Leigh syndrome

April 9, 2015April 9, 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 associated ... Read more

March 30, 2015March 30, 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 way ... Read more

March 23, 2015March 23, 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 Phase ... Read more

February 24, 2015February 24, 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 from ... Read more