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ARVO Update: News on Gene Therapy Clinical Trials for RP and Choroideremia

Dr. Robert MacLaren

Dr. Robert MacLaren

I was very excited to learn here at ARVO that two early-stage gene therapy clinical trials – one for choroideremia taking place in the U.K., the other for autosomal recessive retinitis pigmentosa (arRP) caused by MERTK mutations underway in Saudi Arabia – are proceeding well thus far. It is important to keep in mind that safety is the primary focus in these Phase I studies.

Dr. Emad Abboud, from the King Khaled Eye Specialist Hospital in Riyadh, reported that three patients, all in their thirties, have been treated with the MERTK gene therapy. The treatment uses an adeno-associated virus 2 (AAV2) – similar to the AAV2 used in landmark vision-restoring gene therapy clinical trials for Leber congenital amaurosis – to deliver copies of the therapeutic gene to retinal pigment epithelial cells in the retina.

Thus far, the MERTK treatment has been safe in all three patients. The two patients who received the treatment in 2011 have reported that they are seeing better with their treated eye and can read more lines on an eye chart than they could before the treatment. One woman said, “I see with the operated eye many things in the kitchen that I couldn’t see before.” The third patient, treated in April 2012, has not had his vision tested since receiving the therapy.

This study is being performed in collaboration with Dr. Kang Zhang at the University of California, San Diego.

Dr. Robert MacLaren, who is conducting the choroideremia gene therapy clinical trial at Moorfields Eye Hospital in London and Oxford Eye Hospital in Oxford, said that six people have been treated thus far with no adverse effects. This therapy also uses an AAV2 to get copies of the healthy gene into the retinal cells.

Dr. MacLaren notes that all six patients entered the trial with relatively good vision, and the goal is to demonstrate that the treatment prevents vision loss. He estimates that it will take at least two years to determine if the patients’ treated retinas have less degeneration, and better vision, than their untreated retinas.

We need to keep in mind that these are very early results for just a handful of patients. Cautious optimism is in order. Not every treatment that enters a clinical trial will be a home run. But the progress is exciting, and we couldn’t have a better group of researchers on the front lines working to get these treatments out to the people who need them.

By the way, the Foundation funded critical lab studies that made both the choroideremia and MERTK gene therapy clinical trials possible.


34 Responses to 'ARVO Update: News on Gene Therapy Clinical Trials for RP and Choroideremia'

  1. Eugenia Poulos,MD says:

    Did I correctly underwtand that patients with autosomal recessive RP were treated?My husband has retinitis punctata albescens, which we have been told is autosomal, recessive. Please help. E T Poulos, MD

    • EyeOnTheCure says:

      Thanks for posting Eugenia. The recessive RP gene therapy in the clinical trial is for mutations in the gene MERTK. There are several genes which can cause autosomal recessive RP, but this treatment will work for only MERTK mutations. With that said, this study is opening the door to developing gene therapies for other forms of recessive RP and other retinal degenerations. And, there are other forms of gene therapy such as RdCVF and optogenetics that will work independent of the gene mutation.

      Retinitis punctata albescens has similarities to retinitis pigmentosa, including loss of rod cells, but technically, it is a little different from “typical” RP. With that said, many approaches for treating RP — stem cells, gene therapy, pharmaceuticals — may apply to retinitis punctata albescens.

  2. VERONICA FLORES says:

    HOLA MI HERMANO TIENE RETINITIS PIGMENTOSA ME GUSTARIA SABER MAS INFORMACION OJALA NOS PUDIERAN AYUDAR MUCHAS GRACIAS QUE DIOS LOS BENDIGA

  3. Christina O'Connell says:

    I am a 54 year old female with RP. I still have most of my vision and am still active and driving. I would be interested in attending any clinical trials out there that might help me keep my vision. I would love to hear from someone. Thank you.

    • EyeOnTheCure says:

      Hi Christina, thanks for your interest. If you are looking for clinical trials for the treatment of RP, visit http://www.clinicaltrials.gov. The NIH maintains a listing of all ongoing trials here. You are able to search through them by entering in your disease information. It is great to hear that you are active and doing well, we wish you all the best!

  4. Marta says:

    Iam 32 years oldI have an autosomal recessive rp. My vision is good but every day i see even worse.i am from poland and here nobody knows about treatment for rp. Give me a hope for healthy eyes for my whole life.i am interested in attending any clinical trials.

    • EyeOnTheCure says:

      Thanks for posting Marta, we understand what you and countless others are going through each day and we too are hopeful that the work being done will lead to much needed cures and treatments. In case you have not taken a look, we would like to direct you to the RP section on our website. This page offers all the most up to date information on RP (http://bit.ly/SKYi4L). This page can show you the latest research news on the subject of RP (http://goo.gl/OpfVl). If you are looking for particular clinical trials, we advise that you visit http://www.clinicaltrials.gov. This site maintains a list of all the clinical trials going on for RP and you can see them by searching for ‘retinitis pigmentosa’ on the site. If you have questions about them, contact information is available in each listing. Last but not least, if you have not visited our Facebook page, please do so at http://www.Facebook.com/FoundationFightingBlindness. We have a growing community of those who suffer from retinal degenerative diseases. This is a good place to share with and meet others who are going through similar experiences. We wish you all the best and hope this information helps you out.

  5. Tommy says:

    I am 30 years old from Indonesia. I have a RP since i was born but diagnosed 17 years ago. Mine comes with not only perifer but also central damage.I still can use my eyes to see but everyday i feel it getting worse. I am interested too in attending any clinical trial

  6. shaden says:

    Dear Sir
    I am from Saudi Arabia had sent earlier medical reports you
    I have two children girl the age of 4 years, and I’m two years old
    To have the disease in the cells of the retina of the cones
    Is there a cure?

  7. shaden says:

    Dear Sir
    I am from Saudi Arabia
    I am very happy for these good results
    Thank you and I wish you success and appreciate you for your service to all mankind

    I have two children have the disease, I hope to communicate with me
    wseem55@hotmail.com

    • EyeOnTheCure says:

      Shaden,

      I suggest you contact a retinal specialist at King Khaled Eye Specialist Hospital in Riyadh to gain a better understanding of your childrens’ retinal disease and which treatments may be appropriate for them. The contact there is: Fowzan S Alkuraya, MD, at +966 1 442 7875 or falkuraya@kfshrc.edu.sa.

      Dr. Jose Sahel in Paris, France, is working on a promising gene therapy called RdCVF for saving cones, but there are many other emerging options that may be suitable for your children, depending on their disease. The company MitoChem is developing a drug that shows promise for saving cones and rods.

      If you can tell us the diagnosis — for example, retinitis pigmentosa — we can tell you more about potential emerging treatments.

  8. Passed by your post and decided to share it on my blog so my followers can see it too. I used the same title, “ARVO Update: News on Gene Therapy Clinical Trials for RP and Choroideremia Eye on the Cure”

  9. Joel Garza says:

    HOLA MI ESPOSA TIENE 39 AÑOS TIENE RETINITIS PIGMENTOSA ME PUDIERAN AYUDAR.

  10. LEILA JAMALI KHAH says:

    Dear DR. MC.LAREN
    I am a thirty-year old woman from Iran, I am married, I have a 5 year old son and I am 8 months pregnant.
    When I was 9 years old, I got Stargardt’s disease and RP. It reached its highest degree when I was 18. And it has stayed still (no getting worse or better) since then. But now in my pregnancy period, I feel it is getting worse. I have 3 questions and I wonder if you can help me with them:
    1. Is there any research in this area carried out using stem cells? Of if there are any other ways developed to help this disease?
    2. If I come to you, can you help me to have it cured or something?
    3. Is it normal for this disease to get worse in the pregnancy?

    • EyeOnTheCure says:

      Hi Leila, thanks for your support and for leaving a comment,

      I think it is critical that you see a doctor who is familiar with inherited retinal diseases so that you can try and get an accurate diagnosis. I am not clear on exactly which disease you have – Stargardt disease or RP. I am not familiar with the medical community in Iran, so I can’t make any recommendations for a physician there. There are a number of well-qualified doctors in Europe, if you are able to travel there. Send us an e-mail at info@fightblindness.org and let us know where you are able to travel and we can make doctor recommendations for those countries.

      There are a number of promising therapies in development, including stem cells, but it is important for you to get an accurate diagnosis.

      In regards to your second question, there are no cures available yet, but many potential therapies are either in clinical trials or moving toward human studies. As mentioned, I think it is important for you to get an accurate diagnosis. There are excellent doctors in the UK, France, Germany, and the Netherlands. Let us know by e-mail where you can travel, and we can make a recommendation of physicians(s).

      And in regards to your third question, Is it normal for this disease to get worse in the pregnancy?, We do sometimes hear of retinal diseases getting worse during pregnancy. They are progressive conditions, so they inevitably get worse over time. Sometimes they get worse for no apparent/specific reason.

  11. Mattie Sanchez says:

    I am 26 years old and am also suffering with ritinitis pigmentosa. Where can I get more information about possibly participating in clinical trials? Thank you so much!

  12. Tony Uptain says:

    I am a 39 year old with choroideremia. My vision has significantly decreased in the last 10 years and my night vision is very poor. I live in Alabama, are there any gene studies or stem cell studies I can participate in?

    • EyeOnTheCure says:

      Tony, the current gene therapy clinical trial for people with choroideremia is taking place in the United Kingdom. Dr. Jean Bennett, of Children’s Hospital of Philadelphia and the University of Pennsylvania, is planning to launch a gene therapy clinical trial for people with choroideremia sometime in the next year or so. That will likely occur in the Philadelphia area. Stay tuned to the Foundation’s Web site for further information about her forthcoming study.

  13. Thomas Moses says:

    Dear Dr. Maclaren,

    My son has Choroideremia. He is 12 years old and we live in Texas. We go back to Dr. Lewis in Houston this month for his yearly follow up. I am very interested in a cure for my son Zach’s eyesight. I have read many of your articles and pray every night for God to perform a miracle and let Zach keep his vision. I believe you are the answer we have been praying for. Keep us in mind!
    May God Bless You,
    Thomas

  14. Rajesh Parakh says:

    i am from india and am suf
    fering from recessive retinitis pigmentosa. I am 45 years old. my vision is just light perception. Will gene therapy help in restoring my eyesight?

    • EyeOnTheCure says:

      Rajesh, thanks for your comment. The hope is that one day gene therapy will become a successful treatment for Retinitis Pigmentosa. Though it’s a very promising area of research, gene therapy is still being studied in clinical trials to test its effectiveness and safety on humans. Please stay tuned to our research as we learn more and support further clinical trials.

  15. Solomon David says:

    Hello Dr. Mclaren
    I am a 59 yr old male from india. I have been suffering from retinitis pigmentosa since my age of 25. I have lost the vision in my right eye and left with just 10 percent centre vision in my left eye.
    I would be keen to volunteer for any clinical trials that you my have for RP.
    Thanking you in anticipation.

    Solomon David

    • Eye on the Cure says:

      Solomon, 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 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.

      On http://www.ClinicalTrials.gov, which is maintained by the National Health Institute, you are able to search for RP 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.

  16. Ankit says:

    I am suffering from retinitis pigmentosa, after 27 years of frustrated life i want to give myself for any clinical trial to cure this disease, , stemcell or gene therapy.. Only i know what i am losing every second, I’m not more than a breathing deadbody

    • EyeOnTheCure says:

      Ankit, 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.

  17. amit srivastava says:

    Hello Dr. Mclaren
    I am a 40 yr old male from india. I have been suffering from retinitis pigmentosa since my age of 25. I have lost the vision in my right eye and left with just 20 percent centre vision in my left eye.
    I would be keen to volunteer for any clinical trials that you my have for RP.
    Thanking you in anticipation.
    AMIT KUMAR
    CONTACT NO :9454721860

    • EyeOnTheCure says:

      Amit, 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.

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