View clinical trials related to Lipid Metabolism, Inborn Errors.
Filter by:This is a medical research study to test a medication in patients 10 years of age and older with a disease called medium-chain acyl-CoA dehydrogenase deficiency (MCADD) caused by the common ACADM c.985 A>G (K304E) mutation. The medication is sodium phenylbutyrate (ACER-001), which is currently FDA approved for the treatment of Urea Cyle Disorders. Previous research suggests that sodium phenylbutyrate may also be effective in the treatment MCADD. This study will investigate the safety and efficacy (how well it works) of sodium phenylbutyrate in patients with MCADD.
This is a medical research study to test a medication in adult patients with a disease called medium-chain acyl-CoA dehydrogenase deficiency (MCADD). The medication is triheptanoin, which is currently FDA approved for the treatment of Long-Chain Fatty Acid Oxidation Disorders. Previous research suggests that triheptanoin may also be effective in the treatment MCADD. This study will investigate the safety and efficacy (how well it works) of triheptanoin in patients with MCADD.
Primary Mitochondrial diseases are a clinically and genetically heterogeneous group of disorders caused by mutations in genes encoded by nuclear Deoxyribonucleic Acid (DNA) or by mutations and/or deletions in the mitochondrial DNA (mtDNA). While some mitochondrial disorders only affect a single organ (e.g., the eye in Leber hereditary optic neuropathy [LHON]), many involve multiple organs. Mitochondrial disorders may present at any age and a frequent feature is the increasing number of organs involved in the course of the disease. Minovia Therapeutics Ltd. ("Minovia") is a biotech company developing novel therapeutics based on its mitochondrial augmentation technology (MAT). MNV-201 is a cell therapy produced by MAT that consists of the participant's autologous CD34+ hematopoietic stem and progenitor cells (HSPCs) enriched with allogeneic placental-derived mitochondria, manufactured in Minovia's GMP facility.
This study aims to understand the state of onset of NLSD(neutral lipid storage disease) / TGCV(triglyceride deposit cardiovasculopathy) worldwide, background information of affected patients, and natural history of the disease, as well as exploring the prognostic factors and assessing the efficacy of disease-specific treatment.
The aim of this study is to determine whether high high density lipoprotein-cholesterol(HDL-C) level and low Cholesteryl Ester Transfer Protein(CETP) activity is atherogenic or not in subjects who received health checkups. We investigate the association between CETP activities and the severity of atherosclerosis assessed by intima-media thickness (IMT) and compare the atherogenic change between in subjects with high HDL-C level, low HDL-C level, high CETP activities and low CETP activities by examining the morbidity rate of atherogenic diseases, the rate of ischemic electrocardiography(ECG) change, Calc Score of artery from chest X-ray, Ankle Brachial Index/Pulse Wave Velocity and various serum atherogenic markers. And we also examine the correlation between normal lipid profile and concentration, activity and function of surface lipoprotein in subjects with variety of lipoprotein levels, including patients with hyper-LDL-cholesterolemia, hyper-HDL-cholesterolemia with low or no CETP activity, patients with high level of remnant cholesterol or hyperlipoproteinemia of apolipoprotein(Apo)B-48.