Ana Pena, PhD,  —

Khondrion has dosed the first patient in a Phase 2b clinical trial evaluating sonlicromanol, its lead investigational therapy for treating a range of mitochondrial diseases in adults. Sonlicromanol is being developed as a treatment for MELAS — mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes — and…

Researchers have identified two novel variants of the BCS1L gene, linking one to a mitochondrial disease with progressive kidney failure in an adult, and the other to an infant with GRACILE syndrome. Given the scarce information available on BCS1L genetic variants and their outcomes for patients, researchers recommend…

Some children with mitochondrial diseases, such as Leigh syndrome, may benefit from using mTOR inhibitors like everolimus, an approved oral medicine for other conditions, a case series suggests. That treatment led to sustained improvements in a 2-year-old girl with Leigh syndrome, restoring her ability to walk and lessening…

The Barth Syndrome Foundation (BSF) and the Barth Syndrome UK announced the start of the CARDIOMAN clinical trial evaluating whether bezafibrate, a cholesterol medicine, can treat boys and men with a rare mitochondrial disease called Barth syndrome. The trial is running in Bristol, England, and…

Researchers have created the first laboratory model of epilepsy caused by mitochondrial disorders with the potential to improve scientists’ understanding of how this condition unfolds and to develop therapies to combat it. Until now, no animal models were available to study this severe form of epilepsy, but this new…

Increasing the number of copies of mitochondrial DNA, or mtDNA, may relieve symptoms of mitochondrial diseases and provide a new treatment approach for these disorders, a preclinical study in mice suggests. Because absolute levels of mtDNA can influence disease symptoms, pharmacological or…

Stealth BioTherapeutics has completed patient enrollment for its Phase 3 trial ongoing in the United States to evaluate efficacy and safety of daily under-the-skin injections of elamipretide (MT-131), an investigational treatment for primary mitochondrial myopathy (PMM)…

Researchers have found that certain mutations in the mitochondrial genes, which alone don’t seem to cause disease, are sufficient to trigger Leber’s hereditary optic neuropathy (LHON) when combined. Based on their findings, researchers defend a new approach for diagnosing LHON and perhaps other mitochondrial…

Enrollment has been completed for a Phase 2/3 trial to evaluate the safety, effectiveness, and tolerability of investigational therapy elamipretide in patients with Barth Syndrome, a rare mitochondrial disorder, Stealth BioTherapeutics announced.  In July 2017, the company launched the randomized trial, called TAZPOWER (NCT03098797…