Clinical trials: Undiagnosed Disease
Gaucher Disease
Identification of Undiagnosed Gaucher Disease
Partners HealthCare maintains a Patient Data Registry (PDR) with information from all patient encounters at Partners HealthCare facilities.
- Trial name
- NCT01716741
- Testing
- Enzyme analysis
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Brigham and Women's Hospital
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.
Atrial Fibrillation, Atrial Flutter
A Study to Determine if Identification of Undiagnosed Atrial Fibrillation in People at Least 70 Years of Age Reduces the Risk of Stroke
The purpose of this study is to determine if an AF detection intervention in men and women at least 70 years of age with undiagnosed atrial fibrillation (AF) or atrial flutter (AFL) reduces the person-years incidence rate of…
- Trial name
- GUARD-AF (NCT04126486)
- Testing
- Zio®XT Monitor
- Where
- 176 sites in United States
- Volunteers
- 11,931 people
- Sponsor
- Bristol-Myers Squibb
Multiple Abnormalities
The Experience of Uncertainty in Parents of Children With an Undiagnosed Medical Condition
Background: Rare and undiagnosed conditions are often chronic and disabling, with symptoms affecting different organ systems at various levels of severity.
- Trial name
- NCT00955370
- Where
- United States
- Volunteers
- 500 people
- 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.
Atrial Fibrillation
A Study to Assess the Effectiveness of an Atrial Fibrillation (AF) Risk Prediction Algorithm and Diagnostic Test in Identifying Patients With AF.
This is a trial to assess the effectiveness of an atrial fibrillation (AF) risk prediction algorithm and diagnostic test for the identification of patients with atrial fibrillation
- Trial name
- PULsE AI (NCT04045639)
- Where
- 6 sites in United Kingdom
- Volunteers
- 260 people
- Sponsor
- Bristol-Myers Squibb
Acute Respiratory Failure, Acute Respiratory Distress Syndrome
Transbronchial Lung Cryobiopsy in Undiagnosed Acute Respiratory Failure
In patients with acute hypoxemic respiratory failure whose diagnosis is not established after initial evaluation, obtaining a histopathological diagnosis may improve the patients' prognosis.
- Trial name
- NCT05754866
- Testing
- Transbronchial lung cryobiopsy, Transbronchial lung biopsy
- Where
- 6 sites in China
- Volunteers
- 100 people
- Sponsor
- China-Japan Friendship Hospital
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
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
Palpitations
Use of Loop Recorders for Diagnosis of Palpitations in A&E
Heart rhythm abnormalities underlie one of the common presenting complaints to the A\&E and out-patient departments, specifically awareness of heart beats or palpitations.
- Trial name
- LIAISE (NCT01170559)
- Testing
- Implantable Loop Recorder
- Where
- United Kingdom
- Volunteers
- 56 people
- Sponsor
- Barts & The London NHS Trust
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
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
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
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
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
Disorder of Pleura and Pleural Cavity
Thoracoscopic Pleural Lavage and Brushing in Undiagnosed Pleural Effusion
1. To evaluate the diagnostic yield and safety of thoracoscopic pleural lavage and pleural brushing in cases of undiagnosed exudative pleural effusion.
- Trial name
- NCT06066398
- Testing
- medical thoracoscope, Forceps biopsy and pleural brush histopathology, pleural lavage cytology
- Volunteers
- 60 people
- Sponsor
- Assiut University
Diabetes
Diabetes Prevention for Black Men
Geographic analyses of diabetes burden have found that poor glycemic control, high rates of diabetes-related hospital utilization, and a high prevalence of microvascular diabetic complications all cluster in the same…
- Trial name
- NCT03708380
- Testing
- Dietary intervention
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- NYU Langone Health
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
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)
Respiratory Symptoms
Belgian Pulmonary Function Study
Pulmonary function tests including spirometry, lung volumes, measurements of resistance and diffusing capacity are essential in the diagnosis of several pulmonary diseases.
- Trial name
- BPFS (NCT01297881)
- Where
- Belgium
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Marc Decramer