Clinical trials: Diagnostic Error
Fabry Disease
Anderson Fabry Disease - the Power of Information.
The goal of this before-after control-impact study is to determine whether providing targeted information on Fabry disease (FD) to cardiologists and tutoring them in the evaluation of patients with unexplained left ventricle…
- Trial name
- NCT07136662
- Testing
- educational
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
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
Lactose Intolerance
Lactobreath: A Study to Diagnose Lactose Intolerance Using Breath Markers
Food intolerances affect many people and can cause discomfort and dietary challenges. One common cause is difficulty digesting certain carbohydrates called FODMAPs.
- Trial name
- Lactobreath (NCT06177938)
- Testing
- Lactose solution/Glucose solution
- Where
- Switzerland
- Volunteers
- 112 people, healthy volunteers welcome
- Sponsor
- ETH Zurich
Adrenal Insufficiency, Cirrhosis
Is Adrenal Insufficiency Under-diagnosed in Hospitalized Cirrhosis Patients?
The hepatoadrenal syndrome has been well described in the literature and is known to be associated with poorer outcomes in both stable and critically ill cirrhotic patients.
- Conditions
- Adrenal Insufficiency, Cirrhosis, Spur Cell Anemia, Lecithin Acyltransferase Deficiency
- Trial name
- NCT03368066
- Testing
- Cosyntropin
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- University of Virginia
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
Familial Hypercholesterolemia
IN-TANDEM Familial Hypercholesterolemia Pilot Study
The purpose of this study is to validate the use of the FH Foundation FIND FH® Algorithm as a clinical decision support tool. FIND FH (Flag/Identify/Network/Engage) is a national initiative that utilizes machine learning and data…
- Trial name
- NCT03253432
- Testing
- Genetic testing
- Where
- 2 sites in United States
- Volunteers
- 378 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
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
Cardiac Amyloidosis
REVEAL - Research With I-124 EVuzamitide to Elucidate Cardiac AmyLoidosis
The purpose of this multicenter, open-label, single-arm, single-dose study is to assess the sensitivity and specificity of I-124 evuzamitide for the diagnosis of cardiac amyloidosis compared to current clinical standards for…
- Trial name
- REVEAL (NCT06788535)
- Testing
- I-124 evuzamitide
- Where
- 20 sites in United States
- Volunteers
- 204 people
- Sponsor
- Sharmila Dorbala
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
Diagnostic Error
Quality of Medical History Taking and Diagnostic Accuracy
This prospective randomized simulator-based single-blind trial aimed to investigate the effects of initial cues and history taking skills on diagnostic accuracy
- Trial name
- NCT05760859
- Testing
- Initial cue
- Where
- Switzerland
- Volunteers
- 198 people, healthy volunteers welcome
- Sponsor
- University Hospital, Basel, Switzerland
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
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
Hunter Syndrome
An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients
The objective of this study is to evaluate the effect of anti-idursulfase antibodies on idursulfase safety (measured by infusion related adverse events) between patients who develop anti-idursulfase antibodies and patients who do…
- Trial name
- NCT00882921
- Testing
- Idursulfase
- Where
- 6 sites in United States, Brazil and 1 more
- Volunteers
- 26 people
- Sponsor
- Shire
Peroxisomal Disorders, Diagnoses Disease
Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases
The principal aim of the study is to avoid the diagnostic wanderings of patients suffering from a peroxisomal disorder. For this purpose, a new diagnostic strategy is proposed.
- Trial name
- PEROXY4G (NCT03163771)
- Where
- 4 sites in France
- Volunteers
- 8 people
- Sponsor
- University Hospital, Lille
Autopsy, Autopsy in Intensive Care Unit
Comparative Study of Clinical Diagnoses and Autopsy Findings in Intensive Care
The objective of this observational study is to compare clinical diagnoses with autopsy and anatomopathological reports of patients who died in the intensive care units of the Nancy University Hospital and the Metz-Thionville…
- Trial name
- ECLAIR (NCT07769801)
- Testing
- Autopsy
- Where
- France
- Volunteers
- 32 people
- Sponsor
- Central Hospital, Nancy, France
Familial Hypercholesterolemia, Hypercholesterolemia
Evaluation of a Digiphysical Screening Method to Identify and Diagnose Familial Hypercholesterolemia
Longitudinal and observational registry-based cohort study of individuals participating in the national digiphysical screening program for Familial Hypercholesterolemia.
- Trial name
- DigiLipids (NCT04929457)
- Where
- Sweden
- Volunteers
- 30,000 people
- Sponsor
- Karolinska Institutet
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
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
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
Emergencies, Diagnoses Disease
Digitalized Differential Diagnosis Broadening in Emergency Rooms
10 to 35% of patients admitted to an emergency department receive an incorrect diagnosis. Not surprisingly, given the wide variety of health conditions encountered in emergency medicine, physicians often do not consider…
- Trial name
- DDX-BRO (NCT05346523)
- Testing
- Isabel Pro - The DDx generator (CDDS)
- Where
- 4 sites in Switzerland
- Volunteers
- 1,218 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern