News

Treatment with cysteamine bitartrate, already used in patients with a rare kidney disorder, could be effective in people with mitochondrial disease, according to preclinical results. The study, “Pre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial respiratory chain disease,” was published in the journal…

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…

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)…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…

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…

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…

For more than four decades, comedian Jerry Lewis hosted the MDA Labor Day Telethon on behalf of the Muscular Dystrophy Association. That annual event helped the MDA become the nation’s largest non-government source of funding for neuromuscular disease research, with more than $1.4 billion disbursed since its establishment 68…

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…

An interdisciplinary University of Arkansas research team has been awarded a grant by the National Institutes of Health to find better and faster diagnostic tools for mitochondrial diseases. The team — led by Kyle Quinn, assistant professor of biomedical engineering, and Shilpa Iyer, assistant professor of…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…