News

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…

NeuroVive Pharmaceutical AB and Yungjin Pharm announced positive topline results from a Phase 1 clinical trial evaluating KL1333, an investigational treatment for genetic mitochondrial diseases. The randomized, single ascending dose trial (NCT03056209) was designed to investigate the pharmacokinetics (drug movement through the body), safety, and tolerability of KL1333.

Khondrion’s mitochondrial disease treatment candidate KH176 has potential to be effective in a broad range of disorders, a new study reports. The research, “KH176 Safeguards Mitochondrial Diseased Cells from Redox Stress-Induced Cell Death by Interacting with the Thioredoxin System/Peroxiredoxin Enzyme Machinery,“ was published in the journal…

The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…

The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…

People with mitochondrial disease typically can visit on average eight different doctors, and undergo multiple tests before finally getting an accurate diagnosis, a patients’ survey reports. The study  reporting its results, “The Mitochondrial Disease Patient’s Diagnostic Odyssey: Results of A Survey,” appeared in the journal Neurology Genetics and…

Investigational compound KL1333 was granted orphan drug status by the U.S. Food and Drug Administration for the treatment of inherited mitochondrial respiratory chain diseases, NeuroVive Pharmaceutical AB recently announced. The designation is a promising step for NueroVive’s KL1333 program because it will provide extra support from the FDA, including regulatory and…

At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…

Researchers found that a mutation in the USMG5 gene causes Leigh syndrome and deficient energy production in cells. This is the first evidence linking alterations in this gene to a human disease. The study, “A splice-site mutation in USMG5 causes Leigh Syndrome due to lack of ATP synthesis…

The antioxidants vitamin E and N-acetylcysteine (NAC) prolonged survival and protected against brain damage in models of mitochondrial disease, a study shows. The compounds will now be tested in clinical trials. Conducted by researchers at the Children’s Hospital of Philadelphia (CHOP), the study, “N-acetylcysteine and vitamin E rescue animal…