Clinical trials: Undiagnosed Disorders
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
Hepatitis C Virus Infection
Prevalence of HCV in HIV-negative MSM
This study measures the prevalence of undiagnosed hepatitis C virus (HCV) infection in HIV-negative men-who-have-sex-with-men (MSM) visiting the sexual health clinics of public health services (in dutch: gemeentelijke…
- Trial name
- NCT04005248
- Testing
- HCV IgG test
- Where
- Netherlands
- Volunteers
- 4,000 people
- Sponsor
- Erasmus Medical Center
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)
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
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
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
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
Diabetes, Diabetes Mellitus, Type 1
Changing Diabetes® World Tour
This study is conducted in the Middle East, Northern Africa and Europe. The aim of this study is to contribute to the design of a simple screening strategy for countries in scope, by exploring the association between risk factors…
- Conditions
- Diabetes, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2
- Trial name
- NCT01437072
- Testing
- No treatment given
- Where
- 3 sites in Portugal, Saudi Arabia and 1 more
- Volunteers
- 8,304 people
- Sponsor
- Novo Nordisk A/S
Vascular Dysfunction, Genetic Mutations
Vascular Disease Discovery Protocol
Background: Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels.
- Conditions
- Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
- Trial name
- NCT03538639
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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