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So far, gene therapy is the area of research and treatment to have yielded the most promising results. In 2018, the FDA approved the first ever gene therapy called LUXTURNA which is a prescription gene therapy product used for the treatment of patients with inherited retinal disease due to mutations in both copies of the RPE65 gene. This is a great step for all inherited retinal diseases and we hold hope that it will translate to all forms of LCA, including RDH12.
As a group, we have funded some amazing scientists to start the process of a clinical trial for RDH12. Currently, we are involved on a history study at the University of Pennsylvania with Dr. Tomas Aleman, MD.
We are also working with Dr Jean Bennet, MD, PhD at the University of Pennsylvania to start the other needed steps to a genetic clinical trail and each day we feel closer to a cure.
Pharmacological treatment is a therapeutic option under scientific investigation. This involves the use of drugs to slow down the degenerative process. In some cases drugs can even improve sight and would certainly mean many more years of functional vision for LCA patients. Experiments on animal models of these diseases have shown promising results. Currently, a three year study is being funded by The RDH12 Fund for Sight and A Candle in The Dark at the Moorefield Eye Hospital in the UK to find this sort of medical treatment. Find out more about the three year study, and other research projects which could lead to a cure for blindness below.
Ocular Cell Transplantation
Ocular cell transplantation is another area of research. As retinal photoreceptor cells are impaired in the majority of inherited retinal diseases, the idea is to replace them by cell grafts from a healthy donor eye. Research is in its very early stages, with only partial success in animal models, but there certainly is a potential to develop this approach into a proper treatment.
Stem Cell Therapy
Stem cell therapy is also promising. Stem cells are found in embryonic tissue, and have the theoretical potential to develop into any kind of body cell. The basic idea in the case of LCA is that stem cells could be used to help replace existing dead photoreceptor cells or even restore the entire retina in case of advanced degeneration, thus restoring sight. However the mechanism by which the stem cells can be transformed into a fully functional retinal cell such as photoreceptor cells, still needs to be fully understood. Hence, there is still a long way to go before this approach can be developed into a clinically applicable treatment option.
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Groups we are currently working with: