News

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

Researchers have found that certain mutations in the mitochondrial genes, which alone don’t seem to cause disease, are sufficient to trigger Leber’s hereditary optic neuropathy (LHON) when combined. Based on their findings, researchers defend a new approach for diagnosing LHON and perhaps other mitochondrial…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…

Enrollment has been completed for a Phase 2/3 trial to evaluate the safety, effectiveness, and tolerability of investigational therapy elamipretide in patients with Barth Syndrome, a rare mitochondrial disorder, Stealth BioTherapeutics announced.  In July 2017, the company launched the randomized trial, called TAZPOWER (NCT03098797…

A potential oral treatment of mitochondrial myopathies called omaveloxolone (RTA 408) appears to improve the mitochondrial function of patients at an optimal dose of 160 mg, top-line data from a Phase 2 clinical trial shows. Data comes from the 12-week, dose-ranging Phase 2 MOTOR trial (NCT02255422), which assessed the…

A gene therapy designed to correct the underlying defect that causes mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) could potentially improve survival in patients with the disease, a mouse study suggests. The potential therapeutic strategy was described in the study, “Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial…

South Korean researchers have developed a simple way to deliver healthy mitochondria to cells where it is dysfunctional, rescuing the cells’ energy levels and metabolic function. The study, “Delivery of exogenous mitochondria via centrifugation enhances cellular metabolic function,” was published in the journal Scientific Reports. Defects in mitochondria,…

Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in Washington, D.C., helping it to strengthen care available and expand as a “center of excellence” for rare…

Phase 1/2 trial long-term clinical data on GS010 showed that it is safe and can improve visual acuity in patients with Leber hereditary optic neuropathy (LHON), a mitochondrial disease that affects the eyes. Although the trial (NCT02064569) had not been designed or powered to assess the effectiveness…

In recognition of Rare Disease Day 2018, BioNews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families. The three are among 50 events in 32 states…