Clinical trials: Metabolism, Inborn Errors
Gout
Assessing the Role of the NLRP3 Inflammasome in Intercritical Gout
Gout is an autoinflammatory disease characterized by flares of painful joint inflammation. This inflammation occurs in response to uric acid that crystallizes.
- Trial name
- NCT04125459
- Testing
- Joint Biopsy
- Where
- United States
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Attune Health Research, Inc.
Fabry Disease
Fabry Disease Registry & Pregnancy Sub-registry
The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease, irrespective of treatment status.
- Trial name
- NCT00196742
- Where
- 284 sites in United States, Argentina and 42 more
- Volunteers
- 9,000 people
- Sponsor
- Genzyme, a Sanofi Company
Gout
To Evaluate the Influence of (LUA Probiotics) on Uric Acid
This study aims to investigate the efficacy of the lactic acid bacteria "LUA probiotics" in reducing serum uric acid levels. The use of health supplements prior to the onset of gout symptoms is proposed as a preventive strategy…
- Trial name
- NCT06969469
- Where
- Taiwan
- Volunteers
- 20 people
- Sponsor
- Grape King Bio Ltd.
Cardiac Amyloidosis
PET/MRI Evaluation of Cardiac Amyloid
Cardiac amyloidosis is a disorder characterized by the deposition of abnormal proteins called amyloid in the heart tissue. This makes it difficult for the heart to function properly.
- Trial name
- NCT03119558
- Testing
- 18F-Florbetaben (Neuraceq®) PET/MRI
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Stanford University
Organic Acidemia, Methylmalonic Acidemia
Clinical and Laboratory Study of Methylmalonic Acidemia
Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations.
- Conditions
- Organic Acidemia, Methylmalonic Acidemia, Inborn Errors of Metabolism
- Trial name
- NCT00078078
- Where
- 3 sites in United States
- Volunteers
- 2,275 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Liver Post-transplant Patients
Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients
Lysosomal Acid Lipase (LAL) deficiency is a rare, autosomal recessive storage disease linked to decrease enzymatic activity of LAL, responsible for intracellular accumulation of cholesterol esters and triglycerides.
- Trial name
- LALTH-2 (NCT02851550)
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Hospices Civils de Lyon
Compensated Cirrhosis
Screening of Hepatocellular Carcinoma in Patients With Compensated Cirrhosis
Liver carcinoma is becoming the main complication of cirrhosis. Treatment of symptomatic or large tumors is disappointing. Regular ultrasonographic screening of small (curable) tumors is currently recommended, but the best…
- Trial name
- NCT00190385
- Testing
- Ultrasonographic screening
- Where
- France
- Volunteers
- 1,200 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cognitive Decline, Mucopolysaccharidosis I
A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I
This is a 24-month study of the use of laronidase administered into the spinal fluid to treat cognitive decline in mucopolysaccharidosis I (MPS I).
- Conditions
- Cognitive Decline, Mucopolysaccharidosis I, Hurler-Scheie Syndrome, Scheie Syndrome
- Trial name
- NCT00852358
- Testing
- laronidase
- Where
- 3 sites in United States
- Volunteers
- 9 people
- Sponsor
- Patricia I. Dickson, M.D.
Wilson's Disease
Phase I/II Clinical Study to Evaluate the Safety, Tolerability and Efficacy of LY-M003 Injection in Adult Patients With Wilson's Disease
This is a multicenter, open-label, single-arm, single-dose Phase I/II clinical study. It aims to evaluate the safety, tolerability, efficacy, immunogenicity, pharmacodynamic (PD) and pharmacokinetic (PK) profiles of LY-M003…
- Trial name
- NCT07641140
- Testing
- LY-M003 Injection
- Where
- China
- Volunteers
- 18 people
- Sponsor
- Lingyi Biotech Co., Ltd.
Homozygous Familial Hypercholesterolemia
Evaluate the Long-term Efficacy and Safety of SHR-1918 in Patients With Homozygous Familial Hypercholesterolemia
A multicenter, single arm, open label phase II clinical study evaluating the long-term efficacy and safety of SHR-1918 in homozygous familial hypercholesterolemia patients
- Trial name
- NCT07133815
- Testing
- SHR-1918
- Where
- China
- Volunteers
- 55 people
- Sponsor
- Beijing Suncadia Pharmaceuticals Co., Ltd
Fabry Disease
A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease
This is an 18-month, multicenter, randomized, active-control, parallel-group Phase 3 study, in which participants will be randomized to venglustat versus standard of care therapy (agalsidase alfa, agalsidase beta, or migalastat)…
- Trial name
- CARAT (NCT05280548)
- Testing
- Venglustat (GZ402671), Agalsidase alfa, Agalsidase beta (GZ419828)
- Where
- 54 sites in United States, Austria and 17 more
- Volunteers
- 104 people
- Sponsor
- Sanofi
Malaria, Falciparum, G6PD Deficiency
Safety and Tolerability of Low Dose Primaquine
In Cambodia, falciparum is becoming more difficult to treat because drugs are becoming less effective. The investigators can help to try to prevent the spread of this resistant malaria by adding a drug that will make it more…
- Trial name
- NCT02434952
- Testing
- Dihydroartemisinin piperaquine (DHA PP), Primaquine
- Where
- Cambodia
- Volunteers
- 109 people
- Sponsor
- Malaria Consortium
Fabry Disease
Post Trial Access to Lucerastat for Patients With Fabry Disease Who Participated in Study ID-069A302
This is a Post Trial Access program for patients with Fabry Disease who previously participated in the ID-069A302 (MODIFY OLE) trial and who were still enrolled in the study at the time the Sponsor decided to discontinue…
- Trial name
- NCT07762638
- Testing
- Lucerastat
- Sponsor
- Idorsia Pharmaceuticals Ltd.
Acute Gout
Canakinumab in the Treatment of Acute Gout Flares and Prevention of New Flares in Patients Unable to Use Non-steroidal Anti-inflammatory Drugs (NSAIDs) and/or Colchicine Including a 12 Weeks Extension and an Open-label 48 Weeks Extension Study
The purpose of the 12-week core study was to demonstrate that canakinumab given upon acute gout flares relieves the signs and symptoms and prevents recurrence of gout flares in patients with frequent flares of gout for whom…
- Trial name
- β-RELIEVED (NCT01029652)
- Testing
- Canakinumab 150 mg, Triamcinolone acetonide 40 mg
- Where
- 47 sites in Australia, Belgium and 15 more
- Volunteers
- 230 people
- Sponsor
- Novartis Pharmaceuticals
Fabry Disease
Arrhythmia Burden, Risk of Sudden Cardiac Death and Stroke in Patients With Fabry Disease
Fabry disease (FD) is a genetic disorder that leads to progressive accumulation of fat or 'sphingolipid' within the tissues, including the heart muscle and conductive tissue.
- Trial name
- RaILRoAD (NCT03305250)
- Testing
- Implantable Loop Recorder
- Where
- 7 sites in Australia, United Kingdom
- Volunteers
- 169 people
- Sponsor
- University Hospital Birmingham NHS Foundation Trust
Fabry Disease
Extension Study of PRX-102 for up to 60 Months
To evaluate the ongoing safety, tolerability, and efficacy parameters of PRX-102 in adult Fabry patients who have successfully completed treatment with PRX-102 in studies PB-102-F01 and PB-102-F02.
- Trial name
- NCT01981720
- Testing
- PRX-102 (pegunigalsidase alfa)
- Where
- 8 sites in United States, Paraguay and 2 more
- Volunteers
- 15 people
- Sponsor
- Protalix
Phenylketonuria
Efficacy and Safety of SYNB1618 and SYNB1934 in Adult Patients With Phenylketonuria
This Phase 2 study in patients with phenylketonuria (PKU) will be an open-label, dual-arm study of either a SYNB1618 or SYNB1934 dose-ramp regimen.
- Trial name
- SynPheny-1 (NCT04534842)
- Testing
- SYNB1618, SYNB1934
- Where
- 11 sites in United States
- Volunteers
- 20 people
- Sponsor
- Synlogic
To Determine Bioequivalence Under Fed Conditions
Bioequivalence Study of Doxycycline Monohydrate Tablets Under Fed Conditions
The purpose of this study is to compare the single-dose bioequivalence of Par and Oclassen doxycycline monohydrate 100 mg.
- Trial name
- NCT01380496
- Testing
- doxycycline monohydrate
- Where
- Canada
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Par Pharmaceutical, Inc.
Wilson Disease
Oral Health and Wilson's Disease: SOMAWI
Patients with Wilson disease have poorer dental and periodontal health and a have lower oral quality of life than control patients.
- Trial name
- SOMAWI (NCT05444127)
- Testing
- Saliva samples, Questionnaire OHIP-14, Thorough dental examination
- Where
- 2 sites in France
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Maculopathy, Age-Related, Choroidal Neovascularization
Age-related Macular Degeneration: Detection of Onset of New Choroidal Neovascularization (AMD DOC Study)
The purpose of this study is to determine the sensitivity of the optical coherence tomography (OCT) test in detecting neovascular AMD in eyes at high risk for CNV development.
- Trial name
- NCT00417846
- Where
- 4 sites in United States
- Volunteers
- 98 people
- Sponsor
- Johns Hopkins University
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.