Throughout 2015, Mitochondrial Disease News reported on studies into therapies, insights into the mechanisms underlying mitochondrial diseases, and related events. As the year comes to an end, here are the 10 articles most viewed by Mitochondrial Disease News readers, each with a brief summary of the developments that made them of such interest to mitochondrial patients, caregivers and their loved ones.
This article focused on the report that mitochondria seems to play a previously unknown role in mind-body interactions, with implications for stress-related diseases, psychiatric and neurological disorders, and also human psychology. Researchers believe that genetic variations in mitochondrial genes affect bioenergetics and can have significant effects on the brain. The finding may help develop new and more effective treatments for neuropsychiatric syndromes and stress-related diseases.
Researchers discovered a new distinct metabolic signature of mitochondrial dysfunction in Leigh syndrome French Canadian variant (LSFC), a syndrome where patients exhibit several hallmarks of mitochondrial disorders. The finding of alterations in certain metabolic mechanisms may help identify biological markers for disease severity, progression, and response to therapeutics.
A study reported a new advance in combined stem cell and gene therapies for the treatment of mitochondrial diseases — specifically, the possibility of genetically correcting stem cells from patients with mitochondrial DNA mutations and generating stem cells with healthy mitochondria. The study offers an important step forward toward therapeutic interventions for patients with mitochondrial diseases.
Researchers showed that a vitamin B3 form, nicotinamide riboside, is an effective treatment against mitochondrial myopathy, promoting mitochondria biogenesis and delaying disease progression. The scientists believe that oral administration of nicotinamide riboside has the potential to treat adult-onset mitochondrial myopathy.
The article reviews mitochondria features and functioning, and focuses on several disorders that can be classified as a “mitochondrial disease,” including mitochondrial myopathies. Data is also discussed on Reata Pharmaceuticals’ product RTA 409, currently being tested as a therapy for mitochondrial myopathy; Stealth BioTherapeutics’ Bendavia and Ocuvia, drugs that target mitochondrial dysfunction; and Raptor Pharmaceuticals’ RP103 (PROCYSBI) for the treatment of several mitochondrial diseases.
Edison Pharmaceuticals provided an update on clinical trials assessing the company’s product EPI-743 in a variety of mitochondrial respiratory chain diseases. EPI-743 is designed to regulate enzymes in the brain that are a part of energy metabolism, having been shown so far to improve disease symptoms.
Researchers reported that trauma-induced peripheral neuropathy (damage to a nerve outside the brain and spinal cord) is associated with mitochondrial dysfunction, increased metabolic need, and a bioenergetic impairment. Researchers suggested that therapeutic agents able to normalize mitochondrial and bioenergetic dysfunction might have a clinical benefit in patients experiencing pain due to injured nerves.
A new method to significantly reduce the time necessary to reprogram and genetically correct stem cells to be used in therapeutic regenerative medicine may speed the development of therapies for several disorders, including mitochondrial diseases.
NeuroVive Pharmaceutical AB presented promising preclinical results from its Complex I Deficiency discovery program at the 6th World Congress on Targeting Mitochondria in Berlin, Germany. The program is centered on the development of succinate pro-drug candidates, an essential substrate in the mitochondrial energy cycle. Researchers showed hope that these drugs can improve mitochondrial respiration and represent a potential therapeutic for Complex I disorders.
The study focused on mitochondrial myopathy, a condition with a high unmet medical need, especially in terms of treatment approaches. Several clinical trials that have evaluated, or are evaluating, therapies for the condition are discussed, in particular MTP-131 (Bendavia, Stealth BioTherapeutics) that has been shown to improve mitochondria respiration and rate of energy production in animal models, RTA 408 (Reata Pharmaceuticals) which may improve energy metabolism and relieve disease symptoms, and RP103 (cysteamine) that may reduce the level of oxidative damage in cells. Treatments based on genetic and stem cell approaches are also discussed, although future studies are required before these approaches can be translated into clinical use.
New and promising discoveries in mitochondrial diseases are expected in 2016, especially as knowledge improves about conditions where mitochondrial dysfunction plays a role. Mitochondrial Disease News will continue to cover developments that ultimately contribute to improving the lives of patients living with mitochondrial diseases.