Joana Carvalho, PhD,  —

An independent Data Safety Monitoring Board (DSMB) has found GS030, GenSight Biologics’ candidate gene therapy for retinitis pigmentosa, safe and recommended the company’s PIONEER trial continue as planned. PIONEER (NCT03326336) is a Phase 1/2 trial currently investigating the safety and tolerability of increasing doses of GS030…

GenSight Biologics announced it has finished a pre-submission meeting with the European Medicines Agency (EMA), a key step in filing a request for the approval of Lumevoq, its gene therapy for Leber hereditary optic neuropathy (LHON). The company expects to file the request, called a marketing authorization…

Transplanting mitochondria — the cell compartments responsible for the production of energy in our body — from healthy skeletal muscle cells provides a short-term energy boost in heart cells, a study has found. These findings suggest that mitochondria transplants could one day be used therapeutically to treat mitochondrial…

Patients with Leber hereditary optic neuropathy (LHON), a rare genetic mitochondrial disease that causes vision loss, experienced a dramatic and mostly irreversible loss of visual acuity, according to an interim analysis of a natural history study. The retrospective, observational study, called REALITY (NCT03295071), was launched to document…

A new mouse model may help scientists deepen their knowledge about mitochondria, the cell compartments responsible for the production of energy in the body, as well as their understanding about certain diseases, including mitochondrial disorders and diabetes. The disease model, called MitoRibo-Tag mice, allowed researchers to study,…

A recent report that describes the case of a teenager with severe symptoms of multiple mitochondrial diseases, contends it may have been caused by a mutation in a gene found in the nuclei, which is the compartment that stores cells’ genetic information. The case report study, “Mitochondrial single-stranded…

GS010, a gene therapy developed by GenSight Biologics, continues to lead to sustained improvements in visual acuity in patients with Leber hereditary optic neuropathy (LHON), a rare genetic mitochondrial disease that causes vision loss, data from a Phase 3 trial show. The findings are based on…

GenSight Biologics has completed full patient enrollment ahead of schedule for its ongoing Phase 3 trial assessing the safety and efficacy of GS010, the company’s gene therapy designed to improve visual acuity in patients with Leber hereditary optic neuropathy (LHON), a rare genetic mitochondrial disease that causes…

Symptoms vary greatly among people with mitochondrial disease linked to any one of the many mutations evident in the MT-ATP6 gene, a study found, and its researchers call for better tests to diagnose this disease in all its forms and determine the best course of treatment for each patient. The…

Reneo Pharmaceuticals has raised $50 million to support the development of therapies for mitochondrial diseases associated with defects in cells’ metabolism and energy production. The company’s fundraising includes contributions from several large investors, including Lundbeckfonden Ventures, Pappas Capital and RiverVest Venture Partners. Part of…