Clinical trials: Diagnostic Errors
Gaucher's Disease
Study to Evaluate Efficacy and Safety of Imiglucerase Treatment in Chinese Patients With Gaucher Disease Type Ⅲ
Primary Objective To evaluate the efficacy on hematologic manifestations of imiglucerase treatment in Chinese patients who are diagnosed as Gaucher disease type Ⅲ To evaluate the safety profile of imiglucerase in maximum dose in…
- Trial name
- SEED (NCT04656600)
- Testing
- Cerezyme® / Imiglucerase
- Where
- 5 sites in China
- Volunteers
- 12 people
- Sponsor
- Sanofi
Gaucher Disease, Type 1
Treatment Protocol of Velaglucerase Alfa for Patients With Type 1 Gaucher Disease
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00954460
- Testing
- velaglucerase alfa
- Where
- 32 sites in United States
- Sponsor
- Shire
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
Cytomegalovirus Retinitis, HIV Infections
A Randomized Controlled Study of the Efficacy and Safety of Maintenance Treatment With Oral Ganciclovir for Newly Diagnosed Cytomegalovirus Retinitis in People With AIDS
To compare the time to progression of CMV retinitis between oral ganciclovir and IV ganciclovir during 20 weeks of maintenance treatment.
- Trial name
- NCT00002257
- Testing
- Ganciclovir
- Where
- 13 sites in United States, Canada
- Volunteers
- 150 people
- Sponsor
- Hoffmann-La Roche
Refractive Errors, Accomodation
Study in Pediatric Volunteers of a Handheld Device Versus a Standard Diagnostic Device in Ophthalmic Refraction
This study is exploratory and examines whether the refraction results obtained from a novel optical device yields results similar to the ophthalmic refraction measurements obtained from an autorefractor in children.
- Conditions
- Refractive Errors, Accomodation, Diagnostic Self Evaluation
- Trial name
- NCT04955379
- Testing
- EQ103
- Where
- Israel
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- EyeQue Corp.
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
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
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
Lactose Intolerance
Evaluation of GIMate Handheld Hydrogen Breath Monitor for Diagnosis of Lactose Malabsorption
The goal of this study is to assess the performance of the Vivante Health GIMate Breathalyzer device in diagnosing lactose malabsorption.
- Trial name
- NCT04754724
- Testing
- GIMate, H2 Check
- Where
- United States
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Vivante Health
Transthyretin (TTR) Amyloid Cardiomyopathy
Long-term Safety of Tafamidis in Subjects With Transthyretin Cardiomyopathy
Open label study to evaluate tafamidis for the treatment of transthyretin cardiomyopathy
- Trial name
- NCT02791230
- Testing
- Tafamidis
- Where
- 80 sites in United States, Argentina and 15 more
- Volunteers
- 1,733 people
- Sponsor
- Pfizer
Lysosomal Acid Lipase Deficiency
Lysosomal Acid Lipase Deficiency in Risk Groups
A multicenter real-world observational study of the prevalence, diagnostic pathways, and clinical characteristics of lysosomal acid lipase deficiency in pediatric and adolescent risk groups in the Russian Federation (HELIOS)
- Trial name
- HELIOS (NCT07455864)
- Where
- 2 sites in Russia
- Volunteers
- 25 people
- Sponsor
- AstraZeneca
Urea Cycle Disorders
Study in Healthy Subjects, Patients With Urea Cycle Disorders (UCD) and Carriers of UCD Mutations to Evaluate Urea Cycle Function
This diagnostic study will be performed to investigate the performance of the urea cycle in healthy subjects, asymptomatic carriers of Urea Cycle Disorders (UCD) mutations and subjects with genetically proven urea cycle…
- Trial name
- NCT01549015
- Testing
- oral administration of Sodium [1,2-13C]-Acetate
- Where
- 4 sites in Germany
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Cytonet GmbH & Co. KG
Lactose Intolerance
Evaluation of LacTEST for the Diagnosis of Hypolactasia in Adults and Elderly Patients Presenting With Clinical Symptoms of Lactose Intolerance
The purpose of this study is to evaluate both the impact of LacTEST on diagnostic thinking and on patient management, and its reproducibility (Test-Retest), for the diagnosis of hypolactasia in adults and elderly patients…
- Trial name
- NCT02636413
- Testing
- gaxilose, lactose
- Where
- 6 sites in Spain
- Volunteers
- 1 people
- Sponsor
- VenterPharma
Tyrosinosis, Hepatorenal Tyrosinemia
Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 (BioTyrosin)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Tyrosinemia type 1 from blood (plasma)
- Conditions
- Tyrosinosis, Hepatorenal Tyrosinemia, Fumarylacetoacetase Deficiency, Fah Deficiency
- Trial name
- BioTyrosin (NCT03284658)
- Where
- 3 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Wilson Disease
Efficacy and Safety Study of WTX101 (ALXN1840) in Adult Wilson Disease Patients
The main purpose of the study was to evaluate the efficacy of ALXN1840 (formerly WTX101) for 24 weeks on non-ceruloplasmin-bound copper (NCC) concentrations adjusted for molybdenum plasma concentration in participants newly…
- Trial name
- NCT02273596
- Testing
- ALXN1840
- Where
- 9 sites in United States, Austria and 3 more
- Volunteers
- 29 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Refractive Errors, Astigmatism
Study of a Hand-held Device Plus Mobile App Versus Standard Eye Care Devices in Measuring Refractive Error of the Eye
Single-center, open-label, prospective study in healthy volunteers desiring refraction for correction of visual acuity to compare a handheld device supported by a mobile application with the phoropter and autorefractor.
- Trial name
- NCT03929588
- Testing
- Hand-held device supported by a mobile application, Phoropter, Autorefractor
- Where
- United States
- Volunteers
- 230 people, healthy volunteers welcome
- Sponsor
- EyeQue Corp.
Hunter Syndrome, Mucopolysaccharidosis II (MPS II)
Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase
Study TKT024EXT was a long-term, single-arm, open-label extension of Study TKT024, a one year Phase 2/Phase 3 registration study.
- Trial name
- NCT00630747
- Testing
- Idursulfase
- Where
- 52 sites in United States, Brazil and 8 more
- Volunteers
- 94 people
- Sponsor
- Shire
Refractive Errors, Vision Disorders
Handheld Device Compared With a Standard Eye Care Diagnostic Device in Measuring Ophthalmic Refraction
This study is exploratory and examines whether the best-corrected visual acuities (BCVA's) from trial frames created with the refraction results obtained from a novel handheld optical device yields results similar to the…
- Trial name
- NCT04693247
- Testing
- EQ103
- Where
- United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- EyeQue Corp.
Fabry Disease
Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease
Primary Objective: To assess the safety, pharmacokinetics (PK), pharmacodynamics (PD), and exploratory efficacy of GZ/SAR402671 in enzyme replacement therapy treatment-naïve adult male participants diagnosed with Fabry disease.
- Trial name
- NCT02228460
- Testing
- GZ/SAR402671
- Where
- 8 sites in United States, France and 3 more
- Volunteers
- 11 people
- Sponsor
- Genzyme, a Sanofi Company
Cerebrotendinous Xanthomatosis (CTX)
Cerebrotendinous Xanthomatosis (CTX) Prevalence Study
Iiopathic bilateral cataracts occur in many children with Cerebrotendinous Xanthomatosis (CTX) so the opportunity to use contact with health care providers in connection with pediatric cataract evaluation and treatment is a…
- Trial name
- NCT02638220
- Where
- 44 sites in United States
- Volunteers
- 442 people
- Sponsor
- Travere Therapeutics, Inc.