Author Archives: Alice Melão

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…

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…

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…

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…

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…

Researchers from the Shahrekord University of Medical Sciences, in Iran presented the most recent findings of the clinical effects of the hormone melatonin on the development of diseases related to mitochondrial dysfunction, such as diabetes, cancer, gastrointestinal diseases, and conditions related to brain function. The review study, “Melatonin…

Movement disorders are common among patients with mitochondrial diseases (MIDs). From mild tremors to severe involuntary movements, a broad spectrum of symptoms can be indicative of mitochondrial disease and should prompt an investigation as a possible diagnosis. Many people have the genetic mutations associated with MID development. They can occur in mitochondrial…

A new mutation in a gene called NDUFA10 was identified as the cause of mitochondria energy metabolism deficiency in a child with Leigh syndrome (LS). This is the third study reporting NDUFA10 gene involvement in LS and its impact on disease symptoms. The case report, “Widening the Heterogeneity of Leigh…

China’s XW Laboratories and the University of Pittsburgh have signed an exclusive licensing agreement to commercialize a class of novel compounds that can be used to regulate mitochondria processes in a range of cancers and neurodegenerative diseases. Mitochondria control energy production, metabolism and stress response in cells, as well as cell death.