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ClinicalTrials.gov public records Last synced Sep 29, 2026, 6:59 PM EDT

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Showing 25–47 of 23 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Filters: Condition: Undiagnosed Disease Clear all
Recruiting No phase listed Observational

Gene Discovery Core, The Manton Center

NCT02743845
View directory record Official record
Conditions
Undiagnosed Conditions, Rare Disorders, Orphan Diseases
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
10,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 24, 2026 · Synced Sep 29, 2026, 6:59 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Validation and Scaling of Screening Program for Undiagnosed Myasthenia Gravis-Social Media Campaign Paired With a Self-moderated Assessment

NCT06866483
View directory record Official record
Conditions
Myasthenia Gravis, Neuromuscular Disease, Neuromuscular Manifestations
Interventions
Social media recruitment, Self-Assessment, Follow-up
Behavioral
Lead sponsor
ZS Associates
Industry
Eligibility
18 Years and older
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025
U.S. locations
1
States / cities
Evanston, Illinois
Source: ClinicalTrials.gov public record
Updated Mar 9, 2025 · Synced Sep 29, 2026, 6:59 PM EDT
Completed No phase listed Observational

Gender Differences in Prevalence of Undiagnosed Diabetes in ACS

NCT00589459
View directory record Official record
Conditions
Pre-diabetes, Diabetes
Interventions
Not listed
Lead sponsor
Yale University
Other
Eligibility
30 Years and older
Enrollment
103 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2008
U.S. locations
2
States / cities
Bridgeport, Connecticut • New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Aug 29, 2023 · Synced Sep 29, 2026, 6:59 PM EDT
Recruiting No phase listed Observational

UW Undiagnosed Genetic Diseases Program

NCT04586075
View directory record Official record
Conditions
Rare Diseases, Genetic Disease, Undiagnosed Disease
Interventions
Trio Whole Genome Sequencing and Participant-Specific Research
Diagnostic Test
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
Up to 100 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2030
U.S. locations
1
States / cities
Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated May 28, 2026 · Synced Sep 29, 2026, 6:59 PM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Research for Individualized Therapeutics in Rare Genetic Disease

NCT05236595
View directory record Official record
Conditions
Rare Genetic Disease, Undiagnosed Diseases
Interventions
Individualized drug matching per genetic disease
Other
Lead sponsor
Mayo Clinic
Other
Eligibility
Not listed
Enrollment
50 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2026
U.S. locations
3
States / cities
Scottsdale, Arizona • Jacksonville, Florida • Minneota, Minnesota
Source: ClinicalTrials.gov public record
Updated Jan 19, 2026 · Synced Sep 29, 2026, 6:59 PM EDT
Enrolling by invitation No phase listed Observational

UW ISeqU: Clinical Impact of Whole-genome Sequencing in Adults

NCT07718971
View directory record Official record
Conditions
Hereditary Diseases, Critical Illness
Interventions
Genome sequencing
Genetic
Lead sponsor
University of Washington
Other
Eligibility
18 Years to 50 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2032
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Jul 21, 2026 · Synced Sep 29, 2026, 6:59 PM EDT
Completed No phase listed Observational

Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequencing

NCT03605004
View directory record Official record
Conditions
Undiagnosed Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
2
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated May 10, 2020 · Synced Sep 29, 2026, 6:59 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

ID and Testing Via Friendship Networks

NCT00841360
View directory record Official record
Conditions
Asymptomatic HIV, HIV Infections
Interventions
Index Recruiter, Friendship Network Member
Other
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
13 Years to 24 Years · Female only
Enrollment
535 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2010
U.S. locations
3
States / cities
Miami, Florida • Chicago, Illinois • The Bronx, New York
Source: ClinicalTrials.gov public record
Updated Feb 27, 2017 · Synced Sep 29, 2026, 6:59 PM EDT
Completed No phase listed Observational

CLassification of Axial SpondyloarthritiS Inception Cohort

NCT03993847
View directory record Official record
Conditions
Spondyloarthritis
Interventions
Not listed
Lead sponsor
Spondyloarthritis Research and Treatment Network
Network
Eligibility
18 Years and older
Enrollment
501 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
15
States / cities
Long Beach, California • Mather, California • San Francisco, California + 11 more
Source: ClinicalTrials.gov public record
Updated Dec 7, 2022 · Synced Sep 29, 2026, 6:59 PM EDT
Not yet recruiting 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 Jul 19, 2026 · Synced Sep 29, 2026, 6:59 PM EDT
Completed Phase 4 Interventional

A Study to Determine if Identification of Undiagnosed Atrial Fibrillation in People at Least 70 Years of Age Reduces the Risk of Stroke

NCT04126486
View directory record Official record
Conditions
Atrial Fibrillation, Atrial Flutter
Interventions
Zio®XT Monitor
Other
Lead sponsor
Bristol-Myers Squibb
Industry
Eligibility
70 Years and older
Enrollment
11,931 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2023
U.S. locations
176
States / cities
Birmingham, Alabama • Guntersville, Alabama • Montgomery, Alabama + 141 more
Source: ClinicalTrials.gov public record
Updated Jul 11, 2023 · Synced Sep 29, 2026, 6:59 PM EDT
Completed Not applicable Interventional

Prospective Study of Undiagnosed Celiac Disease

NCT01317914
View directory record Official record
Conditions
Celiac Disease
Interventions
Dietary instruction
Other
Lead sponsor
Mayo Clinic
Other
Eligibility
60 Years and older
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2012
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Oct 1, 2017 · Synced Sep 29, 2026, 6:59 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Vascular Disease Discovery Protocol

NCT03538639
View directory record Official record
Conditions
Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
2 Years to 100 Years
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2037
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 17, 2026 · Synced Sep 29, 2026, 6:59 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Expediting Myasthenia Gravis (MG) Diagnostic Evaluation: A Novel, Proof-of-Concept for Undiagnosed, Symptomatic Patients That Uses Social Media Targeting and Self-Assessment

NCT06381284
View directory record Official record
Conditions
Myasthenia Gravis, Neuromuscular Manifestations, Neuromuscular Diseases
Interventions
Social media recruitment, Self-Assessment, Follow-up
Behavioral
Lead sponsor
ZS Associates
Industry
Eligibility
18 Years and older
Enrollment
215 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2025
U.S. locations
1
States / cities
Evanston, Illinois
Source: ClinicalTrials.gov public record
Updated Mar 24, 2025 · Synced Sep 29, 2026, 6:59 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)

NCT02543996
View directory record Official record
Conditions
Undiagnosed Diseases, Cardiovascular Disease
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
1 Month to 100 Years
Enrollment
10,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2050
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 21, 2026 · Synced Sep 29, 2026, 6:59 PM EDT
Completed No phase listed Observational

The Role of Uncertainty in Coping: The Experience of Parents of Children With Undiagnosed Medical Conditions

NCT01905865
View directory record Official record
Conditions
Undiagnosed Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 115 Years
Enrollment
168 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2013
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 16, 2026 · Synced Sep 29, 2026, 6:59 PM EDT
Completed No phase listed Observational

REVEAL-CKD: Prevalence and Consequences of Undiagnosed Chronic Kidney Disease

NCT04847531
View directory record Official record
Conditions
Chronic Kidney Disease
Interventions
Not listed
Lead sponsor
AstraZeneca
Industry
Eligibility
18 Years and older
Enrollment
1,006,361 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
3
States / cities
Louisville, Kentucky • Cambridge, Massachusetts • Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Dec 15, 2024 · Synced Sep 29, 2026, 6:59 PM EDT
Recruiting Not applicable Interventional

Using Ultromics EchoGo HFpEF Algorithm to Identify and Treat High Heart Failure Risk in Patients With Type 2 Diabetes

NCT06593314
View directory record Official record
Conditions
Heart Failure, Diabetes
Interventions
Message with EchoGo, Standard Message
Behavioral
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
Not listed
Enrollment
800 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated May 6, 2026 · Synced Sep 29, 2026, 6:59 PM EDT
Active, not recruiting Not applicable Interventional

Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic Disease

NCT06744543
View directory record Official record
Conditions
Genetic Disease, Pediatrics, Predictive Model, Clinical Decision Support
Interventions
SIGHT Prompted Provider Message
Device
Lead sponsor
Vanderbilt University Medical Center
Other
Eligibility
1 Year to 20 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Sep 23, 2025 · Synced Sep 29, 2026, 6:59 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network

NCT02450851
View directory record Official record
Conditions
Genetic Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 100 Years
Enrollment
20,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2099
U.S. locations
33
States / cities
Birmingham, Alabama • Huntsville, Alabama • Los Angeles, California + 21 more
Source: ClinicalTrials.gov public record
Updated Sep 17, 2026 · Synced Sep 29, 2026, 6:59 PM EDT
Not listed Not applicable Interventional

Identification of Undiagnosed Gaucher Disease

NCT01716741
View directory record Official record
Conditions
Gaucher Disease
Interventions
Enzyme analysis
Other
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 29, 2012 · Synced Sep 29, 2026, 6:59 PM EDT
Completed Not applicable Interventional

Undiagnosed Diabetes in a Dental Setting

NCT01711385
View directory record Official record
Conditions
Prediabetic State, Type 2 Diabetes Mellitus With Oral Complications, Periodontal Pocket, Tooth Loss
Interventions
Enhanced intervention
Behavioral
Lead sponsor
Columbia University
Other
Eligibility
30 Years and older
Enrollment
101 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2013
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Aug 16, 2021 · Synced Sep 29, 2026, 6:59 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Inherited Diseases, Caregiving, and Social Networks

NCT01498263
View directory record Official record
Conditions
Undiagnosed Disease, Healthy Volunteer (Adult With Typically Developing Child), Inherited Neurodegenerative Disorders, Inherited Metabolic Disorders (Inborn Errors of Metabolism), Alzheimer's Disease and Related Dementias
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
682 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2012
U.S. locations
2
States / cities
Bethesda, Maryland • Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Sep 27, 2026 · Synced Sep 29, 2026, 6:59 PM EDT