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RP Gene Therapy Clinical Trial Update from ARVO

Drs. Nicola Ghazi (left) and Doug Vollrath. I am always pleased to hear reports on human studies for retinal diseases. And such is the case with a research poster I just reviewed at the Association for Research in Vision and Ophthalmology (ARVO) annual meeting. It described a new clinical trial underway for a potentially life-changing gene therapy for people with autosomal recessive retinitis pigmentosa (MERTK mutations) taking place at King Khaled Eye Specialist Hospital in Saudi Arabia.

But before I report on that promising human study, I’d like to venture back in time and tell you how FFB funding of key research efforts made MERTK gene therapy possible. It’s also a story about the ubiquitous Royal College of Surgeons (RCS) rat — a rodent with a retinal degeneration that was, and continues to be, important to the study of retinal diseases.

In 1999, a Foundation-funded research team, which included Drs. Matt LaVail and Doug Vollrath, discovered that mutations in the gene MERTK caused retinal degeneration in the RCS rat. Subsequent Foundation-funded research revealed that MERTK mutations caused retinitis pigmentosa in humans. Dr. Vollrath, among other scientists, determined that MERTK played a critical role in the maintenance of photoreceptors, the cells that make vision possible.

Nearly 15 years later — with the disease culprit identified and extensive knowledge of how it causes vision loss made possible through additional FFB-funded research — a gene therapy for MERTK-linked retinitis pigmentosa is being evaluated in people. Six patients have been treated thus far, and they are doing relatively well.

While it is too early to make a definitive judgment about the treatment’s safety or efficacy, two patients have demonstrated some vision improvement, which is reason for cautious optimism.  While restoring vision would be great, even halting vision loss would be a good outcome. Time will ultimately reveal the treatment’s true potential.

While perusing the MERTK poster, I had the privilege of meeting Dr. Nicola Ghazi, an investigator on the clinical trial. I also got a chance to catch up with Dr. Vollrath. But most exciting for me was to see the two investigators meet for the first time. They were truly delighted to acknowledge one another for their contributions in advancing the MERTK research.

Well, I am off to more meetings, posters and presentations. At ARVO, you never know who you’ll run into and the great advances they’re making toward life-changing treatments and cures.

Pictured, above: Drs. Nicola Ghazi (left) and Doug Vollrath. 


31 Responses to 'RP Gene Therapy Clinical Trial Update from ARVO'

  1. Abdo Najy says:

    Good afternoon Dr. Rose,
    Thank you for the updates. I was wondering, have you seen anything for LCA caused by CRX mutation. My daughter was diagnosed with it and I am wondering if there is anything at the ARVO conference as far as research or clinical data on this form of LCA.

  2. luz says:

    hi, I luz,i will love to be one of the person that will participate in a study for retinitis pigmentosa before its too late for me, so count on e for any research. god bless you

    • EyeOnTheCure says:

      HI Luz,

      The Foundation will be launching a patient registry that can help people connect with researchers who are conducting clinical trials. It is too early to provide you with any details, but stay tuned to the Foundation’s Web site and Eye on the Cure blog for more information on the registry in the coming months.

  3. Abdo Najy says:

    Dr. Rose, thank you for all of your ARVO updates. I was wondering, did you see any working being done on CRX LCA?

  4. farhan ishraque fahim says:

    any treatment available for retinitis pigmentosa. 14 years of male child from Dhaka Bangladesh

  5. Frankie Ahmadi says:

    Hi,

    I was wondering if there is any treatment for Retinitis Pigmentosa for a 25 years old female. do you guys offer any experimental Stem Cell surgery or Gene Therapy for RP?
    My friend is suffering from RP for 2 years on both eyes and she just has center vision. She has made so many appointments with different doctors in UCLA such as Steven Schwartz, however no one seems to have an opinion about how to treat her eyes and they already told her that pretty soon she will lose her vision.

    What are the possible options to save her vision and probably treat her.

    Please reply back as it is very critical for me and her to find a solutions to get her eyes back, as at this point she is very disappointed and depressed.

    I will appreciate any suggestions from you guys.

    • EyeOnTheCure says:

      Frankie, thanks for your message. Your friend is on the right track to get in touch with a retinal specialist.

      We would recommend that she also visit http://www.ClinicalTrials.gov. We fund many clinical trials but do not operate the studies ourselves and so reaching out them directly may be the best way for her to find out more about where they are happening and if participating is an option.

      On http://www.ClinicalTrials.gov, which is maintained by the National Health Institute, you are able to search for Retinitis Pigmentosa clinical trials by searching based on your disease. Each clinical trial listing will tell you more about what the study is about and how you can contact them to see if they are recruiting and what the participant criteria may be.

      We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

  6. Ankit Jindal says:

    DR. Rose,
    Please suggest me any place where i could give myself for clinical trial, after spending worst 27 years, i am really frustrated, now i can take any risk… Thanks
    Ankit Jindal +91 099 71 82 1122 Viewswiss@gmail.com

    • EyeOnTheCure says:

      Ankit, thanks for your comment. We would recommend that you visit http://www.ClinicalTrials.gov. We fund many clinical trials but do not operate the studies ourselves and so reaching out them directly may be the best way for you to find out more about where they are happening and if participating is an option.

      On http://www.ClinicalTrials.gov, which is maintained by the National Health Institute, you are able to search for Stargardt clinical trials by searching based on your disease. Each clinical trial listing will tell you more about what the study is about and how you can contact them to see if they are recruiting and what the participant criteria may be.

      We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

  7. nadeem rao says:

    i am a rp patient in both eyes and my vision is going to weak.

  8. gern says:

    How can I sign up for clinical trials for RP

    • EyeOnTheCure says:

      Thanks for your comment. Are you interested in being a volunteer for a clinical trial study?

      If so, we would recommend that you visit http://www.ClinicalTrials.gov. We fund many clinical trials but do not operate the studies ourselves and so reaching out them directly may be the best way for you to find out more about where they are happening and if participating is an option.

      On twww.ClinicalTrials.gov, which is maintained by the National Health Institute, you are able to search for Stargardt clinical trials by searching based on your disease. Each clinical trial listing will tell you more about what the study is about and how you can contact them to see if they are recruiting and what the participant criteria may be.

      We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

  9. Marcie says:

    I have a 23 yr old son who has RP. My father is also blind from RP. How can I sign them up for clinical trials for RP. Thank you!

    • EyeOnTheCure says:

      Thanks for your comment Marcie. Are you interested in being a volunteer for a clinical trial study?

      If so, we would recommend that you visit http://www.ClinicalTrials.gov. We fund many clinical trials but do not operate the studies ourselves and so reaching out them directly may be the best way for you to find out more about where they are happening and if participating is an option.

      On twww.ClinicalTrials.gov, which is maintained by the National Health Institute, you are able to search for Stargardt clinical trials by searching based on your disease. Each clinical trial listing will tell you more about what the study is about and how you can contact them to see if they are recruiting and what the participant criteria may be.

      We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

  10. hanan raslan says:

    How can I registe in clinical teril please send tome

    • EyeOnTheCure says:

      Hanan, We would recommend that you visit http://www.ClinicalTrials.gov. We fund many clinical trials but do not operate the studies ourselves and so reaching out them directly may be the best way for you to find out more about where they are happening and if participating is an option.

      On twww.ClinicalTrials.gov, which is maintained by the National Health Institute, you are able to search for clinical trials by searching based on your disease. Each clinical trial listing will tell you more about what the study is about and how you can contact them to see if they are recruiting and what the participant criteria may be.

      We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

  11. Eric Beard says:

    Are there any US clinical trials for RP? My mother and uncle are both suffering from it. My mother has lost almost all vision in both eyes and has no ability to see in dim lighting.

    • EyeOnTheCure says:

      Eric, we would recommend that you visit http://www.ClinicalTrials.gov. We fund many clinical trials but do not operate the studies ourselves and so reaching out them directly may be the best way for you to find out more about where they are happening and if participating is an option.

      On twww.ClinicalTrials.gov, which is maintained by the National Health Institute, you are able to search for clinical trials by searching based on your disease. Each clinical trial listing will tell you more about what the study is about and how you can contact them to see if they are recruiting and what the participant criteria may be.

      We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

    • Sue says:

      Are there any US and China clinical trials for RP? My mother, Aunt and uncle are both suffering from it. My mother has lost almost all vision in both eyes and has no ability to see in dim lighting. We can take any risk for clinical trial. Could you tell me how to register it? My email address is chengshuhui@hotmail.com

      • EyeOnTheCure says:

        It may be useful for your affected family members to try and obtain a molecular diagnosis. Here is a web link to download an informative document on genetic testing: http://www.blindness.org/sites/default/files/genetic_testing_booklet_201311rev.pdf
        You should also ask your relatives to enroll in FFB’s “My Retina Tracker”, a free registry that can help identify clinical trials that are recruiting. For more information on “My Retina Tracker” please see the following web link: https://www.myretinatracker.org/
        The Foundation Fighting Blindness funds many clinical trials but does not manage the studies and so reaching out to them directly may be the best way for you to find out more about where they are happening and if participating is an option. The website: http://WWW.CLINICALTRIALS.GOV is maintained by the National Institutes of Health and 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.

  12. Latha says:

    I have a daughter with recessive RP. She had genetic screening at Moorfields Hospital and is reported as negative for RPE65. How can she test for eligibility to enter into your MERTK trial please advise

    • EyeOnTheCure says:

      You must first identify your daughter’s gene mutation. A molecular diagnosis is the most accurate diagnosis possible. With the genetic information you can check the medical databases to see what research is being done. Your daughter may also may be able to qualify for other 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
      You should consider enrolling your daughter in FFB’s “My Retina Tracker”, a free registry that can help you find out about clinical trials that are recruiting for your specific disease. For more information on “My Retina Tracker” please see the following web link: https://www.myretinatracker.org/
      It may also be helpful to periodically check the website: http://WWW.CLINICALTRIALS.GOV which is maintained by the National Institutes of Health and 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.

  13. shaikh khalil says:

    i am a rp patient in both eyes and my vision is going to weak.

  14. Ming Qi, PhD, FACMG says:

    Hi,

    Is there clinical trial on RP due to RLBP1 mutation? Many thanks,

    Ming

    • EyeOnTheCure says:

      Hi Ming, Recently there was a scientific paper published by Dr. Thadeus Dryja and his colleagues at Novartis, showing RLBP1 gene therapy to be effective at improving dark adaptation in the RLBP-1 knock out mouse. Here is the paper:
      Mol Ther Methods Clin Dev. 2015 Jul 8;2:15022. doi: 10.1038/mtm.2015.22. eCollection 2015.
      AAV-mediated RLBP1 gene therapy improves the rate of dark adaptation in Rlbp1 knockout mice.
      It is possible that a gene therapy may be on the way. Here is a web link to Dr. Dryja’s bio:
      https://en.wikipedia.org/wiki/Thaddeus_Dryja

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