Clinical Trials Logo

Lipid Metabolism, Inborn Errors clinical trials

View clinical trials related to Lipid Metabolism, Inborn Errors.

Filter by:

NCT ID: NCT06069375 Recruiting - Clinical trials for Medium-chain Acyl-CoA Dehydrogenase Deficiency

Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

Start date: April 1, 2024
Phase: Phase 2
Study type: Interventional

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.

NCT ID: NCT06067802 Recruiting - Clinical trials for Medium-chain Acyl-CoA Dehydrogenase Deficiency

Study of Triheptanoin for the Prevention of Hypoglycemia in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

Start date: August 2024
Phase: Phase 2
Study type: Interventional

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.

NCT ID: NCT06017869 Recruiting - Clinical trials for Mitochondrial Diseases

Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-201 in Pediatric Patients With Pearson Syndrome

Start date: July 31, 2023
Phase: Phase 1
Study type: Interventional

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.

NCT ID: NCT05425745 Active, not recruiting - Clinical trials for Hypercholesterolemia

Evaluate the Effect of Obicetrapib in Patients With HeFH on Top of Maximum Tolerated Lipid-Modifying Therapies.

BROOKLYN
Start date: July 25, 2022
Phase: Phase 3
Study type: Interventional

This study will be a placebo-controlled, double-blind, randomized, phase 3 study to Evaluate the Efficacy, Safety, and Tolerability of Obicetrapib in Participants with a History of Heterozygous Familial Hypercholesterolemia (HeFH).

NCT ID: NCT03531554 Completed - VLCAD Deficiency Clinical Trials

Acute Nutritional Ketosis in VLCAD Deficiency

Start date: April 1, 2016
Phase: N/A
Study type: Interventional

To test if a ketone-ester based drink can boost muscle mitochondrial function in vivo in patients with VLCADD in order to establish a rational basis for therapeutic use in this disorder.

NCT ID: NCT03393130 Not yet recruiting - Critical Illness Clinical Trials

Perioperative Research Into Memory, Genomics in the Intensive Therapy Unit: Alzheimer's

PRIMoGenITA
Start date: February 1, 2018
Phase: N/A
Study type: Observational

The current central dogma of long-term cognitive impairment after intensive care admission suggests an underlying neuroinflammatory dysregulation affecting neuronal function. This pathological process has not been fully elucidated and there has been little research into its genetic associations. Alzheimer's disease (AD) causes cognitive impairment through a process of abnormal beta amyloid deposition and neuronal death through localised activation of the innate immune system. It is the most prevalent disease affecting cognition. The Apolipoprotein E (APOE) gene is implicated in the progression of late-onset Alzheimer's disease and is a recognised neuroinflammatory modulator. It is possible that young individuals exposed to high levels of inflammation may experience an acceleration of this process. This study sets out to look for an association between APOE-∈4 possession and poor cognitive outcome after a major burn injury and intensive care admission.

NCT ID: NCT03384420 Completed - Clinical trials for Mitochondrial Diseases

A Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD in Pediatric Patients With Pearson Syndrome

Start date: February 13, 2019
Phase: Phase 1/Phase 2
Study type: Interventional

Mitochondrial diseases are a genetically heterogeneous group of disorders caused by mutations or deletions in mitochondrial DNA (mtDNA) displaying a wide range of severity and phenotypes. These diseases may be inherited from the mother (mitochondrial inheritance) or non-inherited. The latter are ultra-rare pediatric diseases caused by a mutation or deletion of mtDNA, which develop into a systemic multi organ disease and eventually death. MNV-BM-BLD is a therapeutic process for enrichment of patient's peripheral hematopoietic stem cells with normal and healthy mitochondria derived from donor blood cells. The process, called mitochondria augmentation therapy, aims to reduce the symptoms of mitochondrial diseases.

NCT ID: NCT03198897 Withdrawn - Clinical trials for Lipoprotein Lipase Deficiency

Biomarker for Homozygous Familial Hypercholesterolemia (BioHoFH)

BioHoFH
Start date: August 20, 2018
Phase:
Study type: Observational

Development of a new MS-based biomarker for the early and sensitive diagnosis of Homozygous familial Hypercholesterolemia from blood

NCT ID: NCT02918032 Recruiting - Clinical trials for Neutral Lipid Storage Disease

International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases

Start date: January 2014
Phase:
Study type: Observational

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.

NCT ID: NCT02830763 Terminated - Clinical trials for Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV)

Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M

Start date: September 5, 2016
Phase: N/A
Study type: Interventional

This study is planning to evaluate the safety and clinical efficacy of medium-chain fatty acid capsules (food-grade CNT-02) in subjects with primary triglyceride deposit cardiomyovasculopathy (TGCV) and neutral lipid storage disease with myopathy (NLSD-M) associated with adipose triglyceride lipase (ATGL) genetic defects.