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ClinicalTrials.gov public records Last synced Sep 16, 2026, 4:02 PM EDT

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Showing 1–24 of 45 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Undiagnosed Disease Clear all
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 15, 2026 · Synced Sep 16, 2026, 4:02 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 16, 2026, 4:02 PM EDT
Recruiting Phase 4 Interventional Accepts healthy volunteers

Covid-19 Long Haul Preventative and Health Promotion Care Clinical Trial Acceleration Program.

NCT06441955
View directory record Official record
Conditions
COVID-19, Long Haul
Interventions
Ritonavir-Boosted Nirmatrelvir (Paxlovid), Physiological Evaluation, Moderna COVID-19 Vaccine, Biopsychological, Behavioral (e.g., Psychotherapy, Lifestyle Counseling), Genetic (including gene transfer, stem cell and recombinant DNA), Multidisciplinary approach
Drug · Diagnostic Test · Biological + 3 more
Lead sponsor
Well- Konnect Healthcare Services and Research Firm
Network
Eligibility
18 Years to 65 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Nov 26, 2024 · Synced Sep 16, 2026, 4:02 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 16, 2026, 4:02 PM EDT
Active, not 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 Aug 23, 2026 · Synced Sep 16, 2026, 4:02 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 Sep 16, 2026, 4:02 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Developing a COPD Case Finding Methodology for Primary Care

NCT01880177
View directory record Official record
Conditions
Chronic Obstructive Pulmonary Disease (COPD)
Interventions
Not listed
Lead sponsor
University of Michigan
Other
Eligibility
40 Years and older
Enrollment
346 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2015
U.S. locations
4
States / cities
Lexington, Kentucky • Ann Arbor, Michigan • Omaha, Nebraska + 1 more
Source: ClinicalTrials.gov public record
Updated May 10, 2016 · Synced Sep 16, 2026, 4:02 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 16, 2026, 4:02 PM 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 Sep 14, 2026 · Synced Sep 16, 2026, 4:02 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 9, 2026 · Synced Sep 16, 2026, 4:02 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 Aug 20, 2026 · Synced Sep 16, 2026, 4:02 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 16, 2026, 4:02 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 Sep 16, 2026, 4:02 PM 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 Sep 16, 2026, 4:02 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 16, 2026, 4:02 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 Sep 16, 2026, 4:02 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 16, 2026, 4:02 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 15, 2026 · Synced Sep 16, 2026, 4:02 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 Sep 16, 2026, 4:02 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 Sep 16, 2026, 4:02 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 16, 2026, 4:02 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 Sep 16, 2026, 4:02 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 Sep 16, 2026, 4:02 PM 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 Sep 16, 2026, 4:02 PM EDT