Recent Scientific Advances
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The Foundation Fighting Blindness drives the research that will provide preventions, treatments, and cures for people affected by retinal degenerative diseases. Foundation-funded scientists are innovative leaders in the development of highly promising genetic, pharmaceutical, cell-based, and nutritional therapies. Cross-Cutting Advancements Landmark gene therapy restores vision in children and young adults More than 25 children and young adults who were virtually blind have had some vision restored thanks to an innovative gene therapy to cure a severe form of retinitis pigmentosa known as Leber congenital amaurosis (LCA). The individuals are participating in FFB-funded Phase I clinical trials of the treatment at The Children’s Hospital of Philadelphia and Moorfields Eye Hospital in London, as well as a study at the Universities of Pennsylvania and Florida. One nine-year-old boy has put away his white cane and can now see the blackboard at school. A young woman was able to see fireflies for the first time after receiving the treatment. Success in these studies paves the way for development of gene therapy to treat a variety of retinal degenerative diseases. The Foundation funded much of the preclinical research that made these clinical trials possible. Phase II/III clinical trials underway for Neurotech ECT Neurotech’s encapsulated cell technology (ECT) device is showing promise for slowing or halting vision loss for people affected by a variety of retinal degenerative diseases. The company recently reported that the device stabilized vision in people with dry age-related macular degeneration participating in a Phase II clinical trial. Phase II/III clinical trials of the treatment for retinitis pigmentosa, Usher syndrome and choroideremia are ongoing. Interim results for those studies have been encouraging. The ECT is a tiny device — six millimeters in length — that contains cells producing a vision-preserving protein called Ciliary Neurotrophic Factor. Neurotech has received fast track status for the treatment, providing a quicker route to FDA approval, if trial results continue to be favorable. FFB is funding two of the current Neurotech studies, and funded pivotal preclinical studies of the ECT. Transplanted cells restore vision in mice — key step for human treatment An international retinal research team funded in part by the Foundation Fighting Blindness has restored vision in mice with retinitis pigmentosa through the transplantation of developing photoreceptor cells. What’s most noteworthy about the study is that the transplanted cells became full-fledged retinal cells and integrated into the host retina. Foundation-funded researchers have also used cells from umbilical cord and neural tissue to restore vision in mouse models of retinal degenerative disease. Biopharmaceutical company launches clinical trial for dry AMD treatment Fenretinide, a drug being developed by Sirion Therapeutics, slowed the progression of dry age-related macular degeneration in a Phase II clinical trial. In an FFB-funded preclinical study, fenretinide showed promise as a treatment for Stargardt disease and potentially Best disease. The drug works by reducing the accumulation of vision-robbing toxins in the retina. Applied Genetic Technologies Corporation planning gene therapy clinical trials AGTC, a gene therapy development company near Gainesville, Florida, is planning clinical trials of gene therapy to treat a variety of retinal degenerative diseases including: age-related macular degeneration, Leber congenital amaurosis, retinoschisis, and achromatopsia. The company is using a gene delivery technology (adeno-associated viruses or AAVs) that was developed in-part by Foundation-funded researchers. Artificial retinas under development to restore vision Numerous researchers and private companies throughout the world are conducting human clinical trials to test the safety of implantable retinal prosthetic devices (artificial retinas). These microelectronic prostheses are restoring limited vision to patients who are blind due to retinal degenerative diseases. FFB funded earlier studies of these emerging technologies. Numerous disease-causing genes identified — critical for new therapies Geneticists have identified more than 140 genes with variations that result in retinal degenerative diseases. The identification of these genes is an important step in fully understanding why these diseases occur, and is also critical to the development of biopharmaceutical and gene therapies. Foundation researchers have contributed to this effort by identifying genetic variations causing several rare retinal diseases such as Bardet-Biedl syndrome, Leber congenital amaurosis and Usher syndrome. Retinitis Pigmentosa and Related Diseases Partnership with Genable takes aim at dominant retinitis pigmentosa FFB and the Irish biopharmaceutical company Genable have established a partnership to develop gene therapy for dominant forms of retinitis pigmentosa. The emerging treatment employs small interfering RNA (siRNA) to silence the defective genes that cause progressive vision loss in dominant RP. In addition to shutting down the disease-causing gene, a new, healthy gene is delivered to the retina. Genable plans to begin a clinical trial of the treatment in 2010. Dietary supplements slow vision loss Researchers funded by FFB report that dietary supplementation with vitamin A palmitate — in combination with the omega-3 fatty acid DHA (docosahexanoic acid) — appears to slow loss of vision in people with retinitis pigmentosa (RP). The combined therapy was found to primarily benefit people not previously taking vitamin A. For those people already taking vitamin A, a diet rich in omega-3 fatty acids was found to slow the decline in visual field sensitivity. Good sources of omega-3 fatty acids include: salmon, tuna, mackerel, sardines, and herring. For more information on dietary supplementation for RP, click here. Usher Syndrome Cell-based treatment preserves vision in an Usher syndrome animal model A research team funded by the Foundation Fighting Blindness has used cell transplantation to restore vision in a mouse model of Usher syndrome type 2A, a leading cause of combined deafness and blindness in humans. Never before has a cell-based treatment been used to save vision in an Usher syndrome study, in large part because no other Usher syndrome animal models have exhibited vision loss or retinal degeneration. The advancement is a critical step forward in developing a vision treatment for humans with the condition. Research collaboration advancing gene therapy for Usher 1B FFB-funded scientists from the University of Florida, University of Pennsylvania, and the University of California, Los Angeles are developing a gene therapy for Usher syndrome type 1B, a devastating disease that causes both vision and hearing loss. The investigators are planning to launch a clinical trial for the treatment in late 2010. Usher 1C mouse developed In another potential advance for treating Usher syndrome, FFB-funded researchers developed a mouse with a hearing disorder and a variation in the gene associated with Usher syndrome type 1C in humans. The mouse model is important for studying the cause of the disorder, thereby leading to development of effective treatments. Macular Degeneration Lucentis is effective in halting wet AMD Results from a large, two-year study showed that Lucentis™ halted vision loss in more than 90 percent of individuals with the wet form of age-related macular degeneration (AMD). In addition, Lucentis restored vision in 33 percent of those study participants. FFB has funded dozens of research projects to better understand the mechanisms that lead to vision-robbing blood vessel growth in wet AMD, giving companies like Genentech, maker of Lucentis, clear targets for the development of AMD treatments. Lucentis was approved by the FDA in June 2006. Scientists develop pivotal model for AMD Foundation-funded scientists from the Cleveland Clinic, Cole Eye Institute have created an animal model of age-related macular degeneration (AMD) that closely represents the vision-robbing disease in humans. This advancement gives biopharmaceutical companies a new and invaluable platform for the development of therapies that can stop the AMD process at an early stage, before any vision is lost. Genes linked to 74 percent of AMD cases FFB-funded researchers have linked variations in three genes to as many as 74 percent of all cases of age-related macular degeneration (AMD). The identification of these genetic variations is giving researchers targets for developing more effective treatments and demonstrates the role that genetics play in AMD. Stargardt Disease Partnership to accelerate development of therapy for Stargardt disease The National Neurovision Research Institute (NNRI), the clinical trial support organization of the Foundation Fighting Blindness, has partnered with Oxford BioMedica, a biopharmaceutical company in the United Kingdom, to develop a gene replacement therapy to treat Stargardt disease and other retinal degenerative diseases caused by a defective ABCA4 gene. A primary goal of the project, called StarGen™, is to initiate a Phase I clinical trial in 2010. Choroideremia Pre-clinical study of gene therapy for treatment of choroideremia FFB-funded investigators from the Imperial College School of Medicine in London are investigating gene therapies for the treatment of choroideremia, which is caused by a variation in the REP-1 gene. The group is evaluating the safety and efficacy of human-engineered viruses for delivery of a normal gene into mice. |
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