Video and Booklet, Factsheet
Behavioral
Lead sponsor
H. Lee Moffitt Cancer Center and Research Institute
Other
Eligibility
18 Years and older · Female only
Enrollment
157 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2019
U.S. locations
1
States / cities
Tampa, Florida
Source: ClinicalTrials.gov public record
Updated Nov 8, 2019 · Synced Oct 22, 2026, 1:47 AM EDT
Completed Phase 3 Interventional Accepts healthy volunteers Results available

Study of Equivalence of Generic Pimecrolimus Cream 1% and Elidel® 1% in Subjects With Mild to Moderate Atopic Dermatitis

NCT02791308
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
Pimecrolimus Cream 1% (Valeant), Vehicle cream, Pimecrolimus Cream, 1%
Drug
Lead sponsor
Actavis Inc.
Industry
Eligibility
12 Years to 90 Years
Enrollment
587 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2016
U.S. locations
53
States / cities
Anniston, Alabama • Birmingham, Alabama • Mesa, Arizona + 47 more
Source: ClinicalTrials.gov public record
Updated May 29, 2020 · Synced Oct 22, 2026, 1:47 AM EDT
Recruiting Phase 3 Interventional

A Study to Investigate the Efficacy and Safety of Fitusiran Prophylaxis in Male Participants Aged 1 to Less Than 12 Years With Hemophilia A or B

NCT07285460
View directory record Official record
Conditions
Hemophilia
Interventions
Fitusiran, Clotting factor concentrates (CFC) or bypassing agents (BPA), Antithrombin concentrate (ATIIIC)
Drug · Biological
Lead sponsor
Sanofi
Industry
Eligibility
1 Year to 11 Years · Male only
Enrollment
85 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2031
U.S. locations
10
States / cities
Los Angeles, California • Orange, California • Torrance, California + 6 more
Source: ClinicalTrials.gov public record
Updated Oct 19, 2026 · Synced Oct 22, 2026, 1:47 AM EDT
Terminated Phase 2 Interventional Results available

Open Label Extension Study To Investigate Long Term Safety, Tolerability And Efficacy Of Pf-02545920 In Subjects With Huntington's Disease Who Completed Study A8241021

NCT02342548
View directory record Official record
Conditions
Huntington's Disease
Interventions
20 mg BID of PF-02545920
Drug
Lead sponsor
Pfizer
Industry
Eligibility
30 Years to 66 Years
Enrollment
188 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
17
States / cities
Birmingham, Alabama • Scottsdale, Arizona • Irvine, California + 9 more
Source: ClinicalTrials.gov public record
Updated Apr 23, 2018 · Synced Oct 22, 2026, 1:47 AM EDT
Enrolling by invitation No phase listed Observational

Long-term Follow-up Study of Gene Therapy for Arrhythmogenic Cardiomyopathy Due to a Plakophilin-2 Pathogenic Variant

NCT07050160
View directory record Official record
Conditions
Arrhythmogenic Cardiomyopathy, PKP2-ACM, PKP2-ARVC
Interventions
Not listed
Lead sponsor
Lexeo Therapeutics
Industry
Eligibility
18 Years to 67 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Nov 12, 2025 · Synced Oct 22, 2026, 1:47 AM EDT
Terminated Not applicable Interventional Results available

Bi-Level Positive Airway Ventilation for Acute Chest Syndrome

NCT01589926
View directory record Official record
Conditions
Sickle Cell Anemia, Acute Chest Syndrome
Interventions
Bi-level positive airway pressure device, Sham CPAP
Device
Lead sponsor
Albert Einstein College of Medicine
Other
Eligibility
4 Years to 21 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
1
States / cities
The Bronx, New York
Source: ClinicalTrials.gov public record
Updated Dec 11, 2018 · Synced Oct 22, 2026, 1:47 AM EDT
Recruiting Phase 1Phase 2 Interventional

ATTUNE: A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Intrathecally-Administered ION440 in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome (MDS)

NCT06430385
View directory record Official record
Conditions
Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
Interventions
ION440, Sham procedure
Drug · Procedure
Lead sponsor
Ionis Pharmaceuticals, Inc.
Industry
Eligibility
2 Years to 65 Years · Male only
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2030
U.S. locations
8
States / cities
San Diego, California • Aurora, Colorado • Baltimore, Maryland + 5 more
Source: ClinicalTrials.gov public record
Updated Oct 8, 2026 · Synced Oct 22, 2026, 1:47 AM EDT
Completed Phase 2Phase 3 Interventional Results available

Arimoclomol Prospective Study in Participants Diagnosed With Niemann-Pick Disease Type C

NCT02612129
View directory record Official record
Conditions
Niemann-Pick Disease, Type C
Interventions
arimoclomol, Placebo
Drug
Lead sponsor
ZevraDenmark
Industry
Eligibility
2 Years to 18 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2024
U.S. locations
2
States / cities
Oakland, California • Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Nov 29, 2024 · Synced Oct 22, 2026, 1:47 AM EDT
Completed Not applicable Interventional Results available

Decisional Capacity and Informed Consent in Fragile X Syndrome

NCT02465931
View directory record Official record
Conditions
Fragile X Syndrome (FXS)
Interventions
Paper and Pencil Informed Consent, Digital Informed Consent Tool
Other
Lead sponsor
RTI International
Other
Eligibility
12 Years to 40 Years
Enrollment
152 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
1
States / cities
Research Triangle Park, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 7, 2019 · Synced Oct 22, 2026, 1:47 AM EDT
Terminated Phase 2 Interventional Results available

Evaluation of the Efficacy and Safety of VX-814 in Subjects With the PiZZ Genotype

NCT04167345
View directory record Official record
Conditions
Alpha 1-Antitrypsin Deficiency
Interventions
VX-814, Placebo
Drug
Lead sponsor
Vertex Pharmaceuticals Incorporated
Industry
Eligibility
18 Years to 80 Years
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020
U.S. locations
22
States / cities
Birmingham, Alabama • Sacramento, California • Denver, Colorado + 19 more
Source: ClinicalTrials.gov public record
Updated Feb 2, 2022 · Synced Oct 22, 2026, 1:47 AM EDT
Terminated Phase 3 Interventional

Carotid B-mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrapib/Atorvastatin to Atorvastatin.

NCT00134238
View directory record Official record
Conditions
Mixed Hyperlipidemia
Interventions
torcetrapib/atorvastatin, atorvastatin
Drug
Lead sponsor
Pfizer
Industry
Eligibility
18 Years to 70 Years
Enrollment
755 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2006
U.S. locations
40
States / cities
Gilbert, Arizona • Phoenix, Arizona • Scottsdale, Arizona + 37 more
Source: ClinicalTrials.gov public record
Updated Feb 17, 2012 · Synced Oct 22, 2026, 1:47 AM EDT
Completed No phase listed Observational

An Ocular Safety Study of Ivacaftor-Treated Pediatric Patients 11 Years of Age or Younger With Cystic Fibrosis

NCT01863238
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Ophthalmologic examinations, Ivacaftor Exposed
Other · Drug
Lead sponsor
Vertex Pharmaceuticals Incorporated
Industry
Eligibility
6 Years to 11 Years
Enrollment
95 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2016
U.S. locations
38
States / cities
Birmingham, Alabama • Tucson, Arizona • Long Beach, California + 35 more
Source: ClinicalTrials.gov public record
Updated Aug 23, 2016 · Synced Oct 22, 2026, 1:47 AM EDT
Recruiting Phase 1 Interventional Accepts healthy volunteers

A Trial to Examine if Repinatrabit is Processed Differently in Adults With Reduced Liver or Kidney Function Compared to Adults With Normal Liver and Kidney Function

NCT07713758
View directory record Official record
Conditions
Phenylketonuria
Interventions
Repinatrabit
Drug
Lead sponsor
Otsuka Pharmaceutical Development & Commercialization, Inc.
Industry
Eligibility
18 Years to 65 Years
Enrollment
32 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2027
U.S. locations
1
States / cities
Miami, Florida
Source: ClinicalTrials.gov public record
Updated Aug 12, 2026 · Synced Oct 22, 2026, 1:47 AM EDT
Completed Phase 2 Interventional Results available

Oral DS107 in Moderate to Severe Atopic Dermatitis

NCT02211417
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
Oral DS107, Placebo
Drug
Lead sponsor
Dignity Sciences Ltd.
Industry
Eligibility
18 Years and older
Enrollment
102 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015
U.S. locations
8
States / cities
Arlington Heights, Illinois • West Dundee, Illinois • Warren, Michigan + 5 more
Source: ClinicalTrials.gov public record
Updated Oct 7, 2022 · Synced Oct 22, 2026, 1:47 AM EDT
Recruiting Phase 3 Interventional

A Study of Mavorixafor in Participants With Congenital and Acquired Primary Autoimmune and Idiopathic Chronic Neutropenic Disorders Who Are Experiencing Recurrent and/or Serious Infections

NCT06056297
View directory record Official record
Conditions
Neutropenia
Interventions
Mavorixafor, Placebo
Drug
Lead sponsor
X4 Pharmaceuticals
Industry
Eligibility
12 Years and older
Enrollment
176 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
22
States / cities
Phoenix, Arizona • Irvine, California • La Jolla, California + 19 more
Source: ClinicalTrials.gov public record
Updated Aug 6, 2026 · Synced Oct 22, 2026, 1:47 AM EDT
Active, not recruiting Phase 3 Interventional

Open-Label Safety Study of Acoramidis (AG10) in Symptomatic ATTR Participants

NCT04988386
View directory record Official record
Conditions
Amyloid Cardiomyopathy, Transthyretin-Related
Interventions
Acoramidis (AG10)
Drug
Lead sponsor
Eidos Therapeutics, a BridgeBio company
Industry
Eligibility
18 Years to 90 Years
Enrollment
389 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2028
U.S. locations
26
States / cities
Los Angeles, California • Aurora, Colorado • Chicago, Illinois + 21 more
Source: ClinicalTrials.gov public record
Updated Oct 14, 2025 · Synced Oct 22, 2026, 1:47 AM EDT
Completed Not applicable Interventional

Evaluation of an Online Comprehensive Behavioral Intervention for Tics (CBIT) Therapist Training Program

NCT05547854
View directory record Official record
Conditions
Tics, Tic Disorders, Tourette Syndrome
Interventions
Behavior Therapy Training Institute, CBIT-Trainer
Behavioral
Lead sponsor
University of Utah
Other
Eligibility
7 Years and older
Enrollment
284 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
2
States / cities
Salt Lake City, Utah • Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Oct 5, 2026 · Synced Oct 22, 2026, 1:47 AM EDT
Completed Phase 2 Interventional Results available

NB-001 in Children and Adolescents With 22q11 Deletion Syndrome

NCT05290493
View directory record Official record
Conditions
22q11 Deletion Syndrome
Interventions
NB-001, Placebo
Drug · Other
Lead sponsor
Nobias Therapeutics, Inc.
Industry
Eligibility
6 Years to 17 Years
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
3
States / cities
Aurora, Colorado • Philadelphia, Pennsylvania • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Feb 10, 2025 · Synced Oct 22, 2026, 1:47 AM EDT
Terminated Phase 2 Interventional Results available

A Study to Assess the Long-Term Safety of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Participants With Prader-Willi Syndrome

NCT03458416
View directory record Official record
Conditions
Prader-Willi Syndrome
Interventions
Cannabidiol Oral Solution
Drug
Lead sponsor
Radius Pharmaceuticals, Inc.
Industry
Eligibility
8 Years to 17 Years
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
1
States / cities
Tacoma, Washington
Source: ClinicalTrials.gov public record
Updated Jun 22, 2023 · Synced Oct 22, 2026, 1:47 AM EDT
Completed Phase 2 Interventional Accepts healthy volunteers

Topical Application to Relieve Gout: Efficacy Trial & Safety (TARGETS)

NCT04130204
View directory record Official record
Conditions
Gout
Interventions
DYV700, Placebo, Colchicine 0.6 mg
Drug
Lead sponsor
Dyve Biosciences, Inc.
Industry
Eligibility
18 Years to 75 Years
Enrollment
284 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2021
U.S. locations
1
States / cities
Poway, California
Source: ClinicalTrials.gov public record
Updated May 13, 2022 · Synced Oct 22, 2026, 1:47 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Kidney Function in People With Cystic Fibrosis in the Era of HEMT

NCT06595420
View directory record Official record
Conditions
Cystic Fibrosis (CF), Chronic Kidney Disease(CKD), Acute Kidney Injury
Interventions
Not listed
Lead sponsor
University of Virginia
Other
Eligibility
7 Years and older
Enrollment
260 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2027
U.S. locations
3
States / cities
Birmingham, Alabama • Lebanon, New Hampshire • Charlottesville, Virginia
Source: ClinicalTrials.gov public record
Updated May 4, 2026 · Synced Oct 22, 2026, 1:47 AM EDT
Enrolling by invitation No phase listed Observational

The Mayo Clinic Rare and Undiagnosed Disease Hackathon

NCT07714161
View directory record Official record
Conditions
Undiagnosed Diseases, Genetic Diseases, Rare Diseases
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
Not listed
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Oct 1, 2026 · Synced Oct 22, 2026, 1:47 AM EDT
Completed No phase listed Observational Results available

Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®

NCT00937794
View directory record Official record
Conditions
Hunter Syndrome
Interventions
Neurobehavioral testing, Visual and auditory assessments
Behavioral · Other
Lead sponsor
Shire
Industry
Eligibility
32 Months to 18 Years · Male only
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 14, 2021 · Synced Oct 22, 2026, 1:47 AM EDT