News

Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…

Treating pulmonary arterial hypertension (PAH) patients with the generic medicine dichloroacetate (DCA), which activates mitochondrial function, decreased pulmonary arterial pressure and improved the ability to walk, a new study shows. The study, “Inhibition of pyruvate dehydrogenase kinase improves pulmonary arterial hypertension in genetically susceptible patients,” was published in the…

Boston Children’s Hospital researchers have developed a device that can detect real-time oxygen levels in mitochondria and predict the effect those levels will have on organs. Their study dealt specifically with predicting heart failure, a common consequence of mitochondrial disease. The team collaborated with Pendar Technologies on the device’s development. Their…

A global panel of leading experts in the field of mitochondrial optic neuropathies has issued a consensus statement to provide clinical and therapeutic guidance for the management of Leber’s hereditary optic neuropathy (LHON). Focusing on Santhera Pharmaceuticals’ Raxone (idebenone), the only treatment approved by the European…

Researchers at McGill University in Canada discovered how mitochondria may support cancer cells’ survival even during periods of nutrient starvation. The finding puts mitochondria in the spotlight as regulators of cells’ fate and suggests that therapies targeting mitochondria can aid anti-cancer strategies. The study “mTOR Controls Mitochondrial Dynamics and…

More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…

The latest clinical data continue to demonstrate the therapeutic potential of GenSight Biologics‘ lead candidate GS010 for the treatment of Leber’s Hereditary Optic Neuropathy (LHON), a rare mitochondrial disease. These data further support ongoing Phase 3 clinical trials. Trial data were presented at the 25th annual congress of the …

As Congress begins debate this week to overhaul the U.S. tax code, lawmakers should leave the Orphan Drug Act (ODA) — and the tax incentives it offers pharmaceutical companies to develop therapies for rare diseases — off the table. That’s the message being pushed by the National Organization for…

Researchers report that KH176, under development for the treatment of mitochondrial disease, is well-tolerated when administered to healthy men. The study “KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers” was published in the journal Orphanet Journal of…

Researchers have discovered a key piece of information that may advance knowledge of how interactions between mitochondria and other structures contribute to neurodegeneration. A study published in the Journal of Biological Chemistry identified specific proteins that are required for interactions between mitochondria and the endoplasmic reticulum (ER), which is responsible…