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ClinicalTrials.gov public records Last synced Jul 23, 2026, 2:20 PM EDT

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Showing 25–45 of 21 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Undiagnosed Diseases Clear all
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 Jul 23, 2026, 2:20 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 Jul 16, 2026 · Synced Jul 23, 2026, 2:20 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 Jul 23, 2026, 2:20 PM 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 23, 2026, 2:20 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 Jul 23, 2026, 2:20 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 Jul 15, 2026 · Synced Jul 23, 2026, 2:20 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 Jul 23, 2026, 2:20 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 Jul 23, 2026, 2:20 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 Jul 13, 2026 · Synced Jul 23, 2026, 2:20 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 Jul 23, 2026, 2:20 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 Jul 23, 2026, 2:20 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 Jul 23, 2026, 2:20 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 Jul 23, 2026, 2:20 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 Jul 23, 2026, 2:20 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 Jul 23, 2026, 2:20 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 Jul 7, 2026 · Synced Jul 23, 2026, 2:20 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 Jul 23, 2026, 2:20 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 Jul 23, 2026, 2:20 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 Jul 23, 2026, 2:20 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 Jul 23, 2026, 2:20 PM 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 23, 2026, 2:20 PM EDT