Clinical trials: Diagnostic Error
Hereditary Tyrosinemia, Type I
Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1
The purpose of this study is to look at the steady-state serum concentrations of nitisinone when switching from twice daily and once daily dosing.
- Trial name
- HT-1 (NCT02323529)
- Testing
- Nitisinone
- Where
- 6 sites in Belgium, Denmark and 3 more
- Volunteers
- 18 people
- Sponsor
- Swedish Orphan Biovitrum
G6PD Deficiency
Validation of a Diagnostic Test for Glucose-6-phosphate Dehydrogenase (G6PD) Deficiency in Anti-coagulated Blood
The primary objective of the study is to assess the accuracy of the SD Biosensor STANDARD™ point-of-care (POC) G6PD test in measuring G6PD activity and classifying results compared to a reference assay and across repeated…
- Trial name
- NCT04054661
- Testing
- SD Biosensor STANDARD G6PD Test, Pointe Scientific Test Kit, HemoCue System
- Where
- United States
- Volunteers
- 229 people, healthy volunteers welcome
- Sponsor
- PATH
Amyloid, Amyloid Cardiomyopathy
18F-florbetaben PET-CT to Non-invasively Diagnose Cardiac AL Amyloidosis
Amyloidoses are systemic or acquired disorders characterized by the deposition in the extracellular spaces of amyloid fibers formed by proteins codified by mutated genes or non-mutated but misfolded proteins.
- Trial name
- PETAL (NCT06048601)
- Testing
- 18F-florbetaben PET/CT
- Where
- Italy
- Volunteers
- 150 people
- Sponsor
- Fondazione Toscana Gabriele Monasterio
Multiple Anomalies, Dysmorphic Features
Evaluating Face-Recognition Technology in Syndrome Diagnosis
Birth defects are relatively common, occurring in 1 in 40 live born babies. They can be single, or multiple. They may occur as part of multiple malformation syndromes, often in association with growth disturbance or intellectual…
- Conditions
- Multiple Anomalies, Dysmorphic Features, Inborn Errors of Metabolism
- Trial name
- NCT04709965
- Testing
- Face2Gene
- Where
- United Kingdom
- Volunteers
- 111 people
- Sponsor
- Manchester University NHS Foundation Trust
Amyloidosis, Paraproteinemias
Prospective Identification of Cardiac Amyloidosis by Cardiac Magnetic Resonance Imaging
Cardiac amyloidosis describes a process by which abnormally folded proteins infiltrate the heart tissue. Given the insidious nature of this disease process, diagnosis is often too late for a meaningful intervention.
- Conditions
- Amyloidosis, Paraproteinemias, Cardiomyopathies
- Trial name
- PICA-CMR (NCT02462213)
- Testing
- Amyloidosis, Cardiac Amyloidosis
- Where
- United States
- Sponsor
- University of Cincinnati
Freeman-Burian Syndrome, Freeman-Sheldon Syndrome
Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
The purpose of this study is to evaluate the difference in diagnosis accuracy, treatment outcomes, patient perspectives, facial function and walking ability, emotional and social health, and respiratory complications between…
- Conditions
- Freeman-Burian Syndrome, Freeman-Sheldon Syndrome, Whistling Face Syndrome, Sheldon-Hall Syndrome
- Trial name
- FINDFSS (NCT05419245)
- Testing
- Guided Health History for Freeman-Burian Syndrome Questionnaire, Freeman-Burian syndrome Semi-Structured Quality of Life Interview, Medical Records Review
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Dufresne, Craig, MD, PC
Danon Disease, Fabry Disease
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies.
- Conditions
- Danon Disease, Fabry Disease, Cardiac Amyloidosis, Noonan Syndrome
- Trial name
- NCT07336394
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital
Tuberculosis
HRZE Fasted/Fed in Newly Diagnosed TB
WHO recommends to take TB drugs while fasting: if TB drugs are taken with food, perhaps drug concentrations are too low; on the other hand: if this is not tolerated, drugs could also be taken with food.
- Trial name
- FASTFOOD (NCT02121314)
- Testing
- intravenous administration of 1st line TB drugs, day 1
- Where
- Indonesia
- Volunteers
- 20 people
- Sponsor
- University Medical Center Groningen
Electrocardiogram, Cardiovascular Abnormalities
Evaluation of Clinical Intelligence Support to Reduce Errors in Normal ECGs
This study will evaluate the performance of specialist physicians in interpreting normal electrocardiograms (ECGs) with and without the assistance of an artificial intelligence (AI) neural network.
- Trial name
- PRECISE-ECG (NCT07179185)
- Testing
- AI-Assisted ECG Interpretation (AI-ECG), Specialist ECG Interpretation Without AI
- Volunteers
- 710 people
- Sponsor
- Federal University of Minas Gerais
Fabry Disease
Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease
Primary Objective: To assess the long-term safety of GZ/SAR402671 in adult male participants with Fabry disease who previously completed study ACT13739 (NCT02489344).
- Trial name
- NCT02489344
- Testing
- GZ/SAR402671
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 8 people
- Sponsor
- Genzyme, a Sanofi Company
Cardiac Amyloidosis, Left Ventricular Hypertrophy
Detection of Cardiac Amyloidosis Using Right Ventricular Sensing Amplitude in Patients With Left Ventricular Hypertrophy
This multicenter prospective study aims to evaluate the diagnostic performance of right ventricular sensing amplitude measured during cardiac implantable electronic device (CIED) implantation (pacemaker or defibrillator) to…
- Conditions
- Cardiac Amyloidosis, Left Ventricular Hypertrophy, Conduction Abnormality
- Trial name
- DETECT-AMY (NCT07734285)
- Testing
- Cardiac amyloidosis screening during CIED implantation
- Volunteers
- 242 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Lysosomal Acid Lipase Deficiency
Lysosomal Acid Lipase Deficiency in Risk Groups
A multicenter real-world observational study of the prevalence, diagnostic pathways, and clinical characteristics of lysosomal acid lipase deficiency in pediatric and adolescent risk groups in the Russian Federation (HELIOS)
- Trial name
- HELIOS (NCT07455864)
- Where
- 2 sites in Russia
- Volunteers
- 25 people
- Sponsor
- AstraZeneca
Hypertension (HTN), Hyperhomocysteinemia
Homocysteine and Early Diastolic Dysfunction in Newly Diagnosed Hypertension
This prospective single-center observational study aims to evaluate the relationship between elevated plasma homocysteine levels and early echocardiographic abnormalities in patients with newly diagnosed essential hypertension.
- Conditions
- Hypertension (HTN), Hyperhomocysteinemia, Diastolic Dysfunction
- Trial name
- HHT-EDD (NCT07480265)
- Testing
- Homocysteine Measurement and Echocardiography
- Where
- Turkey (Türkiye)
- Volunteers
- 500 people
- Sponsor
- Necmettin Erbakan University
Cardiac Amyloidosis
[64Cu]FBP8 PET for Early Detection of Intracardiac Thrombus in Amyloid Cardiomyopathy
The primary goal of this pilot study is to determine whether [64Cu]FBP8, a novel fibrin-binding positron emission tomography (PET) probe, can identify intracardiac thrombi when paired with simultaneous hybrid cardiac PET/MRI in…
- Trial name
- NCT07560306
- Testing
- [64Cu]FBP8 PET/MR
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Brigham and Women's Hospital
Lactose Intolerance
Lactobreath: A Study to Diagnose Lactose Intolerance Using Breath Markers
Food intolerances affect many people and can cause discomfort and dietary challenges. One common cause is difficulty digesting certain carbohydrates called FODMAPs.
- Trial name
- Lactobreath (NCT06177938)
- Testing
- Lactose solution/Glucose solution
- Where
- Switzerland
- Volunteers
- 112 people, healthy volunteers welcome
- Sponsor
- ETH Zurich
Acid Sphingomyelinase Deficiency (ASMD)
Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD)
Acid sphingomyelinase Deficiency known as Neiman _PICK disease is a group of rare genetic diseases. This study includes analysis of clinical manifestations in patients with ASMD and investigations done for diagnosis of these…
- Trial name
- NCT07274826
- Where
- Egypt
- Volunteers
- 7 people
- Sponsor
- Sohag University
Arterial Calcification Due to Deficiency of CD73
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
Researchers intend on diagnosing and treating certain inborn errors of metabolism. By doing this researchers hope to expand their knowledge about these disorders and provide access to patients of interest for research, teaching…
- Trial name
- NCT00369421
- Where
- United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Primary Open Angle Glaucoma, Myopia
Diagnostic Innovations in Glaucoma Study
The overarching goal of our research study is to evaluate changes in visual function and optic nerve topography (the structure of the back of the eye) in patients with glaucoma (increased susceptibility to pressure inside the eye…
- Trial name
- DIGS (NCT00221897)
- Where
- United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- University of California, San Diego
Transthyretin (TTR) Amyloid Cardiomyopathy
Safety and Efficacy of Tafamidis in Patients With Transthyretin Cardiomyopathy
This Phase 3 study will investigate the efficacy, safety and tolerability of an oral daily dose of 20 mg or 80 mg tafamidis meglumine capsules compared to placebo in subjects with either transthyretin genetic variants or…
- Trial name
- ATTR-ACT (NCT01994889)
- Testing
- Tafamidis
- Where
- 80 sites in United States, Belgium and 11 more
- Volunteers
- 441 people
- Sponsor
- Pfizer
Rare Diseases, Albinism
Implementation of Long-read Sequencing for the Diagnosis of Rare Diseases.
Following on from the third national plan for rare diseases (PNMR3), the main objectives of the PNMR4 are to reduce diagnostic uncertainty and dead ends and to strengthen translational research to promote diagnosis and the…
- Conditions
- Rare Diseases, Albinism, Intellectual Disability
- Trial name
- LongEpi (NCT07400913)
- Testing
- Long-read sequencing
- Where
- France
- Volunteers
- 150 people
- Sponsor
- University Hospital, Bordeaux