A rose will bloom, it then will fade. Alas, not so for those afflicted with Hutchison-Gilford Progeria Syndrome (HGPS). Their lives skip the blooming stage. Within a few months of birth their growth is stunted and they begin to show the hallmarks of ageing. Their skin loses its elasticity and their hair falls out. As teenagers they resemble tiny, gnomish octogenarians, with prominent eyes, pinched noses, receding jaws and veins protruding through thin transparent skin. The average age of death is 13 usually from a heart attack or stroke. Cardiologist John Cooke is trying to help those with the disease by at least slowing the ageing and stiffening of their blood vessels. His approach involves rejuvenating this tissue by delivering transient gene therapy using messenger RNA for a gene called telomerase. Since messenger RNA does not hang around, the technique avoids the pitfalls of gene therapy, like inadvertently triggering cancer. The results of his research, published this week in the Journal of the American College of Cardiology, show the successful rejuvenation of cells in the test tube from youngsters with HGPS. It brings tears to my eyes to see these kids but despite the fact theyre trapped in the body … Continue reading →

LONDON (Reuters) - GlaxoSmithKline is swimming against the tide by getting out of treatments for rare diseases at a time when rivals like Sanofi and Shire see the field as a rich seam for profits. Successful medicines for rare conditions are potentially very lucrative, since prices frequently run into hundreds of thousands of dollars, but patient numbers can be extremely low. New GSK Chief Executive Emma Walmsley announced the strategic review and potential divestment of rare diseases on Wednesday as part of a wide-ranging drive to streamline pharmaceutical operations. It follows a less than impressive experience for GSK in the field, including the fact that its pioneering gene therapy Strimvelis only secured its first commercial patient in March, 10 months after it was approved for sale in Europe in May 2016. Since then a second patient has also been treated and two more are lined up to receive the therapy commercially, a spokesman said. Strimvelis, which GSK developed with Italian scientists, is designed for a tiny number of children with ADA Severe Combined Immune Deficiency (ADA-SCID). SCID is sometimes known as "bubble baby" disease, since those born with it have immune systems so weak they must live in germ-free environments. … Continue reading →

Pharmaceutical firm uniQure N.V. has developed an optimized large-scale process to manufacture its lead gene, therapydate, to treat hemophilia B. This new platform will allow the Dutch company to boost production of its AMT-060 gene therapy at its Lexington, Massachusetts, facility, in accordance with Good Manufacturing Practices guidelines. This should enable uniQure to meet the requirements of both the U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMA) by early fall, the companys CEO, Matt Kapusta, said in a press release. We have made significant progress over the past several months to now be in a position where we have developed a commercial-scale process and are evaluating our completed batches to assess comparability, Kapusta said. We look forward to finalizing this work in anticipation of meetings with regulators to further discuss plans to advance our hemophilia B program into a pivotal study next year. AMT-060 gene therapy is based on a viral vector to deliver a therapeutic form of human factor IX gene, or FIX. This potential therapy is currently being evaluated in a Phase 1/2 trial (NCT02396342) in patients with severe hemophilia B and advanced joint disease. The trials most recent long-term resultsshow that AMT-060 is … Continue reading →

There is new hope for human patients with Duchenne muscular dystrophy. Results released in the journal Nature Communications describe a promising gene therapy performed on dogs. Twelve Golden Labrador dogs were subjected to a breakthrough gene therapy technology and, after two years, the dogs are healthy and appears to be illness-free. Researchers are optimistic about the implication of this study on humans. Duchenne muscular dystrophy (or DMD) is a hereditary condition characterized by muscle weaknesses and muscle degeneration. Among nine types of muscular dystrophy, DMD is the most severe and life-threatening. Dystrophin protein is vital for muscles to function properly and the absence of this protein makes muscles fragile and easily damaged. At early stages, DMD will affect muscles in the shoulder, upper arms, thighs and hips that are vital to movement and balance. Patients experience muscle weaknesses by age 4 and then start losing the ability to walk by age 12. Later on, DMD will weaken the heart and respiratory muscles. For DMD cases, the average life expectancy is 26 years, with only a few patients living beyond 40. Duchenne muscular dystrophy was named after French neurologist Guillaume Benjamin Amand Duchenne who described the illness in the 1860s. It … Continue reading →