Leigh Syndrome News and Research

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Rapamycin drug could target neural damage linked to Leigh syndrome

Salk Institute scientists showed how an FDA-approved drug boosts the health of brain cells by limiting their energy use. Like removing unnecessary lighting from a financially strapped household to save on electricity bills, the drug--called rapamycin--prolongs the survival of diseased neurons by forcing them to reduce protein production to conserve cellular energy.

27 Apr 2016

Salk researchers move one step closer to making cures for genetic diseases a reality

Healthy brain, muscle, eye and heart cells would improve the lives of tens of thousands of people around the world with debilitating mitochondrial diseases. Now, researchers at the Salk Institute have gotten one step closer to making such cures a reality: they've turned cells from patients into healthy, mutation-free stem cells that can then become any cell type.

16 Jul 2015

Edison's EPI-743 receives FDA orphan drug designation for treatment of Leigh syndrome

Edison Pharmaceuticals today announced that the FDA has granted Orphan Drug status to vatiquinone for the treatment of Leigh syndrome.

9 Jun 2014

Edison Pharmaceuticals' EPI-743 granted orphan designation for Leigh syndrome in Japan

Edison Pharmaceuticals has announced that the Japanese Ministry of Health, Labor and Welfare (MHLW) has granted Orphan Designation to EPI-743 for the treatment of Leigh syndrome.

21 May 2014

Transgenomic to provide genetic testing services for Raptor’s clinical trial

Transgenomic, Inc., a global biotechnology company advancing personalized medicine in cardiology, oncology, and inherited diseases through diagnostic tests as well as clinical and research services, today announced an agreement with Raptor Pharmaceuticals Inc. to provide genetic testing services for Raptor's clinical trial (RP103-MITO-001) evaluating RP103 as a potential treatment for Leigh syndrome and other inherited mitochondrial disorders.

4 Apr 2014

Edison Pharmaceuticals initiates Phase 2B/3 study of EPI-743 in children with Leigh syndrome

Edison Pharmaceuticals today announced the initiation of a phase 2B/3 study entitled, "A Phase 2B/3 Open-label Study of EPI-743 in Children with Leigh Syndrome" to be conducted in conjunction with Dainippon Sumitomo Pharma Co, Ltd.

10 Mar 2014

Edison's vatiquinone receives Orphan Status for treatment of Friedreich's ataxia

Edison Pharmaceuticals today announced that the US Food and Drug Administration has granted Orphan Status to vatiquinone for the treatment of Friedreich's ataxia.

4 Feb 2014

Researchers discover new gene mutations which cause devastating mitochondrial disorders

Researchers have identified a novel disease gene in which mutations cause rare but devastating genetic diseases known as mitochondrial disorders.

30 Aug 2013

Study may lead to personalized treatments for mitochondrial energy disorders

Researchers have identified a master network of signaling molecules that acts like a "fuse box" to regulate the cellular effects of defective energy flow in mitochondrial respiratory chain diseases—a diverse set of difficult-to-treat genetic-based energy disorders.

25 Jul 2013

Data emphasise need for comprehensive analysis of mtDNA in mitochondrial disease patients

French scientists have discovered that supposedly rare mutations in the mitochondria, the 'power plants' of human cells responsible for creating energy, account for more than 7% of patients with a mitochondrial disease manifesting itself as a respiratory deficiency.

10 Jun 2013

Positive results from Edison’s EPI-743 phase 2A study on Leigh Syndrome

Edison Pharmaceuticals today announced positive results of a recently completed phase 2A study entitled, "Prospective Open Label Study of EPI-743 in Children with Leigh Syndrome (Subacute Necrotizing Encephalomyelopathy)."

13 Sep 2012

Edison receives EMA COMP orphan designation for EPI-743 to treat Leigh syndrome

Edison Pharmaceuticals announced today that the Committee for Orphan Medicinal Products (COMP), European Medicines Agency, has granted orphan designation to EPI-743 for the treatment of Leigh syndrome.

12 Sep 2012

Researchers discover new genetic defect that can lead to Leigh syndrome

In Leigh syndrome, infants are born apparently healthy only to develop movement and breathing disorders that worsen over time, often leading to death by the age of 3. The problem is that the mitochondria responsible for powering their cells can't keep up with the demand for energy in their developing brains.

7 Sep 2011

Discovery of a genetic mutation underlying late-onset Leigh syndrome

Researchers at the Montreal Neurological Institute and Hospital (The Neuro), McGill University have discovered a genetic mutation underlying late-onset Leigh syndrome, a rare inherited metabolic disorder characterized by the degeneration of the central nervous system.

11 Aug 2009

Zebrafish shed light on human mitochondrial diseases

Zebrafish can now be used to study COX deficiencies in humans, a discovery that gives scientists an unprecedented window to view the earliest stages of mitochondrial impairments that lead to potentially fatal metabolic disorders, according to researchers at the University of Oregon.

13 Sep 2007