Clinical trials: Undiagnosed Diseases
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
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
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
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 Diseases, Cardiovascular Disease
Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)
Background: Studies show that rare genetic variants might lead to diseases. Researchers want to collect blood and tissue samples so they can study them and better understand diseases.
- Trial name
- NCT02543996
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Leukodystrophies
Natural History of the Leukodystrophies
The purpose of this study is to: 1. define novel homogeneous groups of patients with LDs and 2. work toward finding the cause of these disorders.
- Trial name
- NCT02843555
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Baylor Research Institute
Rare Diseases, Genetic Disease
UW Undiagnosed Genetic Diseases Program
The primary purpose of this study is to discover new disease genes for rare Mendelian disorders and its secondary purpose include diagnosing people with rare genetic disorders that have not been previously diagnosed through…
- Conditions
- Rare Diseases, Genetic Disease, Undiagnosed Disease
- Trial name
- NCT04586075
- Testing
- Trio Whole Genome Sequencing and Participant-Specific Research
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- University of Wisconsin, Madison
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.
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
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
Genetic Disease, Genetic Syndrome
Diagnostic Odyssey: Whole Genome Sequencing (WGS)
The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-organ disease of unknown etiology by understanding the potential value of…
- Trial name
- NCT03458962
- Testing
- Genetic Enrollees
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Nicklaus Children's Hospital f/k/a Miami Children's Hospital
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
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
Undiagnosed Diseases, Genetic Diseases
The Mayo Clinic Rare and Undiagnosed Disease Hackathon
The purpose of this study is to create a Mayo Clinic biospecimen and data repository to support the evaluation of patients with rare and undiagnosed diseases through a structured, multidisciplinary diagnostic program.
- Conditions
- Undiagnosed Diseases, Genetic Diseases, Rare Diseases
- Trial name
- NCT07714161
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Mayo Clinic
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
Genetic Disease, Pediatrics
Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic Disease
This study will evaluate the effectiveness of SIGHT as a clinical support system to prompt provider/patient discussion and shared decision making regarding the need for genetic testing in the form of a chromosomal microarray.
- Conditions
- Genetic Disease, Pediatrics, Predictive Model, Clinical Decision Support
- Trial name
- SIGHT (NCT06744543)
- Testing
- SIGHT Prompted Provider Message
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Vanderbilt University Medical Center
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
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
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)
Undiagnosed Diseases, Rare Diseases
Genetic Analysis of Uncommon Disease Presentations in Non-US Populations
Background: Genetics research over the past 20 years has helped researchers find the causes of many diseases. More powerful tools for genetic testing now exist.
- Trial name
- NCT06595940
- Where
- Mauritius
- Volunteers
- 400 people
- Sponsor
- National Human Genome Research Institute (NHGRI)