News

NeuroVive Pharmaceutical has received a Swedish innovation agency grant worth $118,000 that it will use to accelerate work on a treatment it is developing for genetic mitochondrial disease. The agency, Vinnova, made the 1-million-kroner grant under the government’s Swelife call program, which supports collaborations between the medical system, universities and industry that…

A new tool to help in the diagnosis and outcome prediction of mitochondrial disease has been created by researchers from the U.S. and Finland, according to a study. Findings from the study, “Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database,” appeared in the journal…

Kidney involvement in primary mitochondrial disorders (MIDs) is more frequent than anticipated and often is an important factor in the outcome of those with MIDs, a recent review found. The study, “Renal manifestations of primary mitochondrial disorders,” published in Biomedical Reports, stated that this link often goes unrecognized. Renal symptom management…

Douglas C. Wallace, PhD, a researcher at Children’s Hospital of Philadelphia (CHOP), was awarded the 2017 Benjamin Franklin Medal in Life Science for his contributions to the understanding of mitochondrial biology. Wallace achieved international prominence as the founder of mitochondrial genetics. His studies into mitochondrial DNA mutations associated…

Low levels of oxygen, or hypoxia, may prevent and even reverse brain lesions associated with Leigh syndrome, a mitochondrial disease. The study, “Hypoxia treatment reverses neurodegenerative disease in a mouse model of Leigh syndrome,” appeared in the journal PNAS. Leigh syndrome is a rare genetic disorder linked to mutations…

In an editorial published in the journal Pediatric Neurology, Steven G. Pavlakis, MD, comments on the findings of three studies concerning the many aspects of disease manifestation of children with mitochondrial disease. The commentary, “Filling in the Gaps of Mitochondrial Disease in Children,” underscores that, although the first…

KL1333, a new potential treatment for orphan genetic mitochondrial disorders, is entering Phase 1 studies, thanks to an accord between NeuroVive and Yungjin Pharm. Under terms of the contract, Sweden’s NeuroVive gains exclusive worldwide rights to develop and commercialize KL1333 except in South Korea and Japan. The deal could generate up to…

Use of eye drops to deliver an investigational compound called SkQ1 can help reduce the central vision symptoms of patients with mitochondrial disease Leber’s Hereditary Optic Neuropathy (LHON), results from a Phase 2 clinical study show. LHON is a genetic condition characterized by the occurrence of mutations in mitochondrial…

Santhera Pharmaceuticals, developer of the mitochondrial eye disease therapy Raxone, is taking a seat on the United Mitochondrial Disease Foundation industry advisory council. Dr. Jodi Wolff, who is known for her expertise on the disease and her patient advocacy work, will represent Santhera on the council. She is the company’s director…

An investigational gene therapy, GS010, is showing some promise in helping people who recently began to lose their vision due to Leber’s hereditary optic neuropathy (LHON), according to data from an ongoing clinical trial. A presentation of the data, “Intravitreal rAAV2/2-ND4 (GS010): A gene therapy for vision loss in Leber’s Hereditary…