Patricia Inacio, PhD,  —

A cholesterol-lowering medication, bezafibrate, taken daily for 12 weeks did not induce the formation of new mitochondria in people with mitochondrial myopathy carrying a mutation in the MTTL1 gene, a small observational study reports. Its use also altered certain metabolic pathways, changes that could raise safety concerns with longer-term use,…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

Entrada Therapeutics is developing an enzyme replacement therapy, called ENTR-501, as a potential new treatment strategy for people with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). MNGIE is a rare inherited disease caused by mutations in the nuclear TYMP gene, which encodes the thymidine phosphorylase (TP) enzyme. Low or no TP causes…

MitoPB Yellow, a new fluorescent specific marker, allows scientists to study live mitochondria, possibly leading to a better understanding of mitochondrial diseases and to new treatments, researchers in Japan report. The marker is much more stable than current markers, and allows mitochondria to be studied for extended periods without inducing…

Elamipretide (MT-131), developed by Stealth BioTherapeutics, is able to improve cardiac function in Barth syndrome patients, new data from a Phase 2/3 clinical trial show. Hilary Vernon, MD, PhD, a professor of pediatrics at Johns Hopkins Hospital, presented the findings in a presentation, titled “An interventional…

GS010, a gene therapy designed to improve vision clarity in people with Leber hereditary optic neuropathy (LHON), continues to show benefits in the second scheduled readout — at week 72 — of the Phase 3 RESCUE clinical trial, according to GenSight Biologics. The RESCUE trial (NCT02652767), underway at clinical…

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…

NeuroVive Pharmaceutical’s therapeutic candidate NV354 for mitochondrial diseases, such as Leigh syndrome, was able to restore the body’s own energy substrate — succinate — in an in vivo model of mitochondria dysfunction, preclinical results show. Moreover, researchers observed that NV354 is efficiently delivered to the brain. Magnus Hansson, PhD, NeuroVive’s…

Short-term treatment with oral KH176 was safe and well-tolerated by mitochondria disease patients, and lessened their symptoms of depression while also having a positive effect in alertness and mood, a Phase 2 clinical trial shows. The study with those findings, “The KHENERGY study: Safety and efficacy of KH176 in…

HotSpot Therapeutics has secured $45 million to advance its drug discovery strategy that identifies so-called  “hot spots” in proteins, allowing for their precise targeted regulation. Using this technology, HotSpot Therapeutics has identified hot spots in more than 100 proteins important for many diseases, including mitochondrial diseases. “HotSpot is targeting…