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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Neuroscientists Pinpoint Key Gene Controlling Tumor Growth in Brain Cancers

Cedars-Sinai investigators have identified a stem cell-regulating gene that affects tumor growth in patients with brain cancer and can strongly influence survival rates of patients. The findings, published in the online edition of Scientific Reports, could move physicians closer to their goal of better predicting the prognosis of patients with brain tumors and developing more personalized treatments for them. To enhance understanding of how glioma cancer stem cells (GCSCs) reproduce and how they affect patient survival, investigators spent three years analyzing the genetic makeup of more than 4,000 brain tumors. During their investigation, they identified the gene, called ZEB1, that regulates tumor growth. The investigators' analysis suggests that brain cancer patients who don't have the gene tend to have lower survival rates.
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Gene Therapy Treats Sickle Cell Disease in Teenager Using Lentiviral Vector

Gene therapy that delivered an antisickling variant of hemoglobin in an autologous hematopoietic stem cell (HSC) transplant has ameliorated symptoms of severe sickle cell disease (SCD) in a 15-year-old boy, according to a report published in the March 2 issue of the New England Journal of Medicine. SCD results from a point mutation at amino acid position 6 in the beta globin gene that causes polymerization of the protein and sickling of the erythrocytes that contain it, under low-oxygen conditions, obstructing microcirculation and damaging organs. Hemoglobin A (HbA) is the normal subunit; HbS is the one altered by the sickle cell mutation
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Bluebird Bio Announces Publication of Case Study on First Patient with Severe Sickle Cell Disease Treated with Gene Therapy in The New England Journal of Medicine

Bluebird bio, Inc., a clinical-stage company committed to developing potentially transformative gene therapies for severe genetic diseases and T cell-based immunotherapies for cancer, today announced the publication in the New England Journal of Medicine of a case study on Patient 1204, the first patient with severe sickle cell disease (SCD) to be treated with gene therapy. This patient, who was 13 years old at the time of treatment, was treated with LentiGlobin drug product in the HGB-205 clinical study conducted in Necker Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France. The data in the publication reflect 15 months of follow-up, and a brief summary of this patient’s outcomes with 21 months of follow-up was presented at the 58th American Society of Hematology Annual Meeting in December 2016.
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