About 20,000 people in the U.S. live with hemophilia A. It’s a rare X-linked genetic disorder that affects predominantly males and causes their blood to clot poorly when healing wounds. For some, routine daily activities can turn into painful medical emergencies to stop internal bleeding, all because of changes in a single gene that disables
The first tests on eight children show favorable preliminary results, with an adjustment of motor and cognitive skills and improvements in some brain and joint parameters Gene therapy takes steps forward in the fight against rare diseases. Eight children with severe Hurler’s syndrome, a disease associated with reduced life expectancy, benefited from this therapy. The
In the last issue of Blood, Boulos et al analyze the cost-effectiveness of factor IX gene therapy in patients with severe hemophilia B, in a microsimulation Markov model. Hemophilia is an X-linked disease that affects 400000 people worldwide, of whom 15% have hemophilia B caused by deficiency of factor IX (FIX), which affected the offspring of Queen Victoria,
Treatment with SP-101, an investigational gene therapy that Spirovant Sciences is developing for people with cystic fibrosis (CF) who are unable to benefit from current treatments, effectively increased CFTR gene activity in a ferret model of the disease, the company reported. Katherine Excoffon, PhD, Spirovant’s vice president of research, presented the data at the 2021 North American Cystic Fibrosis Conference (NACFC). Her
The National Institutes of Health, U.S. Food and Drug Administration, 10 pharmaceutical companies and five non-profit organizations have partnered to accelerate development of gene therapies for the 30 million Americans who suffer from a rare disease. While there are approximately 7,000 rare diseases, only two heritable diseases currently have FDA-approved gene therapies. The newly launched Bespoke
After numerous setbacks at the turn of the century, gene therapy is treating diseases ranging from neuromuscular disorders to cancer to blindness. The success is often qualified, however. Some of these therapies have proved effective at alleviating disease but come with a high price tag and other accessibility issues: Even when people know that a
The new therapy was generally well-tolerated and prevented key signs of the condition in animal models. Scientists at the UNC School of Medicine have reported in the journal JCI Insight encouraging early tests of a gene therapy strategy against Angelman syndrome, a neurodevelopmental disorder that features poor muscle control and balance, hard-to-treat epilepsy, and intellectual disabilities. Angelman
St. Jude Children’s Research Hospital provides the first gene therapy manufacturing and distribution cost report for hemophilia B. A St. Jude Children’s Research Hospital analysis found a major gap between the cost to manufacture and distribute hemophilia B gene therapy and the $2 million-plus price reportedly under consideration for hemophilia gene therapy now in development. The study appeared
Study shows treatment developed by international team restored immune function in more than 95% of patients in three clinical trials An experimental form of gene therapy developed by a team of researchers from UCLA and Great Ormond Street Hospital in London has successfully treated 48 of 50 children born with a rare and deadly inherited
Key Takeaways A single injection of a gene therapy involving what are called zinc fingers dramatically reduced levels of tau, a protein implicated in Alzheimer’s disease, in mice with the condition. The treatment was long lasting, caused no side effects, and reduced Alzheimer’s-related damage in the brain. The technology worked just the way we had
