Clinical trials: Undiagnosed Disease
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
Chronic Obstructive Pulmonary Disease (COPD)
Developing a COPD Case Finding Methodology for Primary Care
The purpose of this qualitative work is to inform the content and structure of a new screening measure for identifying undiagnosed at-risk COPD cases in primary care and support content validity of the measure.
- Trial name
- NCT01880177
- Where
- 4 sites in United States
- Volunteers
- 346 people, healthy volunteers welcome
- Sponsor
- University of Michigan
Hepatitis C
Undiagnosed Hepatitis C Infection in an Urban Hospital
The Centers for Disease Control and Prevention estimates that there are approximately 3.2 million people in the United States infected with hepatitis C and a significant percentage of these patients are unaware of their…
- Trial name
- NCT01957085
- Testing
- observation only
- Where
- United States
- Volunteers
- 366 people, healthy volunteers welcome
- Sponsor
- Temple University
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)
Undiagnosed Disease, Healthy Volunteer (Adult With Typically Developing Child)
Inherited Diseases, Caregiving, and Social Networks
Approximately 66 million informal caregivers care for someone who is ill, disabled, or aged. These caregivers experience significant distress associated with caregiving, which may be particularly salient in the context of…
- Conditions
- Undiagnosed Disease, Healthy Volunteer (Adult With Typically Developing Child), Inherited Neurodegenerative Disorders, Inherited Metabolic Disorders (Inborn Errors of Metabolism)
- Trial name
- NCT01498263
- Where
- 2 sites in United States
- Volunteers
- 682 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Diabetes Mellitus, Type 2
Screening for Undiagnosed Type 2 Diabetes in New Classes of Subjects at High Risk
The study aims to evaluate IFG, IGT or unknown type 2 diabetes mellitus in new classes at high risk to develop alterations of glucose metabolism and definition of new pathogenic mechanisms of insulin resistance and…
- Trial name
- NCT00520962
- Where
- Italy
- Volunteers
- 1,997 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele
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)
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
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
Chronic Obstructive Pulmonary Disease
Prevalence of Undiagnosed Chronic Obstructive Pulmonary Disease Sufferers in the Region of Murcia
The purpose of this study is determine the prevalence of undiagnosed Chronic Obstructive Pulmonary Disease (COPD) in population served and with exposure to cigarettes in the Region of Murcia
- Trial name
- NCT01380470
- Where
- Spain
- Volunteers
- 1,052 people, healthy volunteers welcome
- Sponsor
- Fundacion para la Formacion e Investigacion Sanitarias de la Region de Murcia
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
Pre-diabetes, Undiagnosed Diseases
A Pivotal Clinical Investigation Confirming the Safety and Accuracy of the Glyconics-DS in Assessment of Glycated Nail Keratin in Individuals With Unknown Diabetes Status and Performance Evaluation of the Glyconics SW Package
The main clinical study objective is to confirm the accuracy of the Glyconics-DS spectrometer when used in its intended medical purpose population, i.e., in individuals with unknown diabetes risk.
- Trial name
- ANODE03 (NCT06261944)
- Testing
- Near-infrared (NIR)
- Where
- Spain
- Volunteers
- 486 people, healthy volunteers welcome
- Sponsor
- Glyconics Ltd
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
Diabetes Mellitus
Prediction to Detect Pre-DM/DM in a Chinese Population
This project will compare the sensitivity and specificity of different screening criteria or recommendations to detect pre-diabetes or diabetes mellitus in a Chinese population, using point-of-care hemoglobin A1c.
- Trial name
- NCT05116319
- Testing
- point-of-care HbA1c
- Where
- Hong Kong
- Volunteers
- 1,901 people, healthy volunteers welcome
- Sponsor
- Chinese University of Hong Kong
Obstructive Sleep Apnea
The Incidence of Undiagnosed OSA Compared in Multi-ethic Races of Malaysia & the Associated Postoperative Complications
Obstructive sleep apnoea (OSA) is a condition in which a person's sleep is disrupted with momentary periods of apnoea and hypopnoea. This occurs when there is a blockage to airflow.
- Trial name
- NCT02127099
- Where
- Malaysia
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- University of Malaya
Aortic Stenosis
ECG-based AI Screening for Cases of Undiagnosed Moderate-to-Severe Aortic Stenosis in the Primary Care Setting
The goal of this observational study is to learn whether AccurKardia's AK-AVS algorithm can help identify moderate-to-severe aortic stenosis (AS), a narrowing of the heart's aortic valve, in older adults who have not yet been…
- Trial name
- NCT07827105
- Testing
- AK-AVS
- Where
- United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- AccurKardia, Inc.
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)