News

The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…

The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.

Khondrion has dosed the first patient in a Phase 2b clinical trial evaluating sonlicromanol, its lead investigational therapy for treating a range of mitochondrial diseases in adults. Sonlicromanol is being developed as a treatment for MELAS — mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes — and…

Kevin Schaefer hadn’t been in an airport since he was 4 years old, so he had been looking forward to flying from his home in Cary, North Carolina, to Anaheim, California, in June for the 2019 Cure SMA Conference. As it turned out, his experience didn’t go as expected.

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…

NeuroVive Pharmaceutical AB has completed recruitment of healthy subjects for the second part of an ongoing Phase 1a/b study testing its oral treatment candidate KL1333 for primary mitochondrial disease. The company also announced that it will soon begin the third part of this three-part, double blind, randomized, placebo-controlled,…

Treatment candidate elamipretide did not meet expectations stemming from promising early trial results in patients with primary mitochondrial myopathy (PMM), data from a Phase 3 trial show. Elamipretide is an experimental medicine designed to treat both inherited primary mitochondrial diseases and mitochondrial dysfunction in age-related diseases. It…

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…

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…

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…