Clinical trials: Undiagnosed Diseases, active
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
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
Hereditary Diseases, Critical Illness
UW ISeqU: Clinical Impact of Whole-genome Sequencing in Adults
The goal of this study is to learn how clinical whole genome sequencing can help identify diagnoses and guide medical care in adults.
- Trial name
- NCT07718971
- Testing
- Genome sequencing
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- University of Washington
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)
Structural Heart Abnormality, Valve Heart Disease
Capitalizing on AI to CapTure Undiagnosed Structural Heart Disease
Doctors are testing a new tool called EchoNext to see if it can help find heart problems earlier. EchoNext looks at the heart's electrical test, called an ECG, and uses artificial intelligence (AI) to check for signs of…
- Conditions
- Structural Heart Abnormality, Valve Heart Disease, Heart Diseases, Cardiovascular Diseases
- Trial name
- CACTUS (NCT07843004)
- Testing
- EHR Alert
- Where
- United States
- Volunteers
- 4,000 people
- Sponsor
- Pierre Elias
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
Myasthenia Gravis, Neuromuscular Disease
Validation and Scaling of Screening Program for Undiagnosed Myasthenia Gravis-Social Media Campaign Paired With a Self-moderated Assessment
This study expands and validates the pilot study NCT06381284. It is a fully remote, site-less, prospective, observational study enrolling adults in the United States (excluding U.S.
- Conditions
- Myasthenia Gravis, Neuromuscular Disease, Neuromuscular Manifestations
- Trial name
- NCT06866483
- Testing
- Social media recruitment, Self-Assessment, Follow-up
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- ZS Associates
Inherited Metabolic Disorders, Undiagnosed Diseases
Caregiving Networks Across Disease Context and the Life Course
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others.
- Conditions
- Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs
- Trial name
- NCT05007990
- Where
- United States
- Volunteers
- 2,800 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
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
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
COVID-19, Long Haul
Covid-19 Long Haul Preventative and Health Promotion Care Clinical Trial Acceleration Program.
Investigators are conducting a study on alternative treatments for patients who have received an current or previous positive COVID-19 diagnosis with mild-serve symptoms or undiagnosable condition after testing positive for…
- Trial name
- NCT06441955
- Testing
- Ritonavir-Boosted Nirmatrelvir (Paxlovid), Physiological Evaluation, Moderna COVID-19 Vaccine
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Well- Konnect Healthcare Services and Research Firm
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
Multiple Sclerosis, Parkinson Disease
Gait and Balance Impairment in Rare and Very Rare Neurological Diseases
Rare and very rare neurological diseases primarily or exclusively affect the nervous system with a prevalence of < 5 out of 10'000 and 100'000 people, respectively.
- Conditions
- Multiple Sclerosis, Parkinson Disease, Peripheral Neuropathy, Rare Diseases
- Trial name
- GALVANISE (NCT06343558)
- Testing
- Questionnaires, clinical scales and instrumental tests
- Where
- 2 sites in Italy
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Istituto Auxologico Italiano
Heart Failure, Diabetes Mellitus
Targeted Assessment in High-Risk paTients With dIAbetes to ideNtify Undiagnosed Heart Failure
This is a prospective, multicentre, unblinded, randomised, controlled trial. The primary aim is to assess a targeted screening strategy to detect undiagnosed heart failure in high-risk patients with diabetes.
- Conditions
- Heart Failure, Diabetes Mellitus, Type 1 Diabetes, Type 2 Diabetes
- Trial name
- TARTAN-HF (NCT05705869)
- Testing
- NT-proBNP
- Where
- 2 sites in United Kingdom
- Volunteers
- 706 people
- Sponsor
- NHS Greater Glasgow and Clyde
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
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
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
COPD, Coronary Artery Calcification
Quebec Lung Cancer Screening PLUS Trial
Does an educational intervention for untreated COPD and cardiovascular disease which is integrated in an existing lung cancer screening program improve guideline concordant medication adherence at 12 months
- Trial name
- QLC+ (NCT05444062)
- Testing
- Educational material and treatment recommendations for patients, general practitioners and pharmacists
- Where
- Canada
- Volunteers
- 330 people
- Sponsor
- Nicole Ezer, MD, FRCPC, MPH