More than one-fifth of patients who are carriers of the m.3243A>G mutation, one of the most common genetic variants linked to MELAS spectrum disorder, have a significantly higher fear of disease progression, a study shows. Recognizing this fear as a limiting psychological symptom with real implications in a person’s…

Heart arrhythmia could be a common medical condition occurring in people with MELAS syndrome, according to a recent case study report from researchers in Arkansas, Ohio and Texas. The recently published report, titled “Arrhythmia as a cardiac manifestation in MELAS syndrome” appeared in the journal Molecular Genetics and…

A new study recently published in the Chinese Medical Journal reviewed the diagnostic resources currently available for a mitochondrial disease called mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). The study is entitled “Progress in Diagnosing Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like…

New mutations in two mitochondrial genes, found through biopsies taken after years of complaints, led to mitochondrial complex I deficiency — with widely differing symptoms — being diagnosed in two patients, a case study reported. These findings highlight the importance of muscle biopsies taken to identify a disease, and to confirm…

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…

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…

Clinicians may be able to avoid unnecessary fear and inappropriate care by categorizing patients as “diagnosis uncertain” instead of “possible” mitochondrial disease when suspected cases have not yet been genetically confirmed, a review study suggests. In addition, a definitive diagnosis requires the detection of a disease-related genetic defect, according…

A second early clinical trial evaluating KL1333, an investigational treatment for genetic mitochondrial diseases, has enrolled its first participant, NeuroVive announced. The Phase 1a/b trial (NCT03888716) of this small molecule treatment is recruiting healthy people and those with a genetic mitochondrial disease at its single site in…

Swedish innovation agency Vinnova has awarded $166,252 (1.5 million kroner) to NeuroVive Pharmaceuticals for the preclinical development and large-scale manufacture of its therapeutic candidate NV354 for mitochondrial diseases. The funds are the first part of a total of $554,173 (5 million kroner) that Vinnova is providing under the…

Jotrol, Jupiter Orphan Therapeutics’ lead therapeutic candidate, was found to markedly improve mitochondria production in the liver and brain of mice with Alzheimer’s disease, according to preclinical data. These recent results further demonstrate the potential of the investigational therapy to modify mitochondria stability and function, without major toxicity effects.