Expensive Gene Therapy Receives its First Patient in a Commercial Treatment

A patient with an extremely rare immune disease has been treated with commercial gene therapy for the first time, GlaxoSmithKline, the company behind the therapy, told MIT Technology Review on Tuesday. The treatment come almost a year after the therapy was approved for sale in Europe. Known as Strimvelis, the therapy treats a rare inherited immune deficiency by fixing a problem within the patient’s DNA. Gene therapy has been used extensively in clinical trials but has had a slow start commercially. This is only the second commercial use of gene therapy, the first of which was with a drug called Glybera in 2015.
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First Clear-cut Risk Genes for Tourette Disorder Revealed

Tourette disorder (also known as Tourette syndrome) afflicts as many as one person in a hundred worldwide with potentially disabling symptoms including involuntary motor and vocal tics. However, researchers have so far failed to determine the cause of the disorder, and treatments have only limited effectiveness, in part because the genetics underlying the disorder have remained largely a mystery. Now, as reported online May 3, 2017 in Neuron, a consortium of top researchers -- led by scientists at UC San Francisco, Rutgers University, Massachusetts General Hospital, the University of Florida, and Yale School of Medicine -- has made a significant advance, identifying the first "high-confidence" risk gene for Tourette disorder as well as three other probable risk genes. These findings are a step forward in understanding the biology of the disorder, the authors said, which will aid in the search for better treatments.
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GenSight Biologics’ Gene Therapy Candidate May Help Vision Loss in LHON Patients

An investigational gene therapy, GS010, is showing some promise in helping people who recently began to lose their vision due to Leber’s hereditary optic neuropathy (LHON), according to data from an ongoing clinical trial. A presentation of the data, “Intravitreal rAAV2/2-ND4 (GS010): A gene therapy for vision loss in Leber’s Hereditary Optic Neuropathy (LHON) caused by the G11778A ND4 mitochondrial mutation,” is set for April 25 at the 2017 annual meeting of the American Association of Neurology (AAN), taking place through April 28 in Boston. It will be given by José-Alain Sahel, MD, co-founder of GenSight Biologics, the developer of GS010. The Paris-based company’s lead product candidate, GS010, was designed to be the first gene replacement therapy targeting LHON, a rare inherited mitochondrial disease caused by ND4 mitochondrial gene mutation. Mainly affecting adolescents and young adults, LHON is characterized by irreversible vision loss due to a degeneration of retinal ganglion cells. In more severe cases, this disease can lead to blindness.
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Gene Therapy Trial Launched for X-linked Retinitis Pigmentosa

Researchers have injected their first patient with a virus engineered to remodel the gene responsible for X-linked retinitis pigmentosa (XLRP). “If successful, this gene therapy has the potential to transform the lives of many patients,” said David Fellows, chief executive officer, Nightstar, a gene therapy company in Oxford, according to an Oxford University press release. The injection took place as part of a multicenter open-label study designed to enrolat least 24 male patients in a 12-month trial of safety and tolerability. It is the first in the world to test a treatment for retinitis pigmentosa caused by the retinitis pigmentosa GTPase regulator (RPGR) gene, the press release said. One of the leading causes of blindness in young people, retinitis pigmentosa is currently untreatable and leads to a slow and irreversible loss of vision due to the loss of rods and cones.
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Gene Therapy Shows Promise in Treating Deadly Brain Disorders

A novel ‘gene-silencing’ drug could be the key to treating two devastating neurological disorders, spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS). SCA2 is an inherited disorder that inflicts damage on the brain’s cerebellum, causing patients to have issues with balance, coordination, walking and similar movements. ALS induces degeneration of nerve cells in the brain and spinal cord making patients gradually lose their ability to perform basic functions like move, speak, eat, or breathe. There are different factors that can initiate the onset of these diseases, but two new studies indicate the first signs of a possible treatment approach for both SCA2 and ALS.
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Novel Gene Therapy Experiment Offers Hope for People with Certain Hearing Loss and Dizziness Disorder

In a first-of-its-kind study published in the March 1, 2017 edition of Molecular Therapy, researchers from the National Institute on Deafness and Other Communication Disorders (NIDCD) and Johns Hopkins University School of Medicine showed that gene therapy was able to restore balance and hearing in genetically modified mice that mimic Usher Syndrome, a genetic condition in humans characterized by partial or total hearing loss, dizziness, and vision loss that worsens over time. The hearing loss and dizziness is caused by abnormalities of the inner ear. Dizziness and hearing loss are among the most common disabilities affecting humans and can be severe and debilitating. According to the National Health and Nutrition Examination Survey, more than 35% of U.S. adults aged 40 years and older have some degree of balance dysfunction, a major cause of falls in the elderly. According to the Centers for Disease Control, approximately one in three people in the United States between the ages of 65 and 74 has hearing loss, and nearly half of those older than 75 have difficulty hearing. Men are more likely to experience hearing loss than women.
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Inovio Pharmaceutical’s DNA Vaccine will be Tested in Patients with HIV

Inovio Pharmaceuticals in Plymouth Meeting is collaborating with the University of California San Francisco, which received a $6.95 million grant from the National Institutes of Health, to test the biotech company's DNA-based vaccine to reduce or prevent the HIV virus. Inovio's immunotherapy, Pennvax GP, will be tested in HIV-positive patients to see if it generates killer T cells in the body's immune system to attack the HIV virus. Current antiviral drugs work well against HIV, "but people have to take these drugs every day for decades," said Steven Deeks, the grant's principal investigator and professor of medicine at the University of California, San Francisco. For many people around the world the drugs "are just not feasible" due to side effects or costs, he said. "We're trying to find a way to enable the immune system to do what antiretroviral drugs do, which is to prevent the virus from replicating and spreading in the person."
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Testing the Efficacy of New Gene Therapies More Efficiently

Recently, a research team headed by Janine Reichenbach, a UZH professor and Co-Head of the Division of Immunology at the University Children's Hospital Zurich, has developed a new cellular model that enables to test the efficacy of new gene therapies much more efficiently. "We used Crispr/Cas9 technology to change a human cell line so that the blood cells show the genetic change typical of a specific form of Chronic Granulomatous Disease," explains the pediatrician and immunologist. In this way, the modified cells reflect the disease genetically and functionally. Until now, scientists had to rely on using patients' skin cells that they had reprogrammed into stem cells in the lab. This approach is laborious, and requires considerable time and money. "With our new testing system, this process is faster and cheaper, enabling us to develop new gene therapies for affected patients more efficiently," says Janine Reichenbach.
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AveXis SMA Gene Therapy Advances Toward Pivotal Trial

AveXis has posted top-line data from a phase 1 trial of its gene therapy against spinal muscular atrophy (SMA). All 15 patients were event-free at 13.6 months of age, a significant improvement over the natural history of the disease. The phase 1 gave three babies with the genetic muscle weakness disease a low dose of a gene therapy designed to provide them with a functioning SMN gene. A further 12 babies received the larger amount of the gene therapy AveXis sees as the proposed therapeutic dose. By the age of 13.6 months, none of the subjects had suffered an “event”, defined by AveXis as death or the need for medically prescribed respiratory assistance for 16 hours a day for two weeks. With natural history data suggesting 25% of babies with SMA would experience such an event by 13.6 months of age, the results have encouraged AveXis to push ahead with plans to start a pivotal trial of AVXS-101
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Scientists Discover Metabolic Pathway that Drives Tumor Growth in Aggressive Cancers

Mount Sinai researchers have discovered that a rheumatoid arthritis drug can block a metabolic pathway that occurs in tumors with a common cancer-causing gene mutation, offering a new possible therapy for aggressive cancers with few therapeutic options, according to a study to be published in Cancer Discovery. Ramon Parsons, MD, PhD, Ward-Coleman Chair in Cancer Research and Chair of the Department of Oncological Sciences at the Icahn School of Medicine at Mount Sinai, led a team that studied how a mutation of the PTEN gene rewires a metabolic pathway in tumors, channeling increased amounts of the amino acid glutamine into the pathway, speeding up DNA production, and causing uncontrolled growth of the tumor. The team discovered that leflunomide, an oral rheumatoid arthritis drug approved by the U.S. Food and Drug Administration, blocks an enzyme in this pathway and damages the DNA created through the pathway, killing PTEN mutant cancer cells while leaving healthy cells untouched.
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