News

Researchers at Australia’s University of Sydney have developed a blood test capable of identifying mutations in mitochondrial genes. This new test allows a faster diagnosis of rare and often undiagnosed mitochondrial diseases and, when available, will allow affected patients to get prompt treatment. The study, “Mutations in CYC1, Encoding Cytochrome c1 Subunit of…

Defects in a gene called iron-sulfur cluster assembly 1 homolog (ISCA1) were found in four children from two unrelated Indian families. These findings suggest that defects within the ISCA1 gene may underlie a new type of a mitochondrial genetic disease, called “multiple mitochondrial dysfunction syndrome.” The report “Homozygous p.(Glu87Lys) variant in…

British infant Charlie Gard died July 28 from mitochondrial disease just a week before his first birthday, but his parents’ failed efforts to bring their baby to the United States for treatment focused worldwide attention on the rare disorder. Now a 5-month-old boy in Kalamazoo, Michigan, has a similar incurable…

The U.S. Food and Drug Administration has warned a New York fertility doctor not to market his controversial three-parent embryo procedure as a way to prevent or cure inherited mitochondrial disease. Dr. John Zhang, CEO and medical director of New Hope Fertility Center, made international headlines in 2016 when he…

Scientists have developed a new strategy for diagnosing mitochondrial diseases and identified the Mrps34 gene as a cause for Leigh syndrome. The study, “Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome,” was published in The American Journal of Human Genetics. Diagnosing…

GenSight Biologics has completed enrollment in a second Phase 3 clinical trial of GS010 as a treatment for the mitochondria eye disease Leber’s Hereditary Optic Neuropathy, or LHON. Both trials are evaluating GS010 as a therapy for LHON that stems from a mutation of the ND4 mitochondria gene. The hallmark…

Experts from multiple disciplines have released updated guidelines for the treatment and management of patients with mitochondrial diseases. The review, “Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society,” appeared in Genetics in Medicine — the official journal of the American College of Medical…

Epilepsy is a common manifestation of mitochondrial disorders for about half of the people with the energy-production malfunction. In most cases, doctors can use epilepsy therapies to treat epilepsy stemming from mitochondrial problems. But the treatments can worsen mitochondrial disorders that are caused by POLG1 gene mutations, according to a review…

A Phase 2/3 clinical trial of elamipretide, a potential treatment for a rare mitochondrial disease known as Barth syndrome, is now enrolling patients, the therapy’s developer, Stealth BioTherapeutics, announced. The TAZPOWER study (NCT03098797) will be conducted in McKusick-Nathans Institute of Genetic Medicine, at the Johns Hopkins University School…

[Updated 2:00 pm ET — According to multiple sources, Charlie Gard’s parents have indicated that they will withdraw their legal bid in the United Kingdom to allow their son to seek experimental treatment, citing recent MRI scans that clearly show that the therapy would likely be ineffective and could lead to pain and…