Clinical trials: Metabolism, Inborn Errors
Niemann-Pick Disease, Type C
Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine
Background: Niemann-Pick disease type C (NPC) is a genetic disorder that results in progressive loss of nervous system function by affecting the membranes of nerve cells. There is no known cure for NPC.
- Trial name
- NCT00975689
- Testing
- N-Acetyl Cysteine
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Niemann-Pick Disease, Type C
Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C
Niemann-Pick disease, type C (NPC) is a lethal, autosomal recessive, lysosomal storage disorder characterized by neurodegeneration in early childhood and death in adolescence.
- Trial name
- NCT03471143
- Testing
- VTS-270
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Washington University School of Medicine
Pompe Disease
Drug-drug Interaction Study
This study evaluates drug-drug interactions between AT2220 (duvoglustat) and recombinant human alpha-glucosidase (rhGAA, also known as alglucosidase alfa) in participants with Pompe Disease.
- Trial name
- NCT01380743
- Testing
- duvoglustat, rhGAA
- Where
- 15 sites in United States, Canada and 2 more
- Volunteers
- 25 people
- Sponsor
- Amicus Therapeutics
Sanfilippo Syndrome Type B
Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)
The purpose of this study is to evaluate the natural course of disease progression in Mucopolysaccharidosis Type III (MPS IIIB) patients who are untreated to identify potential surrogate endpoints that may be utilized in future…
- Trial name
- NCT01509768
- Where
- 4 sites in United States, Germany and 1 more
- Volunteers
- 19 people
- Sponsor
- Shire
Hypercholesterolemia, Familial, Hyperlipidemia
Carotid B-Mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrpib/Atorvastatin to Atorvastatin Alone.
The Torcetrapib project was terminated on December 2, 2006 due to safety findings. To look at ultrasound images taken in the carotid arteries and to look at various lipids in the blood of people with heterozygous familial…
- Trial name
- RADIANCE 1 (NCT00136981)
- Testing
- torcetrapib/atorvastatin, atorvastatin
- Where
- 34 sites in United States, Canada and 6 more
- Volunteers
- 800 people
- Sponsor
- Pfizer
Healthy
A Comparative Bioavailability/Food Effect Study of Immediate-Release and Extended-Release Tramadol HCl/Acetaminophen Combination Products Following Single-Dose and Multiple-Dose Administration in Healthy Adult Volunteers
The objectives of this two-part study were to compare the single-dose and multiple-dose pharmacokinetics of extended release and immediate-release fixed combination formulations containing tramadol-HCl/acetaminophen and to…
- Trial name
- NCT00973232
- Testing
- DDS-06C (650 mg acetaminophen and 75 mg tramadol HCl), DDS-06C (650 mg acetaminophen and 75 mg tramadol), Zaldiar®
- Where
- United Kingdom
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Labopharm Inc.
Dyslipoproteinemias, Hypercholesterolemia, Familial
Prospective German Very High Cardiovascular Risk Patients Dyslipidemia Treatment Indication Registry
This is a prospective German registry for patients with dyslipidemia with very high cardiovascular risk who principally meet the Gemeinsamer Bundesausschuss (G-BA) stipulations for Proprotein convertase subtilisin/kexin like type…
- Conditions
- Dyslipoproteinemias, Hypercholesterolemia, Familial, Familial Hypercholesterolemia - Homozygous, Familial Combined Hyperlipidemia
- Trial name
- PERI-DYS (NCT03110432)
- Testing
- PCSK9 Inhibitor [EPC], Standard lipid lowering therapy
- Where
- 3 sites in Germany
- Volunteers
- 1,695 people
- Sponsor
- GWT-TUD GmbH
Adrenoleukodystrophy, Metachromatic Leukodystrophy
HSCT for High Risk Inherited Inborn Errors
Hematopoietic stem cell transplantation has proven effective therapy for individuals with adrenoleukodystrophy (ALD), metachromatic leukodystrophy (MLD) or globoid cell leukodystrophy (GLD, or Krabbe disease).
- Conditions
- Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Tay Sachs Disease
- Trial name
- NCT00383448
- Testing
- Clofarabine, Total body Irradiation, Melphalan
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Postoperative Complication, Recovery, Physiological
Assessment of the Impact of Intestinal Gas Emission Quality on the Postoperative Course After Abdominal Surgery
The recovery of transit after surgery is an important parameter in postoperative evaluation. It generally reflects simple postoperative outcomes and allows the patient to return home.
- Trial name
- FLATQUAL (NCT06675097)
- Where
- 2 sites in France
- Volunteers
- 200 people
- Sponsor
- University Hospital, Angers
Amyloid Cardiomyopathy
Effect of Radiotherapy on ATTR Cardiac Amyloidosis : a Proof of Concept Study
Cardiac amyloidosis is responsible for significant morbidity associated with heart failure, and carries a poor prognosis. Currently there are very limited treatment options for this condition.
- Trial name
- NCT03397810
- Testing
- low dose radiotherapy
- Where
- Switzerland
- Volunteers
- 36 people
- Sponsor
- Philippe Meyer
Familial Hypercholesterolemia, Nutrition, Healthy
Unravelling the Impact of Diet on Cardiovascular Health in Treated Heterozygous Familial Hypercholesterolemia.
The investigators will conduct a fully controlled dietary randomized crossover trial (RCT) including 10 adults with HeFH using lipid-lowering medication to investigate the impact of a diet low in red and processed meats and high…
- Conditions
- Familial Hypercholesterolemia, Nutrition, Healthy, Cholesterol, Elevated
- Trial name
- NCT06389825
- Testing
- Healthy diet
- Where
- Canada
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- Laval University
Wilson Disease
Single Daily Dosage of Trientine for Maintenance Treatment for Wilson Disease
Hypothesis: The investigators postulate that patients with Wilson disease who are asymptomatic or who have been effectively treated for their symptoms and are in a maintenance phase therapy can be safely and effectively treated…
- Trial name
- NCT01472874
- Testing
- Once a day Trientine
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Yale University
Pompe Disease
Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
This is a longitudinal natural history study of Infantile Pompe disease. The investigators will regularly collect and review medical information regarding the diagnosis of Pompe disease, response to enzyme replacement (ERT) using…
- Trial name
- NCT01665326
- Testing
- Observational
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- Duke University
Patients Waiting for a Liver Transplant.
Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant.
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-1 (NCT02852304)
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Hospices Civils de Lyon
X-linked Hypophosphatemia
Using Different Doses of Active Vitamin D Combined With Neutral Phosphate in Children With X-linked Hypophosphatemia
X-linked hypophosphatemia (XLH) is the most common form of heritable rickets. Current treatments include active vitamin D metabolites (e.g. calcitriol) and phosphate salts.
- Trial name
- NCT03820518
- Testing
- Calcitriol
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Peking Union Medical College Hospital
Generalised Lipodystrophy, Partial Lipodystrophy
MEASuRE: Metreleptin Effectiveness And Safety Registry
The study is a post-authorization, prospective, voluntary registry of patients treated with commercial metreleptin including, but not limited to, patients in the US and EEA.
- Trial name
- MEASuRE (NCT02325674)
- Testing
- Metreleptin
- Where
- 28 sites in United States, France and 3 more
- Volunteers
- 100 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Refractory Gout
A Study of IN026 in Participants With Refractory Gout
The goal of this clinical study is to learn if IN026 Injection is safe and works to lower uric acid levels in adults with refractory gout (gout that does not respond well to standard treatments).
- Trial name
- NCT07587684
- Testing
- IN026 Injection
- Where
- China
- Volunteers
- 16 people
- Sponsor
- Union Hospital, Tongji Medical College, Huazhong University of Science and Technology
Primary Hyperoxaluria
Primary Hyperoxaluria Mutation Genotyping/Phenotyping
Specific mutations relating to hyperoxaluria will be determined via DNA analysis by the Mayo RKSC research staff.
- Trial name
- NCT02340689
- Testing
- Genetic Analysis
- Where
- United States
- Volunteers
- 1,235 people
- Sponsor
- Mayo Clinic
Hypercholesterolemia, Cognitive Dysfunction
The Dual Impact of Homocysteine and Cholesterol on Cognitive Functions
The study evaluates if the relationship between total serum cholesterol is dependent on the total serum homocysteine. Fasting blood samples will taken from participants and two batteries of cognitive scales will be used to asses…
- Conditions
- Hypercholesterolemia, Cognitive Dysfunction, Hyperhomocysteinemia
- Trial name
- NCT03631238
- Testing
- Blood sampling for total cholesterol and homocysteine and cognitive assessment by psychometric tests.
- Where
- Egypt
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Assiut University
Wilson Disease
rTMS in Wilson Disease Dysarthria
Wilson disease is a hereditary hepatic and neurological disease associated with copper accumulation. Neurological symptoms are of extra-pyramidal, cerebellar and dystonic origin.
- Trial name
- WILSTIM2 (NCT04910581)
- Testing
- rTMS
- Where
- 2 sites in France
- Volunteers
- 18 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.