By Estel Grace Masangkay The U.S. Food and Drug Administration has granted Orphan Drug Status to Edison Pharmaceuticals vatiquinone for the treatment of rare disease Leigh syndrome. EPI-743 is an orally bioavailable small molecule that belongs to the para-benzoquinone class of drugs. The World Health Organization has assigned vatiquinone as its International Nonproprietary Name to identify its active pharmacological ingredient (API). The drug optimizes metabolic control and acts at the mitochondria to control electron transport among other mechanisms of action. EPI-743 is undergoing Phase IIB/III development for the treatment of Leigh Syndrome. A randomized, double blind, placebo controlled trial in pediatric patients has completed enrollment in the U.S., while a Phase IIB/III trial is in progress in Japan in collaboration with Dainippon Sumitomo Pharma. Leigh syndrome is an inherited, deadly, progressive neuromuscular disease that predominantly affects children. It is the leading pediatric inherited mitochondrial disease, characterized by death of the central nervous system regions that control breathing and other neurologic functions. There have been no approved treatments for Leigh syndrome since its initial description in 1951. Orphan status is granted to drugs being developed for the treatment of rare and serious orphan diseases, for which they have shown potential. The … Continue reading →

Released: 6/12/2014 11:40 AM EDT Source Newsroom: Mayo Clinic Contact Information Available for logged-in reporters only Newswise ROCHESTER, Minn. Recent modifications in recommendations regarding incidental findings (IFs) in genetic testing from the American College of Medical Genetics and Genomics (ACMG) depart from the colleges 2013 recommendations in favor of an individualized approach. Experts in the Bioethics Program of the Mayo Clinic Center for Individualized Medicine published a review of the updated 2014 recommendations in the journal Proceedings. The feedback from ACMG members indicated that the 2013 recommendations did not accommodate diverse patient needs, says Jennifer McCormick, Ph.D., M.P.P., who authored the review. The 2013 recommendations embraced an all-or-nothing philosophy, which advised patients who did not want to be informed of some, or all, IFs to forgo whole exome or whole genome sequencing (WES/WGS), according to the review. In addition, the college originally instructed that laboratories actively search and notify patients of pathogenic variants in genes, which raised controversy regarding patient rights. With the 2014 recommendations, patients have more autonomy to customize their WES/WGS results based on their comfort level with knowledge, other than the original reason to seek genetic testing, says Dr. McCormick. "This is an important discussion, and the … Continue reading →

Sarasota, FL (PRWEB) June 12, 2014 Nebulized Pure PRP may offer COPD sufferers a less expensive and an effective alternative to stem cell therapy. When normal injury occurs, platelets are stimulated to release growth factors, cytokines and other immune system components in what is called the inflammatory phase of healing. In the lungs, platelets can adhere to injured or inflamed endothelial cells where they start the healing process. It is believed that by increasing the number of platelets in the lungs through this method, it is possible to decrease inflammation and accelerate the healing process in the lungs. Platelets are vehicles for the delivery of growth factors (PDGF, TGF-, IGF, EGF, VEGF) that induce proliferation of fibroblasts, osteoblasts and endothelial cells, promoting and accelerating healing of hard and soft tissues. Autologous Platelet Rich Plasma also contains fibrin, fibronectin and vitronectin that act as cell adhesion molecules for lung epithelial migration. Autologous Platelet Rich Plasma treatment has been evaluated in various medical disciplines including orthopaedics, wound healing, neurosurgery, dentistry as well as cosmetic, plastic and cardiothoracic surgery. Nebulized Pure PRP treatment holds much promise and is being researched for its applications. This new medical advance can bring effective and affordable healthcare … Continue reading →