Clinical trials: Undiagnosed Disorders
Barrett Esophagus, Esophageal Adenocarcinoma
Lucid Registry Study
This is a multicenter, prospective, observational study designed to capture a limited set of data consisting of diagnostic test results and clinical management information on subjects who undergo EC/EG to assess for the presence…
- Conditions
- Barrett Esophagus, Esophageal Adenocarcinoma, Barretts Esophagus With Dysplasia, Barrett's Esophagus Without Dysplasia
- Trial name
- Lucid Registry (NCT05965999)
- Testing
- EsoCheck®, EsoGuard®
- Where
- United States
- Volunteers
- 8,000 people
- Sponsor
- Lucid Diagnostics, Inc.
Heart Failure, Diabetes
Using Ultromics EchoGo HFpEF Algorithm to Identify and Treat High Heart Failure Risk in Patients With Type 2 Diabetes
A pragmatic electronic health record (EHR) based randomized controlled trial to evaluate the utility of providing Ultromics EchoGo analysis results and recommendations for HF risk prevention therapies using an EHR embedded…
- Trial name
- NCT06593314
- Testing
- Message with EchoGo, Standard Message
- Where
- United States
- Volunteers
- 800 people
- Sponsor
- University of Texas Southwestern Medical Center
Pleural Effusion
Minirigid Versus Conventional Rigid Thoracoscopy in Undiagnosed Pleural Effusions
Consecutive patients who are planned to undergo a medical thoracoscopy for obtaining pleural biopsies will be enrolled in the study.
- Trial name
- MICRO (NCT03449602)
- Testing
- Mini-thoracoscopy, Conventional rigid thoraoscopy
- Where
- India
- Volunteers
- 100 people
- Sponsor
- Post Graduate Institute of Medical Education and Research, Chandigarh
Intellectual Disability, Multiple Congenital Anomaly
Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital abnormalities and other rare and…
- Conditions
- Intellectual Disability, Multiple Congenital Anomaly, Rare Diseases
- Trial name
- NCT03424772
- Testing
- Whole genome sequencing
- Where
- 14 sites in China
- Volunteers
- 100 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease
Identification of Undiagnosed Lysosomal Acid Lipase Deficiency
Partners HealthCare maintains a Patient Data Registry (PDR) with information from all patient encounters at Partners HealthCare facilities.
- Trial name
- NCT01716728
- Testing
- enzyme analysis
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Massachusetts General Hospital
HIV, Chlamydia
National Rapid TLC: Testing and Linkage to Care
The goal of this cross-sectional study is to learn if the GeneXpert system is a practical system for HIV and STBBI testing in community-based organizations and health clinics.
- Conditions
- HIV, Chlamydia, Gonorrhea, HCV
- Trial name
- NCT07730801
- Testing
- Xpert® HIV-1 Qual XC
- Where
- 2 sites in Canada
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- Unity Health Toronto
HIV, HIV Self-testing
Our Healthbox - Evaluating Interactive Dispensing Systems for Low-Barrier Access to HIV Testing and Harm Reduction.
When REACH Nexus at MAP Centre for Urban Solutions out of St. Michael's Hospital launched its signature program, I'm Ready in 2021, our goal was to democratize access to free HIV self-testing to reach the undiagnosed in Canada.
- Conditions
- HIV, HIV Self-testing, Harm Reduction, Sexually Transmitted Diseases
- Trial name
- NCT05516069
- Testing
- Our Healthbox (smart vending machine or interactive dispensing system)
- Where
- Canada
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Unity Health Toronto
Rare Disease, Undiagnosed Disease
EpiSign International: Expanding Epigenomic Testing in Rare Disease
The purpose of this study is to assess the utility of EpiSign software and an integrated DNA methylation and copy number variant (CNV) microarray technology in helping to diagnose individuals with rare diseases.
- Conditions
- Rare Disease, Undiagnosed Disease, Genetic Diseases, Inborn, Congenital Abnormalities
- Trial name
- NCT07839754
- Testing
- Integrated EPIC/CNV microarray with EpiSign analysis, EpiSign analysis with EPIC DNA methylation microarray
- Where
- United Kingdom
- Volunteers
- 192 people
- Sponsor
- University of Manchester
Undiagnosed Disease, Rare Diseases
Rare and Undiagnosed Disease Research Biorepository
This research study is being done to find markers and identify causes of rare and undiagnosed diseases by analyzing patient's DNA (i.e., genetic material), RNA, plasma, urine, tissues, or other samples that could be informative…
- Trial name
- PRaUD (NCT04703179)
- Testing
- Genetic test evaluation
- Where
- 3 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Asymptomatic HIV, HIV Infections
ID and Testing Via Friendship Networks
This is a pilot study with a cross-sectional research design to recruit Hispanic/Latina and African American adolescent and young adult women, aged 13-24 years to serve as index recruiters, who will in turn recruit members of her…
- Trial name
- NCT00841360
- Testing
- Index Recruiter, Friendship Network Member
- Where
- 3 sites in United States
- Volunteers
- 535 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Undiagnosed IgG4 Related Diseases
Retrospective Study for Diagnosis of Undetected IgG4 Related Diseases in Patients With High Serum IgG4 Levels.
Immunoglobulin G4-related disease (IgG4-RD) is an increasingly recognized syndrome of unknown etiology comprised of a collection of disorders that share specific pathologic, serologic, and clinical features.
- Trial name
- NCT02229448
- Where
- Israel
- Volunteers
- 11 people
- Sponsor
- Meir Medical Center
Asthma
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
Objective: To explore the utility of Fractional Exhaled Nitric Oxide (FeNO) compared with Methacholine Challenge (MCC) testing in assessing patients with suspected but undiagnosed asthma Number of participants: Approximately 50…
- Trial name
- NCT01648920
- Testing
- NIOX MINO® Instrument (09-1100)
- Where
- 8 sites in United States
- Volunteers
- 50 people
- Sponsor
- Aerocrine AB
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Undiagnosed Conditions, Rare Disorders
Gene Discovery Core, The Manton Center
The Gene Discovery Core at The Manton Center for Orphan Disease Research based at Boston Children's Hospital studies families with rare, poorly understood or undiagnosed, but suspected genetic conditions.
- Conditions
- Undiagnosed Conditions, Rare Disorders, Orphan Diseases
- Trial name
- NCT02743845
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Boston Children's Hospital
Genetic Disease
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown.
- Trial name
- NCT02450851
- Where
- 33 sites in United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Rare Genetic Disease, Undiagnosed Diseases
Research for Individualized Therapeutics in Rare Genetic Disease
The purpose of this research study is to identify individuals that have a rare genetic disease without an adequate therapeutic strategy that might be treatable with drug developed to target the disease-causing genetic alteration.
- Trial name
- NCT05236595
- Testing
- Individualized drug matching per genetic disease
- Where
- 3 sites in United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Undiagnosed Disease
Exome and Genome Analysis to Elucidate Genetic Etiologies and Population Characteristics in the Plain Community
This study is designed to utilize whole exome and whole genome sequencing techniques to identify underlying genetic causes for undiagnosed disorders in the Plain Communities, and to do population genetic studies looking at…
- Trial name
- NCT02927158
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- University of Pittsburgh
Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis
Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases
This project aims to identify, through RNA-Seq technology, the genetic alterations underlying undiagnosed rare diseases in pediatric and adult patients with early onset and with negative WES.
- Conditions
- Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis, Autosomal Dominant Polycystic Kidney, Healthy
- Trial name
- ANTHEM (NCT05996731)
- Testing
- Skin biopsy
- Where
- Italy
- Volunteers
- 105 people, healthy volunteers welcome
- Sponsor
- Mario Negri Institute for Pharmacological Research
Point-of-Care Testing, HIV
Ayaangwaamiziwin Initiative: Carefulness and Preparedness
The goal of this clinical trial is to implement a test, treat, and connect intervention approach using HIV and syphilis rapid point-of-care (POC) testing in 3 Canadian Prairie provinces (Alberta, Manitoba, and Saskatchewan)…
- Conditions
- Point-of-Care Testing, HIV, Syphilis
- Trial name
- AI (NCT06893159)
- Testing
- INSTI HIV-1/2 Antibody Test, INSTI Multiplex HIV-1/2 Syphilis Antibody Test, Multiplo Complete Syphilis (TP/nTP) Antibody Test
- Where
- 8 sites in Canada
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Unity Health Toronto
Heart Diseases, Myocardial Diseases
Chagas Disease as an Undiagnosed Type of Cardiomyopathy in the United States
A detailed review was made of data pertinent to the occurrence of chronic Chagas disease in the United States.
- Conditions
- Heart Diseases, Myocardial Diseases, Chagas Disease
- Trial name
- NCT00005455
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)