Clinical trials: Diagnostic Errors
Gaucher Disease, Type 1, Gaucher Disease, Type 3
Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3
Multicenter, doubleblinded, randomized placebo-controlled study of arimoclomol in patients with Gaucher Disease Type 1 or 3
- Trial name
- NCT03746587
- Testing
- Arimoclomol
- Where
- 8 sites in India
- Volunteers
- 39 people
- Sponsor
- ZevraDenmark
Refractive Error, Visual Impairment
The Baltimore Reading and Eye Disease Study
The Baltimore Reading and Eye Disease Study (BREDS) is a two year study to determine the prevalence of vision problems in an early school age population with reading difficulty.
- Conditions
- Refractive Error, Visual Impairment, Convergence Insufficiency, Reading Disabilities
- Trial name
- BREDS (NCT02607384)
- Testing
- Eyeglass wearing, Orthoptic exercises, Specialist referral
- Volunteers
- 328 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
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
Glaucoma, Myopia
Efficacy of Retinal Nerve Fiber Layer (RNFL) / Retinal Thickness Ratio by Cirrus OCT Utilizing Spectral -Domain Technology as a Diagnostic Predictor of Glaucoma
Glaucoma is presumed to be an axonal disease which starts at the lamina cribrosa. This assumption has led to the monitoring of the retinal nerve fiber layer thickness for the diagnosis and monitoring of progression of glaucoma.
- Trial name
- NCT00772993
- Where
- South Korea
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Yonsei University
Emergency Medicine, Diagnostic Errors
Diagnostic Accuracy of Two Large Language Models in Turkish Emergency Department Anamnesis Notes
This retrospective diagnostic accuracy study evaluates two large language models - GPT-4.1 (gpt-4.1-2025-04-14; OpenAI) and Claude Sonnet 4.6 (claude-sonnet-4-6; Anthropic) - as retrospective coding-quality instruments applied to…
- Conditions
- Emergency Medicine, Diagnostic Errors, Artificial Intelligence (AI) in Diagnosis
- Trial name
- LLM-ED-DX-TR (NCT07632859)
- Where
- Turkey (Türkiye)
- Volunteers
- 600 people
- Sponsor
- Marmara University Pendik Training and Research Hospital
Cardiac Amyloidosis, AL Amyloidosis
Efficacy of [18F]Florbetaben PET for Diagnosis of Cardiac AL Amyloidosis
This is an open-label, multi-center pivotal Phase 3 study to visually and quantitatively assess PET images obtained after single application of 300 MBq [18F]florbetaben and PET scanning of patients with suspected cardiac…
- Conditions
- Cardiac Amyloidosis, AL Amyloidosis, ATTR Amyloidosis
- Trial name
- CArdiag (NCT05184088)
- Testing
- [18F]florbetaben
- Where
- 14 sites in United States, Germany and 2 more
- Volunteers
- 244 people
- Sponsor
- Lantheus Germany GmbH
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
ATTR Amyloidosis, Cardiopathy
Orthopaedic Specimen Pathology and Early Diagnosis of ATTR Cardiopathy (ATTR-ORTHO)
The goal of this observational study is to learn about the frequency of ATTR amyloid, cardiac involvement and associated features, in 150 patients aged 50 or more years, and operated for an idiopathic carpal tunnel syndrome…
- Conditions
- ATTR Amyloidosis, Cardiopathy, Carpal Tunnel Syndrome, Lumbar Spine Stenosis
- Trial name
- ATTR-ORTHO (NCT06367842)
- Where
- France
- Volunteers
- 150 people
- Sponsor
- Institut Mutualiste Montsouris
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
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
Cardiac Amyloidosis, Heart Failure With Preserved Ejection Fraction
Cardiac Amyloidosis in HFpEF Tunisian Patients
Cardiac amyloidosis (CA) has recently been reported as a common cause of heart failure with preserved left ventricular ejection fraction (HFpEF), with a prevalence of 6% in elderly HFpEF patients.
- Conditions
- Cardiac Amyloidosis, Heart Failure With Preserved Ejection Fraction, Echocardiography, CMR
- Trial name
- Amy-Card (NCT06201832)
- Where
- Tunisia
- Volunteers
- 87 people
- Sponsor
- University Tunis El Manar
X-Linked Adrenoleukodystrophy, Adrenomyeloneuropathy
Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD)
The purpose of this study is to assess the safety, tolerance, pharmacokinetics, and pharmacodynamics of sobetirome, a selective thyroid hormone analog, in adult male X-ALD patients.
- Trial name
- NCT01787578
- Testing
- Sobetirome
- Where
- United States
- Sponsor
- Thomas S. Scanlan
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
Niemann-Pick Disease, Type C
Arimoclomol Prospective Study in Participants Diagnosed With Niemann-Pick Disease Type C
A prospective, randomized, double-blind, placebo controlled therapeutic study in participants with confirmed diagnosis of Niemann-Pick disease type C (NPC).
- Trial name
- NCT02612129
- Testing
- arimoclomol
- Where
- 14 sites in United States, Denmark and 7 more
- Volunteers
- 50 people
- Sponsor
- ZevraDenmark
Disabilities Multiple
End Diagnostic Overshadowing
The goal of this study is to address the critical issue of diagnostic overshadowing by applying the Collective Impact Model40 to co-produce our End Diagnostic Overshadowing program with academic, health systems, health…
- Trial name
- EDO (NCT06608758)
- Testing
- Electonic health record prompts with education, Standard of care
- Where
- United States
- Volunteers
- 120,000 people, healthy volunteers welcome
- Sponsor
- Rush University Medical Center
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
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
Mild Autonomous Cortisol Secretion (MACS), Autonomous Cortisol Secretion (ACS)
Metyrapone Study for Patients Diagnosed With Mild Autonomous Cortisol Secretion - MACS
single-center, randomized, double-blind, placebo-controlled Phase 2 study to evaluate safety and efficacy of overnight metyrapone in patients with MACS.
- Trial name
- NCT07138274
- Testing
- Metyrapone 250 mg Oral Tablets
- Where
- United States
- Volunteers
- 90 people
- Sponsor
- Mayo Clinic
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
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