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Showing 1–24 of 44 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Undiagnosed Disease Clear all
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 Jul 22, 2026, 2:06 AM 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 Jul 16, 2026 · Synced Jul 22, 2026, 2:06 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Exome and Genome Analysis to Elucidate Genetic Etiologies and Population Characteristics in the Plain Community

NCT02927158
View directory record Official record
Conditions
Undiagnosed Disease
Interventions
Not listed
Lead sponsor
University of Pittsburgh
Other
Eligibility
Up to 100 Years
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2040
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 9, 2026 · Synced Jul 22, 2026, 2:06 AM EDT
Terminated Not applicable Interventional

Diabetes Prevention for Black Men

NCT03708380
View directory record Official record
Conditions
Diabetes
Interventions
Dietary intervention
Behavioral
Lead sponsor
NYU Langone Health
Other
Eligibility
18 Years and older
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 10, 2021 · Synced Jul 22, 2026, 2:06 AM EDT
Not listed Not applicable Interventional

Identification of Undiagnosed Lysosomal Acid Lipase Deficiency

NCT01716728
View directory record Official record
Conditions
Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease
Interventions
enzyme analysis
Other
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
Not listed
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Aug 12, 2013 · Synced Jul 22, 2026, 2:06 AM EDT
Completed No phase listed Observational

Pneumonia in the ImmunoCompromised - Use of the Karius Test for the Detection of Undiagnosed Pathogens

NCT04047719
View directory record Official record
Conditions
Pneumonia, Bacterial, Pneumonia, Viral, Pneumonia Fungal, Pneumonia Cavitary, Immunocompromised Host
Interventions
Karius Test
Diagnostic Test
Lead sponsor
Karius, Inc.
Industry
Eligibility
18 Years to 80 Years
Enrollment
257 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
10
States / cities
Duarte, California • San Francisco, California • Aurora, Colorado + 6 more
Source: ClinicalTrials.gov public record
Updated Feb 8, 2023 · Synced Jul 22, 2026, 2:06 AM 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 Jul 22, 2026, 2:06 AM 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 – 2028
U.S. locations
33
States / cities
Birmingham, Alabama • Huntsville, Alabama • Los Angeles, California + 21 more
Source: ClinicalTrials.gov public record
Updated Jul 16, 2026 · Synced Jul 22, 2026, 2:06 AM 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 Jul 22, 2026, 2:06 AM 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 Jul 22, 2026, 2:06 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

A Self Selected Population Study of Undiagnosed NAFLD and NASH, Using an Echosens FibroScan, in at Risk Populations

NCT03726827
View directory record Official record
Conditions
NAFLD, NASH - Nonalcoholic Steatohepatitis, Cirrhosis, Liver, Fatty Liver
Interventions
Fibroscan screening
Other
Lead sponsor
Fatty liver Foundation
Other
Eligibility
18 Years and older
Enrollment
1,006 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2019
U.S. locations
1
States / cities
Texas City, Texas
Source: ClinicalTrials.gov public record
Updated Sep 22, 2019 · Synced Jul 22, 2026, 2:06 AM 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 Jul 22, 2026, 2:06 AM EDT
Terminated No phase listed Observational

Multiple Biomarkers in Undiagnosed Pleural Effusion

NCT00316134
View directory record Official record
Conditions
Pleural Effusion, Pleural Effusion, Malignant
Interventions
Procedure/Surgery
Procedure
Lead sponsor
Fujirebio Diagnostics, Inc.
Industry
Eligibility
18 Years and older
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2008
U.S. locations
1
States / cities
Malvern, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Nov 7, 2011 · Synced Jul 22, 2026, 2:06 AM EDT
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 Jul 22, 2026, 2:06 AM EDT
Recruiting No phase listed Observational

Diagnostic Odyssey: Whole Genome Sequencing (WGS)

NCT03458962
View directory record Official record
Conditions
Genetic Disease, Genetic Syndrome
Interventions
Genetic Enrollees
Genetic
Lead sponsor
Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Other
Eligibility
Up to 21 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2070
U.S. locations
1
States / cities
Miami, Florida
Source: ClinicalTrials.gov public record
Updated Nov 6, 2024 · Synced Jul 22, 2026, 2:06 AM 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 Jul 22, 2026, 2:06 AM EDT
Completed No phase listed Observational

The Experience of Uncertainty in Parents of Children With an Undiagnosed Medical Condition

NCT00955370
View directory record Official record
Conditions
Multiple Abnormalities
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2012
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Jul 22, 2026, 2:06 AM 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 Jul 22, 2026, 2:06 AM 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 Jul 22, 2026, 2:06 AM EDT
Terminated Phase 3 Interventional Results available

Pralatrexate vs Observation Following CHOP-based Chemotherapy in Undiagnosed Peripheral T-cell Lymphoma Patients

NCT01420679
View directory record Official record
Conditions
Peripheral T-cell Lymphoma
Interventions
Pralatrexate Injection
Drug
Lead sponsor
Spectrum Pharmaceuticals, Inc
Industry
Eligibility
18 Years and older
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2017
U.S. locations
3
States / cities
Novi, Michigan • New York, New York
Source: ClinicalTrials.gov public record
Updated Nov 18, 2021 · Synced Jul 22, 2026, 2:06 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Seroprevalence of SARS CoV 2 Antibodies in Previously Undiagnosed Healthcare Workers

NCT04383587
View directory record Official record
Conditions
SARS-CoV 2, COVID-19
Interventions
Serologic testing
Other
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020
U.S. locations
1
States / cities
Jacksonville, Florida
Source: ClinicalTrials.gov public record
Updated Apr 12, 2022 · Synced Jul 22, 2026, 2:06 AM EDT
Terminated Not applicable Interventional Accepts healthy volunteers

Project 1: ACHIEVE- HTN

NCT05295758
View directory record Official record
Conditions
Hypertension, Undiagnosed Diseases
Interventions
PAL2
Behavioral
Lead sponsor
Wayne State University
Other
Eligibility
18 Years to 95 Years
Enrollment
8 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2024
U.S. locations
1
States / cities
Detroit, Michigan
Source: ClinicalTrials.gov public record
Updated Jun 9, 2024 · Synced Jul 22, 2026, 2:06 AM 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 Jul 22, 2026, 2:06 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Caregiving Networks Across Disease Context and the Life Course

NCT05007990
View directory record Official record
Conditions
Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs, Diabetes
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
2,800 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 13, 2026 · Synced Jul 22, 2026, 2:06 AM EDT