Clinical trials: Diagnostic Error
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
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
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
Myopathy, Neuropathy
Identification of Tongue Involvement in Late-Onset Pompe Disease
This purpose of this study is to determine if tongue strength and tongue ultrasound measurements differentiates patients with untreated late-onset Pompe Disease (LOPD) from patients with acquires/hereditary myopathies or…
- Conditions
- Myopathy, Neuropathy, Glycogen Storage Disease Type II (Late-onset Pompe Disease)
- Trial name
- NCT02765828
- Testing
- Observational study
- Where
- United States
- Volunteers
- 73 people
- Sponsor
- Duke University
Hunter Syndrome
A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®
Elaprase (idursulfase), a large molecular protein, is not expected to cross the blood brain barrier at therapeutic levels when administered intravenously.
- Trial name
- NCT00920647
- Testing
- Control, Idursulfase IT (1 mg), Idursulfase IT (10 mg)
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 16 people
- Sponsor
- Shire
Hunter Syndrome
Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment
Study HGT-HIT-094 is a multicenter study designed to determine the effect on clinical parameters of neurodevelopmental status of monthly IT administration of idursulfase-IT 10 mg for 12 months in pediatric patients with Hunter…
- Trial name
- AIM-IT (NCT02055118)
- Testing
- idursulfase-IT, No IT treatment
- Where
- 9 sites in United States, Australia and 5 more
- Volunteers
- 58 people
- Sponsor
- Shire
Compensation Incentives, Clinical Documentation
Clinical Documentation Physician Compensation Incentives
Clinical documentation which omits significant medical details negatively affects communication among physicians and impedes the diagnostic process. Clinical documentation may be improved by using compensation incentives.
- Conditions
- Compensation Incentives, Clinical Documentation, Physician Work Environment, Diagnostic Error
- Trial name
- NCT05527977
- Testing
- Compensation Incentives to improve Clinical Documentation
- Where
- United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Rush University Medical Center
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
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
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
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
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
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
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
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