Clinical trials: Diagnostic Error, active
Sickle Cell Disease, Thalassemia
RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
Rare Anaemia Disorders (RADs) is a group of rare diseases characterized for presenting anaemia as the main clinical manifestation.
- Conditions
- Sickle Cell Disease, Thalassemia, Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder, Anemia Due to Membrane Defect
- Trial name
- RADeep (NCT06213402)
- Testing
- Data collection from EHR.
- Where
- Spain
- Volunteers
- 32,564 people
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
Mucopolysaccharidoses, Progressive Pseudorheumatoid Dysplasia
Pediatric Arthropathy Beyond Inflammation: Clinical Spectrum and Diagnostic Approach at Assiut University Children Hospital
To identify the most common underlying causes of non-inflammatory arthropathy in children presenting to Assiut University Children Hospital for through clinical evaluation, laboratory testing, and imaging, in order to improve…
- Conditions
- Mucopolysaccharidoses, Progressive Pseudorheumatoid Dysplasia, Farber Disease, Osteogenesis Imperfecta
- Trial name
- NCT07173010
- Volunteers
- 35 people
- Sponsor
- Assiut University
Cardiovascular Diseases, Hypertrophic Cardiomyopathy (HCM)
AI-enabled Screening and Diagnosis of Cardiomyopathies Using Coronary CTA
The goal of this observational and diagnostic study is to develop and validate an artificial intelligence assisted approach for coronary computer tomography angiography-(CCTA)-based screening and diagnosis of cardiomyopathies in…
- Conditions
- Cardiovascular Diseases, Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Restrictive Cardiomyopathy
- Trial name
- Atlantis (NCT06748261)
- Testing
- CCTAI model
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Shanghai Zhongshan Hospital
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
Acute Coronary Syndromes, ST Elevation Myocardial Infarction
Smartphone AI Assistance for Prehospital ECG Interpretation
Prehospital providers interpret 12-lead electrocardiograms (ECGs) under time pressure and without immediate expert support. Missed acute coronary occlusion - occlusion myocardial infarction (OMI) - delays reperfusion, while false…
- Conditions
- Acute Coronary Syndromes, ST Elevation Myocardial Infarction, Non-ST Elevated Myocardial Infarction, Myocardial Infarction (MI)
- Trial name
- ECG-IA (NCT07810686)
- Testing
- Smartphone large language model assistance (GPT-4o, version-locked)
- Where
- Switzerland
- Volunteers
- 144 people, healthy volunteers welcome
- Sponsor
- École Supérieure de Soins Ambulanciers - College of Higher Education in Prehospital Care
Hypoparathyroidism, Pseudohypoparathyroidism
German Hypoparathyroidism Registry
Chronic hypoparathyroidism is a rare condition in which the parathyroid glands do not make enough parathyroid hormone (PTH). PTH helps control the levels of calcium and phosphate in the blood.
- Trial name
- HyPaReg (NCT07857460)
- Where
- Germany
- Volunteers
- 150 people
- Sponsor
- University Hospital Augsburg
Wilson Disease
Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease
The investigators aimed to identify factors associated with symptoms and features of Wilson disease from a large cohort during long-term follow-up
- Trial name
- NCT04965545
- Testing
- low copper diet
- Where
- China
- Volunteers
- 1,000 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Cataract, High Myopia
Artificial Intelligence for Highly Myopic Cataract
This study aims to establish a multi-center artificial intelligence model for the accurate calculation of intraocular lens and its clinical application in highly myopic cataract, so as to improve the accuracy of the prediction of…
- Conditions
- Cataract, High Myopia, Myopia, Automatic Judgement
- Trial name
- AI-HMC (NCT06616506)
- Testing
- newly-invented AI model
- Where
- China
- Volunteers
- 500,000 people
- Sponsor
- Shanghai High Myopia Study Group
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)
Amyloidosis Cardiac, Heart Failure
Screening, Characterization, and Longitudinal Follow-up of Patients With Cardiac Amyloidosis
Cardiac amyloidosis is a progressive disorder caused by extracellular deposition of amyloid fibrils in the heart, leading to heart failure and impaired cardiac function.
- Conditions
- Amyloidosis Cardiac, Heart Failure, Cardiac MRI, Spectroscopic Analysis
- Trial name
- NCT07577466
- Where
- Germany
- Volunteers
- 200 people
- Sponsor
- Heinrich-Heine University, Duesseldorf
Glycogen Storage Disease Type I, Glycogen Storage Disease Type IB
Effects of the Carbohydrate Counting Method on Blood Glucose Regulation, Quality of Life, Urinary Glc4 and Other Biomarkers in Children With GSD1
The goal of the study is to investigate the effects of carbohydrate counting training-administered to pediatric patients diagnosed with GSD 1a and 1b-on blood glucose regulation, quality of life, urinary glucotetrasaccharide…
- Conditions
- Glycogen Storage Disease Type I, Glycogen Storage Disease Type IB, Glycogen Storage Disease Type IA
- Trial name
- NCT07875023
- Where
- Turkey (Türkiye)
- Volunteers
- 8 people
- Sponsor
- Şükrü Arman AKSOY
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
PET/CT, Solid Tumors, Adult
Granzyme B-targeted PET Imaging Monitoring Tumor Responses to Immunotherapy
Malignant solid tumors, characterized by their persistently high incidence and mortality rates, pose a significant threat to human health and life, imposing a substantial societal burden.
- Conditions
- PET/CT, Solid Tumors, Adult, Solid Tumors, Advanced Solid Tumors
- Trial name
- GZMB_PET (NCT06916442)
- Testing
- PET/CT Imaging with GZMB-targeted tracer
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Zhongnan Hospital
Mucopolysaccharidosis I, Mucopolysaccharidosis II
Registry of Patients Diagnosed With Lysosomal Storage Diseases
This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI
- Trial name
- LSD Registry (NCT05619900)
- Testing
- There is no intervention
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- University of California, San Francisco
Metastatic Colorectal Cancer, Metastatic Gastroesophageal Adenocarcinoma
Safety of Trifluridine/Tipiracil in Patients With Dihydropyrimidine Dehydrogenase Deficiency Diagnosed With Metastatic Colorectal or Gastroesophageal Cancer
The goal of this clinical trial is to test the safety of the trifluridine/tipiracil as replacement of fluoropyrimidines based chemotherapy as first line metastatic colorectal or gastroesophageal cancer regimens in patients with…
- Conditions
- Metastatic Colorectal Cancer, Metastatic Gastroesophageal Adenocarcinoma, DPD Deficiency
- Trial name
- TRIFLUOX-DP (NCT06245356)
- Testing
- Lonsurf, Oxaliplatin, Panitumumab
- Where
- 21 sites in France
- Volunteers
- 73 people
- Sponsor
- UNICANCER
Cancers
Ovarian Tissue Cryopreservation in Pre-Pubertal (OTC-Pre Pubertal)
The purpose of this study is to safely remove ovarian tissue in pre-pubertal pediatric patients, who are at risk for infertility from their medical treatment, for freezing for future restoration of fertility and hormone function.
- Trial name
- NCT05299710
- Testing
- Laparoscopic surgery
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- Erin Rowell
Cardiac Amyloidosis
Validation of Different Diagnostic Modalities in the Detection of Cardiac Amyloidosis Among Patients With "Red Flags"
The study aims to test and compare the diagnostic yield of different diagnostic modalities (speckle tracking echocardiography, CMR, serum and urine protein analysis and bone tracer scintigraphy) in the detection of cardiac…
- Trial name
- NCT06175858
- Testing
- CMR
- Volunteers
- 30 people
- Sponsor
- Assiut University
Hemolysis, Diagnostic Errors
Pneumatic Tube System Versus Personnel Transport and the Hemolysis Index of Emergency Department Blood Samples: A Randomized, Split-Sample, Single-Blind Trial
Hemolysis is the most common pre-analytical error in emergency department (ED) laboratory specimens and can lead to false elevation of intracellular analytes (potassium, LDH, AST, hemoglobin), resulting in misdiagnosis and…
- Conditions
- Hemolysis, Diagnostic Errors, Blood Specimen Collection
- Trial name
- PTS-HEMO-ED (NCT07755007)
- Testing
- Pneumatic Tube System Transport, Manual Personnel Transport
- Where
- Turkey (Türkiye)
- Volunteers
- 166 people
- Sponsor
- Marmara University Pendik Training and Research Hospital
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
Wild-type ATTR Amyloidosis, Amyloidosis Cardiac
ATTR Amyloid Cardiomyopathy: Characterization of Extracellular Vesicles as Potential Disease Stratifiers and Prognostic Biomarkers
This study explores whether extracellular vesicles (EVs) tiny particles released into the bloodstream by cells can serve as early and minimally invasive biomarkers for transthyretin amyloid cardiomyopathy (ATTR-CM).
- Conditions
- Wild-type ATTR Amyloidosis, Amyloidosis Cardiac, Amyloidosis, Hereditary, Amyloidosis Transthyretin
- Trial name
- EV-ATTR (NCT07314268)
- Where
- Brazil
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo General Hospital