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Choroideremia Gene Therapy Improves Vision in Human Study

Dr. Robert MacLaren, lead investigator in the gene therapy trial.The development of retinal-disease gene therapies took a monumental step forward on January 16 with a report in The Lancet that researchers were able to improve vision in five of six people with choroideremia participating in a clinical trial.

Patients in the University of Oxford study in the United Kingdom were delighted with the results. One gentleman saw stars in the sky for the first time in many years. Another was able to see soccer matches more clearly on television.

I was very excited to see dozens of online and print media from around world — including The Wall Street Journal — cover the outstanding results of the cutting-edge research. We, at the Foundation, also posted an in-depth article on the trial on our website.

The photo below shows Robert MacLaren, M.D., the surgeon and lead investigator for the study, performing the delicate procedure of injecting the gene therapy under the patient’s retina.

In the operating room, Dr. MacLaren injects the gene therapy into a patient's eye

The fact that this treatment has performed safely and effectively thus far is not only great news for people with choroideremia, it affirms that gene therapy is a highly promising approach for saving and restoring vision in those with a broad range of retinal diseases. Keep in mind that we still don’t know how well this and other gene therapies will slow the progress of retinal degeneration in the long term — we need more data over several years to make that determination.

But at this juncture, retinal gene therapies have built a nice track record, and the knowledge gained from the choroideremia study boosts the prospects for success of human studies underway for retinitis pigmentosa (RP), Leber congenital amaurosis, Stargardt disease, Usher syndrome, and age-related macular degeneration. The results also bode well for the many retinal gene therapy clinical trials scheduled to launch in the coming few years.

An important aspect of the choroideremia treatment is that it’s one of the first gene therapies to target photoreceptors, the cells that make vision possible and are often affected in RP and other prevalent retinal conditions. Most other current clinical trials involve treatment of the retinal pigment epithelium, a supportive layer of cells adjacent to photoreceptors.

The success of the study validates painstaking lab work performed by Foundation-funded scientists worldwide. The path to the University of Oxford choroideremia trial was by no means a cakewalk. It took 20 years to get there. Much of the innovative work was performed by Miguel Seabra, Ph.D., who received more than $1.5 million from the Foundation for his efforts.

So what did it take to reach the clinical trial? The first step was to find the gene, which, when mutated, causes the disease. CHM was identified as the culprit in 1993. Then there was the work to understand why defects in the gene cause vision loss. Next was the development of a choroideremia mouse model, which was particularly tricky with this disease, because knocking out the CHM proved fatal.

Subsequently, the gene therapy was developed and tested in cleverly engineered mice — i.e., mice with choroideremia that lived! — to demonstrate that it was safe and saved vision. Finally, toxicology and safety tests were performed to gain regulatory authorization for human studies.

Two other choroideremia gene therapy clinical trials are scheduled to begin in 2014. Ian MacDonald, M.D., will soon launch a study at the University of Alberta in Edmonton, Canada. Jean Bennett, M.D., Ph.D. — who recently advanced her LCA gene therapy trial into Phase III at the Children’s Hospital of Philadelphia and the University of Iowa — is hoping to begin her choroideremia human study this summer.

For patients, families and researchers, fighting blindness remains a long and challenging journey. There’s no rest for the weary. So, for those actively involved in our cause, I hope you will take a moment to celebrate this victory. At the end of the day, this win was not possible with the sustained support of the Foundation’s family.

Pictured, above: Dr. Robert MacLaren, lead investigator for the study. Pictures courtesy of University of Oxford.

 


17 Responses to 'Choroideremia Gene Therapy Improves Vision in Human Study'

  1. Andy Hampson says:

    Congratulations on your wonderful efforts and success!!

    I have RP and live in Sydney, Australia and am very grateful for your research and live In hope that some day we will all be able to see clearer.

    Again thank you and keep going – I wish you the very best of luck x

  2. Connie Parrish says:

    Could you please let me know if there is any research being done to correct retinal detachment from laser surgery to keep retina from detached .My Grandson is now 14 has the surgery at 3 mts old. one retinal was burnt and detached from the surgery. He is complexly blind in left eye. right eye has low vision cataracts in both eyes with band keratopathy in both eyes . His glasses are 20/12.50 corrected to 20 /60 to 20/100 at times . Several instances where vision has went complete blind lasting several minutes. Has not happened for a while. . He has told me his vision gets dark and can’t see much at times.

    • Eye on the Cure says:

      Connie, thank you for your message. Unfortunately, we can only speak about research for retinal degenerative diseases that affect the retina in the eye. Your doctors and other eye specialists will be best suited to answer your questions about what treatments are available for your grandson’s condition.

      You may want to visit the website of the National Eye Institute (http://www.nei.nih.gov/) or reach out to someone at the institute – they may be able to point you in the correct direction on other resources or organizations who specialize in his condition.

      We wish you all the best as you try to find out more.

  3. Babette bernardino says:

    My son carlo has a case of rp. We are from d philippines. This is awesome development. We are hoping that soon, there will be a cure. God be wd u!

  4. antoinette stafrace says:

    I would like to know if this gene therapy can be applied to patients with RDS

    • EyeOnTheCure says:

      Hi Antoinette,

      Early lab studies of gene therapy for people with RP caused by mutations in RDS were not successful , though that doesn’t mean the approach won’t work for RDS mutations in the long run. Also, there are a variety of other emerging Foundation-funded treatment approaches that may benefit people with RDS mutations, including stem cells (e.g., retinal patch, ReNeuron) and pharmaceuticals.

  5. Jim Blankenship says:

    I have cone-rod dystrophy and this sounds like something that my help my vision. Would like to be part of a clinical trial.

    • Eye on the Cure says:

      Thanks for your comment, Jim.

      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 cone-rod dystrophy 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. Miloslav Danihel says:

    Congratulations on your wonderful efforts and success!!

    I have RP and live in Košice, Slovakia and am very grateful for your research and live In hope that some day we will all be able to see clearer.

  7. Exciting News!

    I started the international Choroideremia support group almost 20 years ago, and I have to say, these are exciting times!

    Would love to understand what kind of timeline those of us afflicted can base our expectation on for being able to pursue treatment either domestically or abroad.

    Sincerely,

    Jason McKinney

    • maria saven says:

      Please contact me with any info on choroideremia…my family is hurting! I am willing to give up my life ….to help my brother & son! Willing to travel to be a participant for any trial!

      • EyeOnTheCure says:

        Maria,

        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.

  8. hanan raslan says:

    Hi , I am egyptian my husband has rp since 15 years are there any tretment for his case l don’t know which type of rp are there any methed to know the type of rp please send to me

    Thank you for all information and effort

  9. am 64 years old ,have diabetes 2 for about 15 years now..am blind in my right eye ,do have vision in my left eye .but am very concern ..!! i dread going blind ..this has destroyed my life .i need help soon ..can anyone “”please” if possible ??.am willing to participate in “”experimental test and procedures””..my life will end if i go blind !..please help .

    • EyeOnTheCure says:

      Fernando.

      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. Kay Mariner says:

    I have just read the article concerning gene therapy trial for chorioderemia. I have a 20 yr old son who was diagnoised with this eye disease when he was 10. This is heartwarming news!! We live in Sydney, Australia and to think that we may have hope for a brighter future for my son is overwhelming. It has been a long road to get to this point but a cure is now a reality. My heart goes out all those scientists and researchers passionate who work tirelessly to achieve these kinds of advancements. You are truly inspirational!!

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