News

The case of Charlie Gard — a baby in the U.K. with a terminal mitochondrial disease who ended up in a legal feud over continuing life support — illustrates the need for more research and awareness of mitochondrial diseases, three non-profit organizations working with such diseases wrote in a letter…

A compound that can silence a gene in a very specific manner was adapted by researchers to be used inside mitochondria — opening the possibility of manipulating genes linked to mitochondrial diseases. MITO-PIP, as the scientists call the compound, binds to a stretch of mitochondrial DNA that is involved in several disorders,…

Korean researchers have enrolled the first participant in a Phase 1 clinical trial of KL1333 as a treatment for genetic mitochondrial diseases such as MELAS and Kearns-Sayre syndrome. The healthy participant will be part of a study evaluating the therapy’s safety, tolerability, stability and the way it distributes itself in…

Mitochondrial disease is very costly to American patients and better therapies are needed urgently, say researchers at the Children’s Hospital of Philadelphia (CHOP). Their National Institutes of Health-funded study, “Hospitalizations for mitochondrial disease across the lifespan in the U.S.,” appeared in the April 2017 issue of Molecular Genetics…

The investigational drug elamipretide has therapeutic potential to improve the physical capacity of patients with primary mitochondrial myopathy (PMM), according to the latest results of the Phase 2 MMPOWER-2 study. The positive results support the further clinical development of the drug to tackle this medical condition that lacks therapeutic options. These…

Douglas Wallace, Ph.D., of the Children’s Hospital of Philadelphia, won the 2017 Dr. Paul Janssen Award for Biomedical Research for his pioneering work in the field of mitochondrial genetics. Founder and director of the Center for Mitochondrial and Epigenomic Medicine at Children’s Hospital of Philadelphia, Wallace holds the…

GenSight Biologics’ GS010 gene therapy restored some of the vision in Leber’s Hereditary Optic Neuropathy (LHON) patients whose sight had deteriorated, according to a Phase 1/2 clinical trial. The findings were from a 96-week trial (NCT02064569) assessing the long-term effectiveness and safety of GS010. LHON is a rare mitochondrial disease…

Uremia (increased blood urea levels) may promote inflammation in the adipose tissue (fat) and faulty mitochondrial activity in the muscle, which can contribute to the development of end-stage renal disease, new research indicates. The study, titled “Uremia induces adipose tissue inflammation and muscle mitochondrial dysfunction,” was published in the journal…

Tecfidera (dimethyl fumarate), an oral drug used to treat multiple sclerosis (MS), could also benefit mitochondrial disease patients as well as those with Friedreich’s ataxia (FA), concludes two studies from the University of California, Davis School of Veterinary Medicine. The first study, “Dimethyl fumarate mediates Nrf2-dependent mitochondrial biogenesis in mice and…

A mitochondria-targeting compound called mitochonic acid (MA-5) had beneficial effects on mitochondrial function, energy production, and the formation of oxidative molecules in experiments involving a mouse model of mitochondrial disease and cells from patients. The study also identified a biomarker of mitochondrial disease and the response to MA-5 — a…