Leigh's Syndrome News and Research

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Children with mitochondrial disorders have weaker antibody response to viral infections, study finds

In a new study, National Institutes of Health (NIH) researchers found that altered B cell function in children with mitochondrial disorders led to a weaker and less diverse antibody response to viral infections.

7 Jul 2023

Researchers uncover cause of rare childhood neurodegenerative disease

Neurology researchers investigating a rare but devastating neurological regression in infants have discovered the cause: gene mutations that severely disrupt crucial functions in mitochondria, the energy-producing structures within cells.

23 Mar 2018

Study reveals how devastating mitochondrial diseases strike families without any previous history

Researchers have shown for the first time how children can inherit a severe - potentially fatal - mitochondrial disease from a healthy mother.

15 Jan 2018

Pioneering IVF technique offers hope to families with inheritable mitochondrial disorders

Details of a pioneering IVF technique using mitochondrial replacement therapy (MRT) have been revealed, giving hope to those families with inheritable mitochondrial disorders that they may be able to have healthy children in the future.

3 Apr 2017

U of A researchers to study origin of Leigh's disease

Researchers at the University of Arkansas and their collaborators will use a $1.4 million grant from the U.S. Department of Defense to study the origin of Leigh's disease, a rare and incurable disease that affects the central nervous system.

13 Oct 2016

Scientists identify timing of major metabolic shift in developing neurons

Our brains can survive only for a few minutes without oxygen. Salk Institute researchers have now identified the timing of a dramatic metabolic shift in developing neurons, which makes them become dependent on oxygen as a source of energy.

13 Jul 2016

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

MHI researchers receive $4.8M as grants for genetics and genomic medicine research projects

Two research teams led by Dr. Christine Des Rosiers and Dr. John D. Rioux, both researchers at the Montreal Heart Institute (MHI) and professors at the Universit- de Montr-al, have been awarded grants of $2.5 million and $2.3 million, respectively, to finance research projects on genetics and genomic medicine.

10 Feb 2010