Clinical trials: Diagnostic Errors
Cardiac Amyloidosis, Cardiac Disease
High Resolution Three-dimensional Maps of the Right Chambers in Patient Diagnosed With Cardiac Amyloidosis
Amyloid heart disease is an accumulation of fibrillar proteins in the extracellular sector of the heart. Identified on echocardiography as Ventricular hypertrophy.
- Trial name
- CARTO-AMYLO (NCT04956965)
- Testing
- Cardiac electro-mapping
- Where
- Martinique
- Volunteers
- 24 people
- Sponsor
- University Hospital Center of Martinique
Gaucher Disease, Acid SphingoMyelinase Deficiency
PREDIGA 2: Spanish Acronym of "Educational and Diagnostic Project for Gaucher and ASMD"
The study of splenomegaly, and the follow-up of splenectomized patients, is one of the causes of referral of these patients to pediatric gastroenterology and oncohematology clinics, and adult internal medicine and hematology.
- Conditions
- Gaucher Disease, Acid SphingoMyelinase Deficiency, ASMD, Niemann-Pick Diseases
- Trial name
- PREDIGA-2 (NCT05641103)
- Testing
- Patient with splenomegaly or splenectomy
- Where
- 14 sites in Spain
- Volunteers
- 122 people
- Sponsor
- Fundación Española de Hematología y Hemoterapía
Osteogenesis Imperfecta, Rare Bone Disorders
Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis
MOSAIC aims to determine whether oro-dental morphological anomalies, particularly palatal morphology, associated with rare bone and cartilage diseases can be precisely characterized using 3D digital models analysed through…
- Conditions
- Osteogenesis Imperfecta, Rare Bone Disorders, Hypophosphatemia, X-Linked
- Trial name
- MOSAIC (NCT07666269)
- Testing
- intra-oral 3D optical impression
- Where
- France
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux
Fabry Disease
Novel Diagnostic and Prognostic Predictors in Fabry Cardiomyopathy: Proof of Concept in a Rare Disease
In this work, we address the understanding of the signaling pathways involved in cardiac remodeling in human SCD through molecular imaging analysis with a fibrosis marker.
- Trial name
- FABRyCar (NCT07351136)
- Testing
- PET scan of 68Ga-FAPI
- Volunteers
- 20 people
- Sponsor
- Núcleo de Apoio à Investigação Clínica - FMUP
Xlsma, DMD
Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children
The incidence of rare diseases is extremely low, the disease is numerous, the symptoms are serious, and the detection technology is complicated. Countries have different definitions of rare diseases.
- Conditions
- Xlsma, DMD, X-ALD, TSC
- Trial name
- NCT03649919
- Where
- China
- Sponsor
- Children's Hospital of Fudan University
Synovial Diseases, Pigmented Villonodular Synovitis
Clinical Study of Magnetic Resonance Imaging and Deep Learning of Joint Synovial Disease
Through the high-throughput feature extraction of magnetic resonance images, the deep learning prediction model of joint synovial lesions is constructed used for the diagnosis, differential diagnosis and curative effect…
- Conditions
- Synovial Diseases, Pigmented Villonodular Synovitis, Gout, Rheumatoid Arthritis
- Trial name
- NCT04952896
- Testing
- Synovitis diagnosis
- Where
- China
- Volunteers
- 350 people
- Sponsor
- Peking University Third Hospital
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 in Transthyretin (TTR), Amyloidosis, Familial
To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE)
The AG10-504 study is an open-label extension study of acoramidis in participants with newly diagnosed transthyretin amyloid cardiomyopathy (ATTR-CM) or both ATTR-CM and transthyretin amyloid polyneuropathy (ATTR-PN).
- Conditions
- Amyloidosis in Transthyretin (TTR), Amyloidosis, Familial, Amyloid Cardiomyopathy, Amyloid Cardiomyopathy, Transthyretin-Related
- Trial name
- NCT07116473
- Testing
- Acoramidis (AG10)
- Volunteers
- 250 people
- Sponsor
- Eidos Therapeutics, a BridgeBio company
Familial Hypercholesterolemia, Cholesterol, Elevated
Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH)
The overall goal of this study is to promote awareness of Familial Hypercholesterolemia (FH). The investigators aim to enroll patients with suspected FH into the study and will randomize them to receive usual care or motivational…
- Conditions
- Familial Hypercholesterolemia, Cholesterol, Elevated, Genetic Disease
- Trial name
- ID-FH (NCT05238519)
- Testing
- Motivational interview (MI)
- Where
- 2 sites in United States
- Volunteers
- 257 people, healthy volunteers welcome
- Sponsor
- Essentia Health
Myopia
Validation of the Utility of Myopia Intelligent Diagnostic System
The screening of myopia via artificial intelligence represents an challenge in computational medicine. Here, the investigators use "deep learning" to create an automatic diagnostic system for myopia screening using ocular…
- Trial name
- NCT04014725
- Testing
- Myopia Intelligent Diagnostic System
- Volunteers
- 50 people
- Sponsor
- Sun Yat-sen University
Delirium, Confusion
Improving Safety of Diagnosis and Therapy in the Inpatient Setting
To improve the safety of diagnosis and therapy for a set of conditions and undifferentiated symptoms for hospitalized patients, the investigators will employ a set of methods and tools from the disciplines of systems engineering…
- Conditions
- Delirium, Confusion, Mental Status Change, Back Pain
- Trial name
- PSLL2-0 (NCT04393909)
- Testing
- Diagnostic Uncertainty Educational Curriculum, Diagnostic Timeout, Patient Diagnostic (Dx) Questionnaire
- Where
- United States
- Volunteers
- 700 people
- Sponsor
- Brigham and Women's Hospital
Heart Failure NYHA Class II, Heart Failure NYHA Class III
CMR T1 Mapping for Diagnosis of Cardiac Amyloidosis
The study aims to test the diagnostic accuracy of T1 mapping for the diagnosis of cardiac amyloidosis prospectively. The hypothesis is that T1 mapping in older patients with symptomatic heart failure, increased LV wall thickness…
- Conditions
- Heart Failure NYHA Class II, Heart Failure NYHA Class III, Heart Failure NYHA Class IV, Heart Failure With Preserved Ejection Fraction
- Trial name
- CMR for CA (NCT04862273)
- Testing
- Native T1 CMR, Web-based ATTR probability estimator (Pfizer, New York), 99mTc-DPD scintigraphy
- Where
- Germany
- Volunteers
- 112 people
- Sponsor
- University of Leipzig
Fabry Disease
Screening of Fabry Disease in Patients With GI Symptoms
Fabry disease screening study in patients diagnosed with gastrointestinal tract (GIT) disease, i.e. with the diagnosis of non-infectious inflammatory bowel disease, functional dyspepsia or irritable bowel syndrome in particular…
- Trial name
- GiFD (NCT04184986)
- Testing
- dry blood test
- Where
- Czechia
- Volunteers
- 200 people
- Sponsor
- General University Hospital, Prague
Skeletal Dysplasia, Reverse Overjet
Assessment of Artificial Intelligence for Treatment Decision Recommendation of Adult Skeletal Class III Patients
The study titled "Reliability Of Artificial Intelligence for Treatment Decision Recommendation of Adult Skeletal Class III Patients" aims to assess the accuracy and dependability of artificial intelligence (AI) in providing…
- Trial name
- NCT06002373
- Where
- Egypt
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Cairo University
Rheumatoid Arthritis (RA), Gouty Arthritis (GA)
Musculoskeletal Ultrasound for Differentiating Rheumatoid and Gouty Arthritis
Rheumatoid arthritis (RA) and gouty arthritis (GA) are two common forms of joint inflammation that can present with very similar physical symptoms, making them difficult to tell apart early in the disease process.
- Conditions
- Rheumatoid Arthritis (RA), Gouty Arthritis (GA), Gout, Inflammatory Arthritis
- Trial name
- NCT07657156
- Volunteers
- 100 people
- Sponsor
- Assiut University
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
Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI
Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
BACKGROUND/OBJECTIVE: Quantitative urine screening for mucopolysaccharides (MPS) has been the primary method for detecting mucopolysaccharidoses in children.
- Trial name
- NCT01707433
- Testing
- Enzyme testing
- Where
- 2 sites in United States
- Volunteers
- 22 people
- Sponsor
- Children's Hospitals and Clinics of Minnesota
Mucopolysaccharidoses
A Cross-specialty Collaboration Platform for Mucopolysaccharidosis Confirmative Diagnosis
In this study the investigators is aimed to establish the MPS screening algorithm for high risk patients who had medical history of previous surgical repair or presence of inguinal and/or umbilical hernia with combination of any…
- Trial name
- NCT03017677
- Volunteers
- 100 people
- Sponsor
- Mackay Memorial Hospital
Refractive Errors, Astigmatism
Study of a Hand-held Device Plus Mobile App Versus Standard Eye Care Devices in Measuring Refractive Error of the Eye
Single-center, open-label, prospective study in healthy volunteers desiring refraction for correction of visual acuity to compare a handheld device supported by a mobile application with the phoropter and autorefractor.
- Trial name
- NCT03929588
- Testing
- Hand-held device supported by a mobile application, Phoropter, Autorefractor
- Where
- United States
- Volunteers
- 230 people, healthy volunteers welcome
- Sponsor
- EyeQue Corp.
Fabry Disease
Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry Disease
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme α-Gal A resulting from mutations affecting the GLA gene.
- Trial name
- NCT05698901
- Testing
- Agalsidase beta
- Where
- Taiwan
- Volunteers
- 150 people
- Sponsor
- Mackay Memorial Hospital