Clinical trials: Diagnostic Errors, open to volunteers
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
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
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
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
Gout Arthritis, Gout Attack
Efficacy Anda Safety of Etoricoxib With Betamethasone for the Treatment of Acute Gout Arthritis
Phase III longitudinal, multicenter, randomized, double-blind clinical trial. The aim of this study is to evaluate the efficacy and safety of the Fixed-Dose Combination of Etoricoxib/Betamethasone Versus Etoricoxib in Patients…
- Trial name
- NCT06863701
- Testing
- Etoricoxib + Betamethasone fixed dose, Etoricoxib fixed dose
- Where
- Mexico
- Volunteers
- 72 people
- Sponsor
- Laboratorios Silanes S.A. de C.V.
Batten Disease, CLN2
Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease
The investigators propose a study to assess cognitive and developmental outcomes of patients with CLN2 that are untreated and receiving cerliponase alfa.
- Conditions
- Batten Disease, CLN2, Neuronal Ceroid-Lipofuscinoses
- Trial name
- NCT03862274
- Testing
- CLN2 Treatment
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Jessica Scherr
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
Ophthalmic Diseases (Specific Types Not Restricted), Cataract
Research on a New Intelligent Mobile Screening and Diagnosis Pattern for Ocular Diseases
The global distribution of primary ophthalmic medical resources is uneven, and the traditional eye disease screening model has problems such as low efficiency, high cost and limited coverage.
- Conditions
- Ophthalmic Diseases (Specific Types Not Restricted), Cataract, Refraction Error, Diabetic Retinopathy (DR)
- Trial name
- NCT07003165
- Volunteers
- 15,000 people, healthy volunteers welcome
- Sponsor
- Zhongshan Ophthalmic Center, Sun Yat-sen University
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)
Metabolic Disease, Mitochondrial Diseases
Genetic Diagnosis in Inborn Errors of Metabolism
Inborn Errors of metabolism comprise a large number of rare conditions with a collective incidence of around 1/2000 newborns. Many disorders are treatable provided that a correct diagnosis can be established in time, and for many…
- Conditions
- Metabolic Disease, Mitochondrial Diseases, Epilepsy in Children, Epilepsy
- Trial name
- NCT06376279
- Testing
- IEM-EP
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Region Stockholm
Phenylketonuria (PKU)
A Self-test Home-use Blood Phenylalanine Monitoring System Under the Brand Name Egoo Phe System Has Been Developed for Measurement of Phenylalanine (Phe) in Individuals Diagnosed With Phenylketonuria (PKU): The Study Purpose is to Evaluate Accuracy and Usability
A home-use self-test blood phenylalanine monitoring system under the brand name Egoo Phe System from manufacturer Egoo Health Aps has been developed for measurement of phenylalanine (Phe) in individuals diagnosed with…
- Trial name
- NCT06940193
- Where
- United Kingdom
- Volunteers
- 20 people
- Sponsor
- Egoo Health Aps
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
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
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Hypophosphatasia
Characteristics of Hypophosphatasia in Adult Patients in Rheumatology and Their Value in Developing an Algorithm to HPP-diagnosis - the COHIR Multi-center Study
Non-interventional, prospective, multi-center investigation with exploratory data analysis to assess the proportion of patients with hypophosphatasia presenting at departments of rheumatology and to establish an algorithm to HPP…
- Trial name
- COHIRnational (NCT06574282)
- Testing
- Second alkaline phosphatase measurement
- Where
- Germany
- Volunteers
- 720 people
- Sponsor
- University of Bonn
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
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
Refractive Errors
Clinical Validation Study Protocol for SmartEyes Smart Optometry Measurement Device (Medical Device Clinical Validation Study)
This study aims to evaluate the SmartEyes smart refraction measurement device in two phases under real outpatient optometry room visits at Wuhan Children's Hospital.
- Trial name
- CVSP-SOMD (NCT07803094)
- Testing
- SmartEyes smart refraction measuring device, Topcon KR800, Subjective refraction
- Volunteers
- 200 people
- Sponsor
- The Hong Kong Polytechnic University