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Gene Therapy Strengthens the Retina’s Connection to the Brain

diagram of brain affected by LCA therapyWhile we often think of the retina as that magical piece of tissue lining the back of the eye that makes vision possible, the brain is also an essential partner in the visual process. When light comes into the eye and is converted to electrical signals, those signals are sent through the optic nerve to the back of the brain, where they are transformed into the images we see. When children are born, pathways between the retina and the brain are in place, and, with increased interaction with the world, they become stronger over time.

However, if a child is born with severe vision loss from a retinal disease like Leber congenital amaurosis (LCA), these pathways don’t develop normally due to lack of retinal input. They also further deteriorate as the retina degenerates.

Since we see with our eyes and the brain, researchers have wondered what happens to the brain when the eye can’t see. More interestingly, what happens to the brain when the eye is enabled to see through gene therapy? Would the brain and eye restart their partnership? Would this handshaking happen for humans of all ages? Would the brain be able to harness the visual-processing pathways later in life?

Thanks to Manzar Ashtari, Ph.D., who is leading groundbreaking, brain-imaging studies at the University of Pennsylvania and The Children’s Hospital of Philadelphia (CHOP), we now know the answer is yes. Published in the journal Science Translational Medicine, and funded in part by the Foundation Fighting Blindness, her research shows that retina-brain pathways can be established in LCA patients not only after decades of near blindness, but that they are strengthened with use after the retina has been treated.

This is exciting news, because researchers were concerned that the brain’s plasticity—its ability to develop and respond to the new input from the retina—would be lost. The study shows that the brain has the capacity to adapt to retinas with improved function thanks to gene therapy. This not only bodes well for people with LCA; it is good news for others who might receive gene therapy later in life for an early-onset retinal disease.

Dr. Ashtari used advanced magnetic resonance imaging techniques that examine the deeper brain layers to observe that eyes treated with gene therapy had a stronger connection to the brain than untreated eyes. She is continuing her comprehensive imaging studies to better understand the brain structure and function of the LCA patients before and after treatment.

Meanwhile, the Phase III LCA gene-therapy clinical trial at CHOP and the University of Iowa is moving full steam ahead with children as young as 3 receiving the treatment. Also, all patients in the trial are having both eyes treated. If all continues to go well, the trial’s sponsor, Spark Therapeutics, could seek approval for the gene therapy from the U.S. Food and Drug Administration in less than two years.

Pictured, above: a diagram illustrating the effects of retinal gene therapy on the brain of an LCA patient, courtesy of Dr. Manzar Ashtari.


16 Responses to 'Gene Therapy Strengthens the Retina’s Connection to the Brain'

  1. Diane says:

    I would like to know if my 17 daughter can get help she lca please help …

    • EyeOnTheCure says:

      Your daughter should consider genetic testing to try and identify the mutant gene responsible for causing the disease. If the gene is identified, medical databases such as PubMed can be searched to identify any research that is being conducted. With a molecular diagnosis, one may also qualify for gene therapy trials that are taking place. For information on genetic testing, please see the following web link to download a PDF document:
      http://www.blindness.org/sites/default/files/genetic_testing_booklet_201311rev.pdf

      Whether the disease gene is identified or not, one should still consider participating in FFB’s “My Retina Tracker”, a free registry that monitors clinical trials that are recruiting for various retinal diseases. For more information on “My Retina Tracker” please see the following web link:
      https://www.myretinatracker.org/

  2. Hannes de Beer says:

    To every one involve, thank you this is great news. From Port Elizabeth South Africa

  3. amrinder singh says:

    hi iam amrinder from india iam also suffring from lca please tell me what should i do please help

    • EyeOnTheCure says:

      You should consider genetic testing to try and identify the mutant gene responsible for causing the disease. If the gene is identified, medical databases such as PubMed can be searched to identify any research that is being conducted. With a molecular diagnosis, one may also qualify for gene therapy trials that are taking place. For information on genetic testing, please see the following web link to download a PDF document:
      http://www.blindness.org/sites/default/files/genetic_testing_booklet_201311rev.pdf

      Whether the disease gene is identified or not, one should still consider participating in FFB’s “My Retina Tracker”, a free registry that monitors clinical trials that are recruiting for various retinal diseases. For more information on “My Retina Tracker” please see the following web link:
      https://www.myretinatracker.org/

  4. Aiman abueida says:

    My son 12 years old was born with LCA and we found out it was in the family. We appreciate your support and hard research on the treatment. We appreciate if you would keep us posted on the progress of the treatments

  5. Julie Fernow says:

    Can this be used for Bartell beetle syndrome, soon? Katie is now 18, her vision is slipping, we live in Minnesota, so we could commute to Iowa. Please keep us in mind. Julie

  6. Carol Boteler says:

    Wonderful news. My grandson has Stargarts disease. New hope for him.

  7. Bela Mecs PhD says:

    Could a similar gene therapy discussed in this article help the millions of sufferers who have impaired vision due to glaucoma?

    • EyeOnTheCure says:

      Several genes have been identified that are associated with glaucoma. It is possible that one day there will be a gene therapy treatment for glaucoma as well.

  8. Mary St. Pierre says:

    Our grandson, Creed, was unable to get through the rigorous testing to get into the trial in Iowa. We pray daily that the opportunity will return. I often get frustrated that the FDA after all these years does not step up to the plate and approve a treatment that does not fail. Thanks to everyone who continues the drive to bring physical sight to the blind.

  9. Irfan Yousuf says:

    Hi. Indeed very positive news n we expect it to reach to clinical. My son 6 yrs old recently diagnosed as LCA in moorfields eye hospital n followed by some genetic test. Can v take some assistance or guidance frm above development. I m very much intrested. Plz let me know further. TIA.

    • Rich Pero says:

      Just found out today my son might be in same boat. I am beside myself to learn this. His genetic test came back positive. Obviously getting another test but it doesn’t look good. LCA is terrible and is it true only 100 people in country have it. So far everything I’ve read is aweful. My son is also six. Worst news I have ever gotten in my life. I am also interested and would like to know more?

      • EyeOnTheCure says:

        LCA can be caused by mutations in any one of twelve different genes. Now that your son has a molecular diagnosis, he may be able to qualify for one or more of the gene therapy trials that are taking place. If his mutation is in the RPE-65 gene, he may be able to participate in this ongoing human gene therapy trial. For information on the RPE-65 trial, please see the following link: http://www.blindness.org/clinical-trials/gene-therapy-leber-congenital-amaurosis-rpe65-mutations-university. A pharmaceutical clinical trial is also being conducted to evaluate the safety and efficacy of a drug that might help patients with LCA caused by mutations in either RPE-65 or LRAT. For more information, please see the following link: http://www.blindness.org/foundation-news/qlts-drug-rp-and-lca-improves-vision-11-patients

        You should also consider enrolling your son in FFB’s “My Retina Tracker”, a free registry that monitors clinical trials that are recruiting for various retinal diseases. For more information on “My Retina Tracker” please see the following web link:
        https://www.myretinatracker.org/

        Periodically, it might also be useful to view the http://WWW.CLINICALTRIALS.GOV website, maintained by the National Institutes of Health. The Clinicaltrials.gov website contains a searchable list of clinical trials for most known diseases. Each clinical trial listing will provide you with information on what the study is about, the requirements for participating and contact information.

  10. Allyse Marcus says:

    This sounds amazing! My fiancé is 24 and has LCA. We would love to find something to help him. I love him so much and want him to have the best life he possibly can. Think about us in Michigan if you can!

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