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Update from LCA Gene Therapy Clinical Trial in Pennsylvania and Florida

Stock image of lab technician working with test tubesOne of the first lessons I learned in my career was that research study results often raise as many questions as they answer. Such is the case with new results from the gene therapy clinical trial for children and young adults with Leber congenital amaurosis (LCA, RPE65 mutations) at the Universities of Pennsylvania and Florida.

In the Proceedings of the National Academy of Sciences, the investigators report sustained vision improvement of three years, thus far, in the treated eyes of participants. However, they also note that retinal degeneration, the loss of photoreceptors, continued in the treated eyes at a rate that was similar to untreated eyes.

Before I elaborate on the questions these results raise, it is important to be clear on what we do know from the LCA gene therapy human studies underway.

First, the Pennsylvania-Florida team has treated 15 patients, providing vision improvements without any serious adverse events. Establishing safety is the primary goal of this Phase I/II study, and, thus far, the team has done that.

Second, patients in the other gene therapy clinical trials for LCA, including the study at the Children’s Hospital of Philadelphia (CHOP), have also experienced vision improvements without serious adverse events. CHOP has also reported good results in the treatment of some patients’ second eyes. More than 40 people have been treated in six LCA gene therapy clinical trials.

The most important and immediate question is: Are the other LCA (RPE65) gene therapy clinical trials also observing loss of photoreceptors in the treated eyes of their patients? Their teams haven’t formally reported information on rates of degeneration, but I’m currently investigating this to learn what they do know at this juncture. If they aren’t seeing loss of photoreceptors, then we need to figure out why there are differences in retinal degeneration in treated eyes among the different studies.

If investigators at the other trials are observing continued retinal degeneration, it may mean that we need a more advanced form of gene therapy, to ensure that all of a patient’s photoreceptors are treated. Such a therapy might do a better job of slowing or stopping degeneration and preserving vision over a longer period of time.

Or, we may have to combine gene therapy with a drug or supplement that can stave off degeneration. These recent study results may also underscore the benefit of treating a patient early, before the degenerative process has time to gain momentum and becomes more difficult to stop.

I am very interested to see what will be observed in the early-stage gene therapy clinical trials underway for other retinal diseases. Thus far, we only have preliminary safety reports, so we’ll need to wait and see how these therapies impact both vision and retinal degeneration.

One of the big challenges in fighting blindness is the diversity of retinal degenerative diseases, and the likelihood that one approach to gene therapy will not work for all conditions. But the good news is that the retinal research community isn’t putting all of its eggs in one gene therapy basket.

As current gene therapy clinical trials move forward, and more are launched in the next two to three years, we’re going to learn a lot more about which approaches work well and which need refinement. I look forward to reporting additional information on these gene therapy studies as I get it.

20 Responses to 'Update from LCA Gene Therapy Clinical Trial in Pennsylvania and Florida'

  1. Irv Arons says:

    For additional information on this same subject, you might want to read Ricki Lewis’ writeup from her DNA Science Blog “Another Bump in the Road to Gene Therapy?”. (Link:

    Ricki is the author of “The Forever Fix: Gene Therapy and the Boy Who Saved It”.

  2. I am 66, and have been a patient of Elliot Berson, who banked my blood for research. I started expressing RP at the age of 42, and the opinion is that I am autosomal recessive. I am interested in any clinical trial, as my situation may be somewhat atypical, and may benefit from your study.

  3. I have a daughter 11yrs old with lca is there any treatment for lca? My mobile +919426337652 idar gujarat india

    • EyeOnTheCure says:

      Narayan, thanks for your comment. Currently, there is no treatment for LCA that has been deemed safe and approved for use, however much research is being done to find treatments.

      We have some information on our website about LCA here:

      We often also report out on new news on the research being done for this disease. Please see our blog articles on LCA here (, and be sure to check out our ‘other disease’ section on our website, where we often report on LCA research progress ( We hope you find this information helpful, and if there is anything else we can provide or if you have additional questions, please email us at

    • If possible treatment available for my daughter,please let me know my mobile no =+919426337652

      • Eye on the Cure says:

        Narayan, thanks for your comment. Currently, there is no treatment for LCA that has been deemed safe and approved for use, however much research is being done to find treatments.

  4. Gianne Fecunda from Curacao, The Netherlands Antilles says:

    I have a 14 years old daughter with LCA. Would like to know what I have to do for my daughter to do the Gene Therapy. Please help.

  5. says:

    Very good post. I will be experiencing a few of
    these issues as well..

  6. Amrit Raj Pageni says:

    As per the testing conducted at shankar Netralya, india the summary report is as below.

    Summary of the Genetic testing done

    Mr./Ms. Samrat Pageni, MRD No. 2593878, G.No. G-198a/12 (SNONGC Department of Genetics and Molecular Biology reference number) diagnosed to have Leber’s congenital amaurosis (LCA) was recruited under the DBT funded research project titled “Molecular diagnostics of LCA- A chip based re-sequencing approach.”
    Under this study, targeted re-sequencing was performed using HaloPlex target enrichment assay and sequence by synthesis on a Illumina MiSeq NGS platform. This was followed by validation by Sanger sequencing using ABI3100 Avant Genetic Analyzer.
    This approach led to the identification of homozygous pathogenic (disease causing) mutation, ENST00000369846; g.80203350G>A; c.838C>T; p.Arg280Ter in the LCA5 gene. The mutation segregated in the family members enrolled in the study. The parents were heterozygous carriers for the mutation ENST00000369846; g.80203350G>A; c.838C>T; p.Arg280Ter.
    We thank the patient and the family members for participating in the research study.

    If there is any idea/suggestion for the treatment please suggest on

  7. Debbie Harris says:

    I have a son age 31 and a daughter age 25 with retina degeneration . I would like to get them in the clinica trial in gene therapy.Thay both have night blindness can’t see going in to dim lights and back to bright.Daughter sitll holds a job. Seeing the retina health center in Winter Haven Fl for testing

  8. Hoping for a treatment of lca very soon

  9. khiyani says:

    My daughter and my son have lca5 if any gene therophy work my kids plz contact me.

  10. Houd From Oman says:

    I have three sons 10, 6, and 1 year old with LCA. Would like to know what I have to do for my sons to do the Gene Therapy. Please help if you can make a study and treatment.

    • EyeOnTheCure says:

      I am sorry to hear about your sons that are affected by LCA. LCA is caused by mutations in one of twelve different genes. Currently there are gene therapy clinical trials for two of these, RPE-65 and LRAT. You should consider genetic testing to try and identify the mutant gene responsible for causing your son’s LCA. If the gene is identified, medical databases such as PubMed can be searched to identify any research and/or clinical trials that are being conducted. With a molecular diagnosis, your sons may qualify for one of the gene therapy trials that are taking place. For information on genetic testing, please see the following web link to download a PDF document:

      Whether the disease gene is identified or not, you should still consider enrolling your sons 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:

      Keep checking the FFB website frequently for any possible new information and it may also be helpful to periodically check the website: http://WWW.CLINICALTRIALS.GOV which is maintained by the National Institutes of Health. Clinical Trials.Gov 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. I hope you found this information useful and thank you for your support.

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