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Update on Six Gene Therapy Clinical Trials Presented at VISIONS 2013

Dr Shannon BoyeWhether you’re a researcher or affected by a retinal disease, hearing the latest news from the clinical-trial front lines is a great perk of FFB’s annual conference. On the last day of VISIONS 2013, I had the privilege of moderating a compelling update on six gene-therapy clinical trials provided by Shannon Boye, Ph.D., a gene therapy developer at the University of Florida, and Michel Michaelides, M.D., a clinician-researcher at Moorfields Eye Hospital in the United Kingdom. All of these emerging treatments, given in recaps below, were made possible by Foundation funding.

Leber congenital amaurosis (LCA)

Dr. Boye reported that the landmark gene therapy clinical trial for people with LCA (RPE65 mutations) at the Children’s Hospital of Philadelphia (CHOP) has progressed from Phase I/II to Phase III. This moves the therapy a step closer to market approval from the U.S. Food and Drug Administration.

In collaboration with the University of Iowa, the investigators will treat people with better vision than those in the Phase I/II study, as well as children as young as 3. Children as young as 8 were treated in the Phase I/II study.

Also, the patients will receive injections to both eyes over a week’s time. In Phase I/II, second eyes were treated several months after the first eyes.

Sixteen people will receive the therapy in Phase III, and eight will receive a placebo injection. By comparing the treatment group with controls, scientists will get a better sense of how the treatment is affecting the eye. People receiving the placebo will be given the treatment a year later.

Choroideremia

Six patients have received gene therapy for choroideremia in a Phase I/II clinical trial at the John Radcliffe Hospital, Oxford University, in the United Kingdom. Thus far, there have been no reported adverse events and some suggestions of mild increases in retinal sensitivity. The researchers recently began to treat additional patients.

Dr. Michaelides noted that a foot pump was used to carefully control the potentially damaging pressure caused by the therapeutic liquid injected underneath the fovea, the central region of the retina that’s critical to vision and made fragile by disease.

Jean Bennett, M.D., Ph.D., of CHOP, and Ian MacDonald, M.D., of the University of Alberta in Edmonton, are planning to launch their own human studies of gene therapy for choroideremia in the near future. Stay tuned for updates on their efforts.

Stargardt disease

Oxford BioMedica’s Phase I/II clinical trial of its StarGen™ gene therapy is ongoing at Oregon Health & Science University (OHSU) in Portland, Oregon, and the Centre National d’Ophtalmologie des Quinze-Vingts in Paris, France. Twelve people have received the treatment with no safety issues. Dr. Michaelides said that the researchers are progressively increasing the dosage and treating patients with better vision.

Autosomal recessive retinitis pigmentosa (arRP)

As I reported in May, from the annual meeting of the Association for Research in Vision and Ophthalmology, the Phase I clinical study of gene therapy for arRP (MERTK mutations) is proceeding well. In her update, Dr. Boye said that participants in the study have not experienced any adverse events, and some have shown improvements in vision. While the trial is still at an early stage, the news is encouraging.

Usher syndrome type 1B

Also underway at OHSU, and soon at the Centre National d’Ophtalmologie des Quinze-Vingts, is Oxford BioMedica’s clinical trial of gene therapy for Usher syndrome type 1B (USH1B). Known as UshStat™, the treatment has been safe thus far in four patients.

Dr. Boye explained that the defective gene in USH1B affects the movement of critical proteins between the inner and outer segments of photoreceptors, which are connected by a very narrow “one-lane highway.” UshStat will hopefully unclog the traffic so the photoreceptors can function normally. She added that the treatment is also delivered to a supportive layer of retinal cells known as the retinal pigment epithelium to bolster the movement of pigments that are important for retinal health and vision.

Wet age-related macular degeneration (AMD)

While there are three effective treatments for wet AMD — all of which inhibit the growth of leaky, vision-robbing blood vessels — they have to be injected into the eye on a regular basis (often monthly) for the life of the patient.

However, as Dr. Michaelides explained, three different companies — Oxford BioMedica, Avalanche Biotech and Genzyme — are developing gene therapies that work similarly to the existing treatments, but are designed to require only a single injection to stop blood vessel growth for several years. While still early, none of the studies have reported any adverse events thus far.

A final fact

More than 150 people have received retinal gene therapies in these studies.

Pictured, above: Dr. Shannon Boye


61 Responses to 'Update on Six Gene Therapy Clinical Trials Presented at VISIONS 2013'

  1. Trevor Ribeiro says:

    Usher syndrome type 1B – As mention that the research on USHSTAT – all mention is about the photoreceptors, but what about the hearing loss … is there any improvment in the hearing ……. please reply..

    Regards

    Trevor

  2. maria elena says:

    mis hijos de 14, 10 y 3 años padecen de Amaurosis congenita de leber, por favor escribanme para decirme que es lo que podemos hacer y como, muchas gracias.
    Maria Elena

  3. Sachin says:

    Good hoping.news

  4. Alma Diane Caldwell says:

    I,am very interested in any clinical Trials concerning Retinitis Pigmentosa. My vision is getting progressively worse. I,am legally blind in both eyes.I would like to volunteer for a clinical trial for stem cell research. Thank you

    • EyeOnTheCure says:

      Hi Alma, thanks for your comment. We would recommend at this time that you visit http://www.ClinicalTrials.gov . On this site, you can search by your disease for clinical trials that you may have the opportunity to be involved in. Each listing will provide more information and some contact resources to learn more.

  5. JONPAUL PORTER says:

    I live in Pittsburgh, PA area and have RP. I am 31 and would like to be in a study nearby, if possible.

    I am adopted so my family is not affected.

    THANKS.

  6. Dawn Bartolone says:

    I also have RP and was diagnosed whenI was 52. It has progressively gotten worse every year. I would also be interested in participating in clinical trials. My blood was sent to the gene institute 4 years ago with hopes of finding out the particular gene that caused RP for me but I still haven’t heard anything back.

    • EyeOnTheCure says:

      HI Dawn,

      Thanks for your comment. We would recommend that you visit http://www.ClinicalTrials.gov.

      On this website, 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 or further information if needed at info@fightblindness.org

  7. Hanifa Vasta says:

    Hi, I have 3 sons with R.P please help!! I prey theirs a CURE for them!

  8. Fernando & Alida Nieves says:

    God bless all medical researchers and doctors involved in finding a cure for all eye/vision related diseases. Our beautiful daughter has retinitis pigmentosa… she is only 10 years old. WE NEED A CURE… SHE, ALONG WITH MILLIONS OF ADULTS AND CHILDREN SUFFERING FROM THE SAME ILLNESS, DESERVES A CURE… Our daughter is so full of life… she dreams of being a singer one day – getting up on stage and singing in front of millions – she also wants to be an actress… she is wonderful, the best thing that has ever happened to my wife and I.

    KEEP UP THE GOOD WORK! WE ARE ALL PRAYING FOR YOU! NEVER LOSE HOPE! GOD IS WITH US!!!

  9. Richard Palelis says:

    I have Stargartz please advised of any clinical Trials in my area I live in Florida

    • EyeOnTheCure says:

      Richard,

      While there are both gene therapy and stem cell clinical trials underway for people with Stargardt disease, there are none in Florida at the moment.

      Stay tuned to the blog and the Foundation’s Web site, http://www.fightblindness.org, for news on forthcoming clinical trials. While you are on the Web site, you can register for our electronic newsletter, which provides news on research advances and clinical trials.

  10. Andrew says:

    Thanks to those foundations who are funding such trials, we can have better cure for unwanted diseases such as this retinal disease.

  11. please help me find a cure for my brother Berty, who is currently 30 years old and has 40% of his eye sight gone. We are looking for a cure pleaseee i dont know what to do. we need to improve his eye sights any way possible.

    • EyeOnTheCure says:

      Thanks for commenting. I’m happy to provide more information and try and find out what options are available to you and your family. Can you provide more information on what condition your brother has?

  12. Julie Miller says:

    I am 40 with Stargardts disease with excellent vision to date, would love to be involved in any clinical trials.

  13. Anthony Purpura says:

    Is any research being done on LCA where the muted gene is the CRX gene? When success is found for one gene will it have a positive effect and speed up the possibilities of finding cures for other muted genes? Thank you for your dedication.

    • jblasco says:

      Hi Anthony,

      Dr. Shiming Chen at Washington University in St. Louis is doing CRX-related research. I don’t have a recent update on her progress. Yes, progress in therapy for development of one form of LCA will benefit the development of other LCA therapies. As you may know, gene therapy for LCA caused by RPE65 mutations has worked well in humans – it has restored vision in clinical trial participants. While we don’t know the progress being made for a CRX therapy, we can say that some therapies for LCA will be easier to develop than others. You can try contacting Dr. Chen at Chen@vision.wustl.edu to see if she has more information.

  14. Anthony Purpura says:

    Is any research being conducted on the CRX gene?

  15. bartosz wróbel says:

    Hello,
    my sister is 8 years old, she was diagnosed with leber’s congenitive amaurosis. she has only 5% of eye sight. she had the genetical research made but no known gene responsible for the disease was found. What can we do now?

    • EyeOnTheCure says:

      Bartosz, thanks for telling us a bit about youa nd your family.

      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: http://goo.gl/IXhMX.

      We often also report out on new news on the research being done for this disease. Please see our blog articles on LCA here (http://goo.gl/GdLlse ), and be sure to check out our ‘other disease’ section on our website, where we often report on LCA research progress (http://goo.gl/Cby99 ). 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 info@fightblindness.org.

      You are certainly not alone in this. If you are interested in finding other people going through the same situation or you would like to get involved in fundraising, visit our chapter pages at http://www.fightblindness.org/chapters or get involved with a VisionWalk event at http://www.VisionWalk.org.

  16. Jihad hawa says:

    I have two boys with LCA and gene crb1 and hoping for a cure and when will the gene crb1 will be next for leber congenital amaurosis ?

    • jblasco says:

      Hi Jihad,

      The Foundation is funding a collaboration between the University of California, Berkeley, and a Netherlands research group to develop a CRB1 gene therapy. The work is still at an early stage and not yet ready for a human study, but they are working toward that goal.

      We will report on their progress as it is made. Stay tuned.

  17. Max Hartwig says:

    Hoping that a cure will come along soon for my wife’s cone-rod dystrophy…. Seems like there’s not much going on with research into this. There’s rarely any news on it.

  18. Please help me I am 23. Next week and have been diagnosed with this horrid disease. I no longer drive play football everything has been tracked away from me that I loved and lived for. No help where I come from in Dundee Scotland. I would be available for Ny trials research anything . Please help me. Robbie robertson.

    • EyeOnTheCure says:

      Robbie, thanks for reaching out to us. We are very sorry to hear about your struggles in living with your disease.

      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.

    • Karen Ruggiero says:

      My son has Leber’s ( since 12 ). He is now 43 and very successful. Bascom-Palmer Hospital in Florida is doing research on LHON—-specifically Dr.Lam. He has always answered my questions and I always make donations for continued research. You can call me if you like—215-342-2793.

  19. Sorry I didn’t say I have lebers hereditary optic neuropathy was diagnosed on the 17th September. I have been having test nearly all year to fin gout what I had and now we know. Please can anyone help or send me advice where any trials or drugs or treatments. I don’t smoke I am fit and healthy. Robbie robertson.

  20. shaden says:

    Dear Sirs,

    I have children the age of 6 years and 3 years
    They have a disease of the retina
    gene GUCY2D Is there a the treatment? Please help

    wseem55@hotmail.com

    • Eye on the Cure says:

      Hi Shaden,

      A treatment is currently in development. Check out this article for more information. (Link defunct.)

  21. Venky says:

    Dear All,

    Don’t be disheartened at any time,. God is always with you,.
    Treatment will come on its own time,.

    Things go well with vision,.
    Things go perfectly well with mind-vision,.

    Go ahead in life with positively ,.

    :-)
    Venky

  22. Pat says:

    My fiancee has had stargardts disease since around 4th grade. I am eager for any type of clinical trial like StarGen. Please email me if anybody can help.

    • Eye on the Cure says:

      Pat, 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.

  23. Maggie says:

    My hermano fue recientemente diagnosticado con el sindrome d eusher tipo II. Quisiera saber donde puedo conseguir mas informacion y ayuda para tratamientos o trials disponibles. Gracias

  24. Kelley Stanley says:

    We have a seven year old son recently diagnosed with rod cone dystrophy. Is there any research going on with children for this disease?

    • EyeOnTheCure says:

      Hi Kelley,

      We presume you mean cone-rod dystrophy, and the short answer is yes – there is a lot of research that may benefit someone with cone-rod, including gene therapies, stem cell treatments and drugs. It may be helpful at some point to have your child genetically screened to try and determine which gene mutation is causing his vision loss. That information will help you understand which emerging treatments may be of the most benefit. We suggest that you visit our Web site and download or genetic testing information to learn more about the process. You can also call us at 1-800-683-5555 for more information.

  25. Judy smith says:

    I have amd , it’s getting worse are there any things that may help. I see a dr. At The university of Virginia And he claims there is nothing out there that is “Ready for prime time “”. I have been researching stem cells and Gene therapy. And hoping something will be available for me soon. Please advise, thank you so much. I would like to add, that I am in very good health except for my AMd. I am suspecting that it is genetic because I never had any bad health habits like smoking drinking etc.. Your response, any response would be a blessing for me.

    • Eye on the Cure says:

      Thank you for your comment, Judy. We often share the latest in AMD news on our website and here on the blog.

      There are a few places on our website that will provide some useful information on AMD, starting with our backgrounder section on this eye condition: http://goo.gl/nJ04y

      We often report on new research advancements and so we encourage you to check out our AMD news articles section as well: http://goo.gl/zlCw2

      We hope you find this information helpful. Please let us know if there is anything else we can help you with.

  26. Kristen Daniels says:

    My 17 year old has STARGARDTS. Can you give me some hope?

    Mom

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  29. Namit Sehgal says:

    I am 33 and gradually over the years, one of my eyes are getting worse with Stargardt disease.

    I work in IT so need to spend many hours on Laptop.

    Please guide me how can I participate in these tests?

    • EyeOnTheCure says:

      There are currently eight clinical trials that are actively recruiting patients affected by Stargardt disease. To obtain information on any of these trials, please see the following link to the Clinical Trials.Gov website: https://clinicaltrials.gov/ct2/results?term=stargardt&recr=Open&no_unk=Y

      The Foundation Fighting Blindness is partnering with Sanofi to conduct a gene therapy clinical trial for Stargardt disease in Oregon and Paris, France. For more information on this trial, see the following link:
      http://clinicaltrials.gov/ct2/show/NCT01367444?term=stargardt&recr=Open&no_unk=Y&rank=2

      To learn more about the progression of Stargardt disease, The Foundation Fighting Blindness is also conducting a natural history study, referred to as PROSTAR. For more information on PROGSTAR, please see the following link: http://progstar.org/

      You may be interested to know that there is a “Stargardt – Macular Degeneration” Facebook page where you can communicate with other families affeced by Stargardt disease. Here is the link:
      https://www.facebook.com/groups/Stargardts/

      I hope you find this information helpful. Please feel free to contact me if you have any other questions or concerns.

      Thank you for your support that is enabling the development of new treatments for degenerative retinal disease.

  30. sunil says:

    my brother has RP,plz tell me for upcoming treatment

    • EyeOnTheCure says:

      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.

  31. My husband is a strong healthy 53 year old who is quickly losing his vision because of Star gardts disease. He is anxious to participate in any research treatment study. We reside in N.H. Please help. Thank you, Sharon Kurowski.

  32. Hearing positive news on gene therapy update of lca makes me feel very happy&satisfied . Mobile no 9426337652

  33. Egearly waiting for treatment of lca for my daughter (Avi soni 11yrs old)

  34. Robin Lee says:

    I am 52 years old and have been diagnosed with Cone Dystrophy. Would appreciate any information on clinical trials, etc. My 75 year old father has it as well. Thanks

  35. Matt Miller says:

    Clinical research in Ophthalmology is truly one of the most demanded fields of study in the industry. It is exciting to see that we have come so far in this field to conduct gene therapy to correct issues with vision/blindness.

  36. Linda Krause says:

    My son is twenty-eight and has been diagnosed with rod cone dystrophy. Are there any clinical trials, either gene therapy or other, that you are aware of in the United States?

    Thank you for your reply.

    • EyeOnTheCure says:

      Rod cone dystrophy is another name for retinal diseases that affect the rods first. Retinitis pigmentosa is an example of a rod-cone dystrophy. Your son 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 (http://www.ncbi.nlm.nih.gov/pubmed/) can be searched to identify any research that is being conducted. With a molecular diagnosis, he 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/

      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.

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