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Showing 25–43 of 19 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Undiagnosed Disease Clear all
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 Jun 10, 2026, 8:10 PM 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 Jun 10, 2026, 8:10 PM 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 Jun 10, 2026, 8:10 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 Jun 10, 2026, 8:10 PM 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 Jun 10, 2026, 8:10 PM 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 Jun 10, 2026, 8:10 PM EDT
Withdrawn No phase listed Observational

The Effectiveness of a Preoperative Blood Pressure Screening Program to Identify Undiagnosed Hypertension in Ambulatory Surgery Patients

NCT03678207
View directory record Official record
Conditions
Hypertension, Perioperative Hypertension
Interventions
Anesthesiologist phone call
Other
Lead sponsor
Hospital for Special Surgery, New York
Other
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Feb 11, 2026 · Synced Jun 10, 2026, 8:10 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 – 2028
U.S. locations
33
States / cities
Birmingham, Alabama • Huntsville, Alabama • Los Angeles, California + 21 more
Source: ClinicalTrials.gov public record
Updated Apr 5, 2026 · Synced Jun 10, 2026, 8:10 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 Jun 10, 2026, 8:10 PM EDT
Completed No phase listed Observational

Natural History of the Leukodystrophies

NCT02843555
View directory record Official record
Conditions
Leukodystrophies
Interventions
Not listed
Lead sponsor
Baylor Research Institute
Other
Eligibility
Not listed
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Mar 21, 2019 · Synced Jun 10, 2026, 8:10 PM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Rare and Undiagnosed Disease Research Biorepository

NCT04703179
View directory record Official record
Conditions
Undiagnosed Disease, Rare Diseases
Interventions
Genetic test evaluation
Other
Lead sponsor
Mayo Clinic
Other
Eligibility
Not listed
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2026
U.S. locations
3
States / cities
Scottsdale, Arizona • Jacksonville, Florida • Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Dec 14, 2025 · Synced Jun 10, 2026, 8:10 PM 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 Jun 10, 2026, 8:10 PM EDT
Completed Not applicable Interventional Results available

Patient Navigator Intervention for Diabetic Retinopathy

NCT05188703
View directory record Official record
Conditions
Diabetic Retinopathy, Diabetic Blindness
Interventions
Patient Navigation
Behavioral
Lead sponsor
Yale University
Other
Eligibility
18 Years and older
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Mar 10, 2026 · Synced Jun 10, 2026, 8:10 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 May 31, 2026 · Synced Jun 10, 2026, 8:10 PM 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 Jun 10, 2026, 8:10 PM EDT
Completed No phase listed Observational Accepts healthy volunteers Results available

Undiagnosed Hepatitis C Infection in an Urban Hospital

NCT01957085
View directory record Official record
Conditions
Hepatitis C
Interventions
observation only
Other
Lead sponsor
Temple University
Other
Eligibility
18 Years and older
Enrollment
366 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2016
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 23, 2020 · Synced Jun 10, 2026, 8:10 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 Jun 10, 2026, 8:10 PM EDT
Completed No phase listed Observational Results available

A Study to Explore the Utility of Fractional Exhaled Nitric Oxide (FeNO) Compared With Methacholine Challenge (MCC) Testing in the Assessment of Patients With Suspected But Undiagnosed Asthma

NCT01648920
View directory record Official record
Conditions
Asthma
Interventions
NIOX MINO® Instrument (09-1100)
Device
Lead sponsor
Aerocrine AB
Industry
Eligibility
7 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012
U.S. locations
8
States / cities
Blue Bell, Pennsylvania • Collegeville, Pennsylvania • Doylestown, Pennsylvania + 5 more
Source: ClinicalTrials.gov public record
Updated Apr 8, 2014 · Synced Jun 10, 2026, 8:10 PM 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 Jun 10, 2026, 8:10 PM EDT