Leigh syndrome

June 3, 2016June 6, 2016

In Vitro Study Shows Positive Effects of Ketogenic Diet on Mitochondrial Function in Leigh Syndrome

Leigh syndrome, News

Researchers recently tested the effects of the high-fat, low carbohydrate ketogenic diet on fibroblasts from patients with Leigh syndrome (LS), focusing on decanoic acid. The results suggest that this ... Read more

October 27, 2015June 29, 2017

Effective Therapies and Diagnostics for Mitochondrial Disease Remain an Unmet Need

Mitochondrial myopathy is a collective term for diseases related to defective mitochondria in cells. In patients with mitochondrial myopathy, mitochondria are not able to undergo normal oxygen consumption and ... Read more

June 2, 2015June 2, 2015

Mutations in ECHS1 Gene Found to be Linked to a New Mitochondrial Disease

Leigh syndrome

A recent study led by a large international research team recently characterized a new mitochondrial disease associated with specific gene mutations. The study is entitled “Deficiency of ECHS1 causes mitochondrial encephalopathy ... Read more

April 9, 2015June 1, 2015

Whole Exome Sequencing Useful to Diagnose Leigh Syndrome

Leigh syndrome

Even if two individuals are affected by the same disease, such as Leigh syndrome, they may not have identical symptoms or causes of disease. For example, Leigh syndrome is ... Read more

March 30, 2015June 1, 2015

Study Investigates Simple Diagnosis for Cytochrome c Oxidase Deficiency

Leigh syndrome

Children with mitochondrial disorders most commonly are deficient in cytochrome c oxidase (CIV), a protein involved in the electron transport chain the membrane of the mitochondria. The gold standard ... Read more

March 23, 2015June 1, 2015

Raptor Pharmaceuticals’ Experimental Therapy in Phase 2 / 3 Trial for Leigh Syndrome

Kearns-Sayre syndrome, Leigh syndrome, Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia

Raptor Pharmaceuticals Inc. is looking to bring relief to a wide variety of young patients with inherited mitochondrial disease through its therapeutic called RP103 (cysteamine bitartrate delayed-release capsules). A ... Read more

February 24, 2015June 1, 2015

Novel Therapy for Multiple Mitochondrial Diseases Now in Clinical Trials

Friedreich's Ataxia, Kearns-Sayre syndrome, Leigh syndrome

Edison Pharmaceuticals is actively engaged in a number of phase 2 clinical trials investigating their drug candidate EPI-743 in a variety of mitochondrial respiratory chain diseases. The studies range ... Read more