Leber congenital amaurosis – rpgrip1
Currently, there IS a treatment available for a different LCA gene (RPE65), but not for RPGRIP1.
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What Is rpgrip1-LCa6?
Leber Congenital Amaurosis (LCA), is a rare inherited eye disorder that affects the retina, and causes severe vision loss at birth. It is the most common cause of childhood blindness.
Recessive mutations in the RPGRIP1 gene cause Leber Congenital Amaurosis 6 (also known as LCA6). LCA is inherited in an autosomal recessive manner, meaning both parents carry a defective gene and have a 25% chance of passing it down to their children. RPGRIP1 is one of the 27 known genetic mutations that cause different types of LCA. The mutation in the RPGRIP1 gene accounts for approximately 5% of LCA cases. There are estimated 400-600 cases in the United States, and 20,000 worldwide. The RPGRIP1 protein is needed for the normal function of the photoreceptors (rods and cones) of the retina, and loss of this protein is what causes early-onset vision loss.
Symptoms can include: profound vision loss, involuntary eye movements (nystagmus), crossed eyes (strabismus), and sensitivity to light (photophobia). Patients are often completely blind from childhood, and due to the fact that this is a degenerative disease, vision will often continue to decline. There is currently no treatment for LCA6, but Odylia Therapeutics is working on a gene therapy that could treat vision loss caused by RPGRIP1 mutations. Read below to hear about their exciting program, how this could drastically affect the lives of RPGRIP1 patients, and how you can help!
Learn more about Luxturna, the FDA approved gene therapy treatment for RPE65:
Learn more about CRISPER Gene-Editing that is improving vision for some LCA patients:
hope is on the horizon
Odylia Therapeutics is an independent nonprofit organization working to bring lifesaving and life-altering treatments to those with rare diseases. Odylia is committed to developing a gene therapy to treat vision loss caused by RPGRIP1 mutations, for which there is currently no treatment. This gene therapy uses the novel Anc80 vector technology developed by Odylia co-founder, Luk Vandenberghe, and builds upon proof-of-concept data generated at Massachusetts Eye and Ear in the labs of Eric Pierce and Luk Vandenberghe. Odylia is currently conducting late-stage preclinical experiments and is preparing for IND submission for use of the gene therapy in clinical trials. To move this program through IND, Odylia is seeking partnerships or philanthropic funding for the estimated $3.9 to 4.3 million of development costs required to advance the program through toxicology studies and fund clinical manufacturing costs. As a non-profit, Odylia will work to lower costs, in order to reduce overall expenses.
In 2017, the FDA approved a gene therapy drug named Luxturna to treat another form of Leber Congenital Amaurosis caused by the RPE65 gene mutation. The success of Luxturna has proven to be life changing for many patients. It’s very exciting that with the efforts of Odylia, those affected with RPGRIP1 mutation could possibly have the same opportunity in the very near future. Please consider supporting this cause, and potentially giving someone the gift of sight.
how you can help
There is currently no treatment for LCA6. The disease is degenerative, so vision loss can further deteriorate with age. In order to advance the possibility of sight saving gene therapy, it is important to create awareness in our communities about rare inherited diseases such as Leber Congenital Amaurosis. Education is the first step, and taking action is the next step. The development of a gene therapy treatment could be monumental for those with LCA6 and RPGRIP1, but could also open the door for advancements in other rare genetic diseases. Successful treatment of one disease lowers the hurdles for other diseases. We are seeking donations to support the advancement of the Odylia Therapeutics RPGRIP1 Project that could drastically change the lives of many, including those you can get to know on the RPGRIP1 spotlight stories section here.