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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Completed Phase 2 Interventional Results available

Efficacy and Safety Study of WTX101 (ALXN1840) in Adult Wilson Disease Patients

NCT02273596
View directory record Official record
Conditions
Wilson Disease
Interventions
ALXN1840
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
18 Years and older
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2018
U.S. locations
4
States / cities
Los Angeles, California • New Haven, Connecticut • Chicago, Illinois + 1 more
Source: ClinicalTrials.gov public record
Updated Sep 28, 2021 · Synced Sep 24, 2026, 6:12 PM EDT
Completed Phase 2Phase 3 Interventional Results available

Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment

NCT02055118
View directory record Official record
Conditions
Hunter Syndrome
Interventions
idursulfase-IT, No IT treatment
Biological · Other
Lead sponsor
Shire
Industry
Eligibility
Up to 18 Years · Male only
Enrollment
58 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2017
U.S. locations
3
States / cities
Oakland, California • Chicago, Illinois • Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 10, 2021 · Synced Sep 24, 2026, 6:12 PM EDT
Completed No phase listed Observational Results available

An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients

NCT00882921
View directory record Official record
Conditions
Hunter Syndrome
Interventions
Idursulfase
Biological
Lead sponsor
Shire
Industry
Eligibility
5 Years and older · Male only
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2013
U.S. locations
2
States / cities
Oakland, California • Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jun 7, 2021 · Synced Sep 24, 2026, 6:12 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Medical Decisions in the Hospital Setting- M-Safety

NCT03757884
View directory record Official record
Conditions
Diagnostic Errors
Interventions
Mindfulness breathing exercise, Diagnostic Checklist, Noise cancelling headphones, Privacy tablescreen, Diagnostic assistance application
Behavioral
Lead sponsor
University of Michigan
Other
Eligibility
18 Years to 99 Years
Enrollment
59 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2019
U.S. locations
2
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Sep 19, 2019 · Synced Sep 24, 2026, 6:12 PM EDT
Completed Phase 3 Interventional

REVEAL - Research With I-124 EVuzamitide to Elucidate Cardiac AmyLoidosis

NCT06788535
View directory record Official record
Conditions
Cardiac Amyloidosis
Interventions
I-124 evuzamitide
Drug
Lead sponsor
Sharmila Dorbala
Other
Eligibility
18 Years and older
Enrollment
204 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
20
States / cities
Scottsdale, Arizona • Duarte, California • San Francisco, California + 16 more
Source: ClinicalTrials.gov public record
Updated Apr 29, 2026 · Synced Sep 24, 2026, 6:12 PM EDT
Completed Phase 3 Interventional Results available

Long-term Safety of Tafamidis in Subjects With Transthyretin Cardiomyopathy

NCT02791230
View directory record Official record
Conditions
Transthyretin (TTR) Amyloid Cardiomyopathy
Interventions
Tafamidis
Drug
Lead sponsor
Pfizer
Industry
Eligibility
18 Years and older
Enrollment
1,733 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2023
U.S. locations
41
States / cities
Birmingham, Alabama • Beverly Hills, California • La Jolla, California + 20 more
Source: ClinicalTrials.gov public record
Updated Feb 2, 2025 · Synced Sep 24, 2026, 6:12 PM EDT
Completed Not applicable Interventional

Improving Safety of Diagnosis and Therapy in the Inpatient Setting

NCT04393909
View directory record Official record
Conditions
Delirium, Confusion, Mental Status Change, Back Pain, Hip Pain Chronic, Chest Pain, Asthma, COPD, Cellulitis, Soft Tissue Infections, Cough, Deep Vein Thrombosis, Pulmonary Embolism, Venous Thromboembolism, Dyspnea, Electrolyte Metabolism Abnormal, Fever, Failure to Thrive, Weakness, Protein-Calorie Malnutrition, Headache, Neck Pain, Hypoxia, Pneumonia, Sepsis, Syncope, Vomiting, Diarrhea, Leg Pain, Abdominal Pain
Interventions
Diagnostic Uncertainty Educational Curriculum, Diagnostic Timeout, Patient Diagnostic (Dx) Questionnaire, Enhancements to Epic-integrated Quality & Safety Dashboard
Behavioral
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years and older
Enrollment
700 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jul 25, 2022 · Synced Sep 24, 2026, 6:12 PM EDT
Terminated Phase 2 Interventional Results available

Phase 2a Study of IW-6463 in Adults Diagnosed With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS)

NCT04475549
View directory record Official record
Conditions
MELAS
Interventions
IW-6463 Tablets
Drug
Lead sponsor
Tisento Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
5
States / cities
Washington D.C., District of Columbia • Baltimore, Maryland • Boston, Massachusetts + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 28, 2024 · Synced Sep 24, 2026, 6:12 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Qualitative Research on Women With Congenital Adrenal Hyperplasia

NCT00559078
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Interview
Other
Lead sponsor
Lehigh University
Other
Eligibility
25 Years to 55 Years · Female only
Enrollment
16 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2007 – 2009
U.S. locations
1
States / cities
Bethlehem, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Nov 8, 2009 · Synced Sep 24, 2026, 6:12 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Clinical Documentation Physician Compensation Incentives

NCT05527977
View directory record Official record
Conditions
Compensation Incentives, Clinical Documentation, Physician Work Environment, Diagnostic Error
Interventions
Compensation Incentives to improve Clinical Documentation
Behavioral
Lead sponsor
Rush University Medical Center
Other
Eligibility
Not listed
Enrollment
32 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2023
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Jan 24, 2024 · Synced Sep 24, 2026, 6:12 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

IN-TANDEM Familial Hypercholesterolemia Pilot Study

NCT03253432
View directory record Official record
Conditions
Familial Hypercholesterolemia
Interventions
Genetic testing
Other
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years and older
Enrollment
378 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2018
U.S. locations
2
States / cities
Lancaster, Pennsylvania • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 27, 2019 · Synced Sep 24, 2026, 6:12 PM EDT
Completed Phase 3 Interventional Accepts healthy volunteers

Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH)

NCT05238519
View directory record Official record
Conditions
Familial Hypercholesterolemia, Cholesterol, Elevated, Genetic Disease
Interventions
Motivational interview (MI)
Behavioral
Lead sponsor
Essentia Health
Other
Eligibility
2 Years to 75 Years
Enrollment
257 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2025
U.S. locations
2
States / cities
Duluth, Minnesota
Source: ClinicalTrials.gov public record
Updated Sep 3, 2026 · Synced Sep 24, 2026, 6:12 PM EDT
Enrolling by invitation No phase listed Observational

Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease

NCT03862274
View directory record Official record
Conditions
Batten Disease, CLN2, Neuronal Ceroid-Lipofuscinoses
Interventions
CLN2 Treatment
Other
Lead sponsor
Jessica Scherr
Other
Eligibility
Not listed
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2025
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Oct 23, 2025 · Synced Sep 24, 2026, 6:12 PM EDT
Not listed No phase listed Observational

Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome

NCT05419245
View directory record Official record
Conditions
Freeman-Burian Syndrome, Freeman-Sheldon Syndrome, Whistling Face Syndrome, Sheldon-Hall Syndrome, Freeman-Sheldon Syndrome Variant, Arthrogryposis Distal Type 1, Arthrogryposis Distal Type 3, Gordon Syndrome
Interventions
Guided Health History for Freeman-Burian Syndrome Questionnaire, Freeman-Burian syndrome Semi-Structured Quality of Life Interview, Medical Records Review, PTSD Checklist for DSM-5, Modified Flanagan Quality of Life Scale, Center for Epidemiologic Studies Depression Scale, Review of Systems, FACE-Q | Craniofacial - Appearance of the Face, FACE-Q | Craniofacial - Appearance Distress, FACE-Q | Craniofacial - Facial Function
Other
Lead sponsor
Dufresne, Craig, MD, PC
Other
Eligibility
Not listed
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
1
States / cities
Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Jul 18, 2022 · Synced Sep 24, 2026, 6:12 PM EDT
Completed No phase listed Observational

Diagnostic and Screening Study of Genetic Disorders

NCT00006057
View directory record Official record
Conditions
Tay-Sachs Disease, Porphyria, Erythropoietic, Leukodystrophy, Globoid Cell, Metabolism, Inborn Errors
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 24, 2026, 6:12 PM EDT
Not listed Not applicable Interventional Accepts healthy volunteers

Handheld Device Compared With a Standard Eye Care Diagnostic Device in Measuring Ophthalmic Refraction

NCT04693247
View directory record Official record
Conditions
Refractive Errors, Vision Disorders
Interventions
EQ103
Device
Lead sponsor
EyeQue Corp.
Industry
Eligibility
18 Years to 65 Years
Enrollment
35 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2023
U.S. locations
1
States / cities
Newark, California
Source: ClinicalTrials.gov public record
Updated Aug 21, 2022 · Synced Sep 24, 2026, 6:12 PM EDT
Completed Not applicable Interventional

Improving Diagnosis and Clinical Management of Familial Hypercholesterolemia Through Integrated Machine Learning, Implementation Science, and Behavioral Economics

NCT05746247
View directory record Official record
Conditions
Familial Hypercholesterolemia
Interventions
Testing centralized referral mechanism for PCPs, Inviting patients to complete a telehealth appointment with a lipid specialist for an FH evaluation
Behavioral
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years and older
Enrollment
610 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 19, 2026 · Synced Sep 24, 2026, 6:12 PM EDT
Completed Phase 3 Interventional Results available

Is Adrenal Insufficiency Under-diagnosed in Hospitalized Cirrhosis Patients?

NCT03368066
View directory record Official record
Conditions
Adrenal Insufficiency, Cirrhosis, Spur Cell Anemia, Lecithin Acyltransferase Deficiency
Interventions
Cosyntropin
Drug
Lead sponsor
University of Virginia
Other
Eligibility
18 Years to 110 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
1
States / cities
Charlottesville, Virginia
Source: ClinicalTrials.gov public record
Updated Dec 8, 2021 · Synced Sep 24, 2026, 6:12 PM EDT
Recruiting Not applicable Interventional

Achieving Diagnostic Excellence Through Prevention and Teamwork

NCT05747755
View directory record Official record
Conditions
Diagnostic Errors
Interventions
ADEPT Program
Behavioral
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years and older
Enrollment
7,200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
2
States / cities
San Francisco, California • Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Sep 7, 2026 · Synced Sep 24, 2026, 6:12 PM EDT
Completed Phase 1Phase 2 Interventional Results available

An Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase-IT in Conjunction With Elaprase in Pediatric Participants With Hunter Syndrome and Cognitive Impairment

NCT01506141
View directory record Official record
Conditions
Hunter Syndrome
Interventions
Idursulfase-IT, Elaprase
Drug
Lead sponsor
Takeda
Industry
Eligibility
3 Years to 18 Years · Male only
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2024
U.S. locations
7
States / cities
Chicago, Illinois • Chapel Hill, North Carolina • Portland, Oregon + 4 more
Source: ClinicalTrials.gov public record
Updated Aug 5, 2025 · Synced Sep 24, 2026, 6:12 PM EDT
Completed Phase 1Phase 2 Interventional Results available

A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®

NCT00920647
View directory record Official record
Conditions
Hunter Syndrome
Interventions
Control, Idursulfase IT (1 mg), Idursulfase IT (10 mg), Idursulfase IT (30 mg)
Other · Drug
Lead sponsor
Shire
Industry
Eligibility
3 Years to 18 Years · Male only
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2012
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 27, 2021 · Synced Sep 24, 2026, 6:12 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Validation of a Diagnostic Test for Glucose-6-phosphate Dehydrogenase (G6PD) Deficiency in Anti-coagulated Blood

NCT04054661
View directory record Official record
Conditions
G6PD Deficiency
Interventions
SD Biosensor STANDARD G6PD Test, Pointe Scientific Test Kit, HemoCue System
Diagnostic Test
Lead sponsor
PATH
Other
Eligibility
18 Years to 65 Years
Enrollment
229 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2020
U.S. locations
1
States / cities
Reading, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Nov 8, 2021 · Synced Sep 24, 2026, 6:12 PM EDT
Completed Not applicable Interventional Results available

Reducing Diagnostic Errors in Primary Care Pediatrics (Project RedDE)

NCT02798354
View directory record Official record
Conditions
Diagnostic Errors
Interventions
Quality Improvement Collaborative
Behavioral
Lead sponsor
Montefiore Medical Center
Other
Eligibility
26 Years and older
Enrollment
13,853 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
1
States / cities
Elk Grove Village, Illinois
Source: ClinicalTrials.gov public record
Updated Dec 15, 2019 · Synced Sep 24, 2026, 6:12 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions

NCT01931644
View directory record Official record
Conditions
All Diagnosed Health Conditions, ADD/ADHD, Alopecia Areata, Ankylosing Spondylitis, Asthma, Atopic Dermatitis Eczema, Beta Thalassemia, Bipolar Disorder, Breast Cancer, Celiac Disease, Cervical Cancer, Chronic Inflammatory Demyelinating Polyneuropathy, Chronic Kidney Diseases, Chronic Obstructive Pulmonary Disease, Colon Cancer, Colorectal Cancer, Crohn's Disease, Cystic Fibrosis, Depression, Diabetes Mellitus, Duchenne Muscular Dystrophy, Endometriosis, Epilepsy, Facioscapulohumeral Muscular Dystrophy, G6PD Deficiency, General Anxiety Disorder, Hepatitis B, Hereditary Hemorrhagic Telangiectasia, HIV/AIDS, Human Papilloma Virus, Huntington's Disease, Idiopathic Thrombocytopenic Purpura, Insomnia, Kidney Cancer, Leukemia, Lung Cancer, Lupus Nephritis, Lymphoma, Melanoma, Multiple Myeloma, Multiple Sclerosis, Myositis, Myotonic Dystrophy, Ovarian Cancer, Pancreatic Cancer, Parkinson's Disease, Polycystic Kidney Diseases, Prostate Cancer, Psoriasis, Psoriatic Arthritis, Rosacea, Scleroderma, Sickle Cell Anemia, Sickle Cell Trait, Sjogren's Syndrome, Skin Cancer, Spinal Muscular Atrophy, Systemic Lupus Erythematosus, Thrombotic Thrombocytopenic Purpura, Trisomy 21, Ulcerative Colitis
Interventions
Not listed
Lead sponsor
Sanguine Biosciences
Industry
Eligibility
18 Years to 100 Years
Enrollment
17,667 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2024
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Apr 17, 2024 · Synced Sep 24, 2026, 6:12 PM EDT