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First Patient Treated in XLRP Gene Therapy Clinical Trial

The surgical team prepares to inject the virus into the back of the eye of the patient A 29-year-old British man is the first person to be treated in a gene therapy clinical trial for X-linked retinitis pigmentosa (XLRP). Robert MacLaren, MD, the lead investigator for the trial taking place at the Oxford Eye Hospital in the United Kingdom, says the patient is doing well and has gone home. The trial is being run by Nightstar, a biopharmaceutical company in the U.K. developing therapies for inherited retinal diseases. As many as 24 patients will be enrolled in the 12-month trial.


XLRP is a leading cause of inherited, progressive vision loss. The condition usually affects males, but is also diagnosed occasionally in females. Mutations in the gene RPGR cause about 70 percent of XLRP cases. RPGR mutations affect about 15,000 people in the United States and tens of thousands more around the world.

The Nightstar gene therapy involves injection of healthy copies of RPGR underneath the retina. The RPGR copies are contained in a human-engineered virus — known as an adeno-associated virus or AAV — which is designed to readily penetrate retinal cells to deliver the therapeutic genetic cargo. While the current clinical trial is focused on evaluating safety, researchers hope that a single injection of the XLRP gene therapy will slow or halt vision loss for several years.

Dr. MacLaren says the treatment was challenging to develop, because even the therapeutic copies of RPGR are prone to mutations. “The natural RPGR gene sequence is very difficult to read and reproduce,” he says. “But the new DNA sequence we are using has proven to be very stable in our laboratory studies. Dr. Dominik Fischer and other members of my team in Oxford spent many years working out how to develop a safe and effective gene therapy by manipulating the DNA sequence, but without changing the protein.”

“We are delighted to see a gene therapy for XLRP move into a human trial. This is great news for many of our constituents,” says Stephen Rose, PhD, chief research officer, Foundation Fighting Blindness. “While most forms of RP lead to significant vision loss, XLRP tends to be on the severe end of the RP spectrum. We desperately need treatments to halt this challenging disease and look forward to learning more about this therapy’s potential as the trial progresses,” Rose says.

Nightstar is also running a gene therapy clinical trial for choroideremia, an inherited retinal disease that causes severe vision loss in males. The company reported that the choroideremia gene therapy has provided vision improvements, sustained for 3.5 years, in five of the first six patients treated. Dr. MacLaren is also the lead investigator in that study.


122 Responses to 'First Patient Treated in XLRP Gene Therapy Clinical Trial'

  1. cj gehring says:

    My Stargardts disease-Macular Degeneration support group is so hoping that gene therapy will be the cure for Stargardts as well!

  2. Alieu Kamara says:

    Wow! This is great news. I hope there’s a research somewhere for my condition. Genetic testing shows that I have RPGRIP1 Gene. I would appreciate if the foundation could email me if any upcoming clinical trial
    Thanks

  3. Prashanth says:

    I am suffering from rp.what is the cure for this disease

    • Dr. Tim Schoen says:

      Dear Prashanth,

      You should consider genetic testing to try and identify the mutant gene responsible for causing your RP. 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 genetic diagnosis, you may qualify for one of the gene therapy trials currently 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/pages/pdfs/Genetic-Testing-Booklet-V5.2-20151023.pdf

      You should also 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/

      Finally, you may find it 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.

    • jacob says:

      It is good to see that there are more researchers involved in the search for a permanent solution.

    • My friend is suffering from the same thing….She is looking also for a chance of having at least half of her sight again. Is there new method or cure chat just came out, in research.
      I am in my fourthies live alone went to Risha twice for a cure, they put needle in my eyes, couldn’t go for a third treatment cause lack of money.

      She is french and there is no info in french at all…… can you help? please contact me at the name and adress below.

  4. Rohith says:

    When it will come to india

  5. HOSA says:

    I was diagnosed with RP when I was 20, I am now 40 years old.
    How can one sign up to be part of this gene therapy?

    • Dr. Tim Schoen says:

      Dear Hosa,

      In order to be considered for any gene therapy trial, you must first have a genetic diagnosis. For information on genetic testing, please see the following web link to download a PDF document:
      http://www.blindness.org/sites/default/files/pages/pdfs/Genetic-Testing-Booklet-V5.2-20151023.pdf

      If you have lost a substantial number of photoreceptor cells and are now at the light perception or hand motion level, you may be able to benefit from several new sight restorative technologies that are currently being testing in human clinical trials. Currently, there are three promising technologies for sight restoration. They are: Visual Prosthetics, Optogenetics and Stem Cell photoreceptor replacement therapy.

      Visual prosthetic devices such as the ARGUS-2, developed by Second Sight, provides electrical stimulation of the retina to induce visual perception in blind individuals. To learn more about the ARGUS-2, please see the following weblink: http://www.secondsight.com

      Optogenetics is an exciting new technology that is able to convert non-light sensing cells in the retina into photoreceptor-like cells. Currently, Retrosense is conducting a human clinical trial in blind patients with RP. For more information, please see the following weblink: http://www.retrosense.com/development.html

      Stem cells hold much promise for sight restoration. However, like optogenetics, the safety and efficacy of stem cell treatments are still being evaluated in human clinical trials. ReNeuron is currently conducting a clinical trial to evaluate the safety and efficacy of a stem cell treatment to restore visual function in blind individuals with retinitis pigmentosa. For more information, please see the following weblink: http://www.reneuron.com/products/hrpcs-for-retinitis-pigmentosa/

      Thank you for your financial support that is helping to accelerate the development of new treatments for retinal disease.

    • Frank Siragusa says:

      That’s crazy , I have the same story as you. Diagnosed @ 20 & now I’m 40 with rip.

  6. Gousi says:

    Can you please share the phone number.can the retintis pigmentosa be treated. I need more information do you have any clinics in london? I stay in london. My cousin is having that problem and he stays in india. Waiting for your kind reply.

  7. Dear Sir,
    Am a 44 tear old person with star guardt retinal disoroder. Am looking for some short of solution to treat this disorder and to recover from partial blindness.

    Please advice me if you have any theoraphy or medication. Also let me kk know whom to contact on this subject.

    • Dr. Tim Schoen says:

      Dear Suriya,
      You will be pleased to know that the Foundation Fighting Blindness is partnering with Sanofi Pharmaceuticals on a gene therapy clinical trial for Stargardt disease. 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 In order to participate in this or any other gene therapy trial, you must first obtain a molecular (genetic) diagnosis. 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 also consider enrolling in “My Retina Tracker”, a free registry that helps link people with retinal disease to appropriate clinical trials that are recruiting. For more information on “My Retina Tracker” please see the following web link: https://www.myretinatracker.org/

      Below is a list of companies that are developing treatments for Stargardt Disease:

      Sanofi (http://en.sanofi.com/index.aspx) Gene therapy offers a viable alternative to pharmaceutical therapy. With gene replacement therapy, a normal ABCA4 gene is introduced into photoreceptor cells to supplant the function of the defective gene. FFB-supported scientist, Dr. Rando Allikmets, was the first individual to show that a lentivirus could be used to deliver a normal ABCA4 gene into photoreceptor cells of the ABCA4 mutant mouse. Dr. Allikmet’s gene therapy studies have led to a collaboration between Sanofi and the Foundation Fighting Blindness to develop a gene therapy treatment Stargardt disease. A Phase I/II human clinical trial evaluating Stargen™ was initiated in 2011. The Phase I/II trial is currently taking place in Paris, Oregon, Texas and Florida. For more information, see the following link: http://www.clinicaltrials.gov/ct2/show/NCT01367444?term=stargardt&rank=3

      Alkeus, (http://alkeus.com/) Alkeus has developed a form of vitamin A that upon light interaction, does not form toxic vitamin A metabolites and A2E. Alkeus’ lead compound, ALK-001, is an oral compound with a well-understood mechanism of action. ALK-001 was specifically designed to treat Stargardt disease by preventing the formation of these toxic vitamin A dimers in the eye. Alkeus is currently recruiting patients for a Phase 2 human clinical trial. Here is the link to the clinical trials.gov recruitment page: https://www.clinicaltrials.gov/ct2/show/NCT02402660

      Vision Medicines (http://visionmedicines.com/index.html) is developing VM200, an oral small molecule drug candidate for the treatment of Stargardt disease. Stargardt disease is caused by mutations in a key transporter called ABCA4, which lead to the buildup of toxic vitamin A aldehydes and derivatives in the retina to cause blindness. VM200 neutralizes the toxic vitamin A aldehyde and has the potential to be the first treatment for the disease. For a more detailed overview of VM200, please see the following weblink: http://visionmedicines.com/pdf/VM200-Overview-Presentation.pdf
      To read more about the partnership between Vision Medicine and FFB, see the following web link: http://www.blindness.org/foundation-news/foundation-fighting-blindness-partners-vision-medicines-develop-stargardt-disease

      Astellas Pharma (https://www.astellas.us/ ) acquired Ocata Therapeutics in May of 2016. Headquartered in Marlborough, Massachusetts and supported by a research team in Tsukuba, Japan, Astellas serves as a global hub for regenerative medicine and cell therapy research in ophthalmology and other therapeutic areas that have few or no available treatment. At the present time, the RPE transplantation studies have been completed and the Phase 3 trial has yet to be announced. http://www.clinicaltrials.gov/ct2/show/NCT01469832?term=advanced+cell+technology&rank=2

  8. snehal says:

    hello.
    im 22years old
    i have rp
    i lost complete vision of my right eye
    and the left eye is on the way..
    i request you to make this treatment available in india
    thank u

  9. Fayyaz says:

    Can you please share the phone number.can the retintis pigmentosa be treated. I need more information do you have any??
    Is there any treatment for this disease in any country??
    Please reply

    • Dr. Tim Schoen says:

      Dear Fayyaz, If you have some eyesight, you should consider genetic testing to try and identify the mutant gene responsible for causing the disease. If the gene is identified, you may be able to qualify for one of the gene therapy trials currently 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/pages/pdfs/Genetic-Testing-Booklet-V5.2-20151023.pdf

      You should also consider participating in FFB’s “My Retina Tracker”, a free registry that can help you identify clinical trials that are recruiting. For more information on “My Retina Tracker” please see the following web link:
      https://www.myretinatracker.org/

      Finally, you may find it 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. Each listing provides information on what the study is about, the requirements for participating and contact information. Thank you for your support that is helping to accelerate the development of new safe and effective treatments for inherited retinal disease.

  10. bahador ansari says:

    Hi
    I am46,i have rp.(otosomal resesive)can i be hopeful about rp treatments by gene thereapy,stem cells or artifitcial retina in the near future?

    • Dr. Tim Schoen says:

      Dear Bahador, You should consider genetic testing to try and identify the mutant gene responsible for causing your RP. If the gene is identified, you may be able to qualify for one of the gene therapy trials currently taking place. For more information on genetic testing, please see the following web link to download a PDF document:
      http://www.blindness.org/sites/default/files/pages/pdfs/Genetic-Testing-Booklet-V5.2-20151023.pdf

      You should also consider participating in FFB’s “My Retina Tracker”, a free registry that can help you identify clinical trials that are recruiting. For more information on “My Retina Tracker” please see the following web link:
      https://www.myretinatracker.org/

      Finally, you may find it 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. Each listing provides information on what the study is about, the requirements for participating and contact information. Thank you for your support that is helping to accelerate the development of new safe and effective treatments for inherited retinal disease.

  11. Tahir Haleem says:

    This is great news. i am 27 years old, patient of RP, I would appreciate if the foundation could contact/email me if any upcoming clinical trial is.
    I am from Pakistan.
    how much expensive is, this treatment? because i can’t afford international treatment.
    please email or contact @
    00923217770377

  12. Essay writer says:

    That is really amazing.Great work by Nightstar, I am hoping to get more information of this, please keep on posting.

    • Kelly says:

      This is amazing and what you guys are doing is there anyway I can get in any information about this I have RP I am a 37-year-old woman I would love to get some information on this thank you so much

      • Dr. Tim Schoen says:

        Hi Kelly, You should consider genetic testing to try and identify the mutant gene responsible for causing your RP. If the gene is identified, you may be able to qualify for one of the gene therapy trials currently 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/pages/pdfs/Genetic-Testing-Booklet-V5.2-20151023.pdf
        You should also consider participating in FFB’s “My Retina Tracker”, a free registry that can help you identify clinical trials that are recruiting. For more information on “My Retina Tracker” please see the following web link:
        https://www.myretinatracker.org/
        Finally, you may find it 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. Each listing provides information on what the study is about, the requirements for participating and contact information. Thank you for your support that is helping to accelerate the development of new safe and effective treatments for inherited retinal disease.

  13. Anjum says:

    Its Amazing
    Good news for RP patients like me…
    May be in near future
    we ll be treated wid this therapy
    Keep it up guys

  14. Sabina says:

    Hi!
    My friend’s 14 years old son has RP, I wouldike to sing him for the clinical trial, gene therapy.
    I will appreciate your answer.
    Thank you
    Sabina

  15. Jagannath Sil says:

    Iam a patient of RP from India.I am partially blind please help if any treatment is possible for restoration of my sight .Any development would be imformed so that there is some hope for me.

    • Dr. Tim Schoen says:

      Dear Jagannath, You should consider genetic testing to try and identify the mutant gene responsible for causing the disease. If the gene is identified, you may be able to qualify for one of the gene therapy trials currently 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/pages/pdfs/Genetic-Testing-Booklet-V5.2-20151023.pdf
      You should also consider participating in FFB’s “My Retina Tracker”, a free registry that can help you identify clinical trials that are recruiting. For more information on “My Retina Tracker” please see the following web link:
      https://www.myretinatracker.org/
      Finally, you may find it 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. Each listing provides information on what the study is about, the requirements for participating and contact information. Thank you for your support that is helping to accelerate the development of new safe and effective treatments for inherited retinal disease.

  16. Carmen says:

    My brother in law has RP and is now left with 1% vision. I would like to know more about these trials and any information anyone else in the comment section knows about RP. There is not enough awareness about this disease, we need to come together and raise awareness so more can be done to find a cure. If you have any information or ideas to spread this news and get more people on board, raise awareness, donate, anything – please reach out to me: myownmee@gmail.com.

    • Dr. Tim Schoen says:

      Dear Carmen, If your brother in law has lost substantial vision and is at the light perception or hand motion level, he may be able to benefit from several new sight restorative technologies that are currently being testing in human clinical trials. There are three promising technologies for sight restoration that are actively being explored. They are: Visual Prosthetics, Optogenetics and Stem Cell photoreceptor replacement therapy.

      Visual prosthetic devices such as the ARGUS-2, developed by Second Sight, provide electrical stimulation of the retina to induce visual perception in blind individuals. To learn more about the ARGUS-2, please see the following weblink: http://www.secondsight.com

      Optogenetics is an exciting new technology that is able to convert non-light sensing cells in the retina into light-sensitive cells. Currently, Retrosense is conducting a human clinical trial in blind patients with RP. For more information, please see the following weblink: http://www.retrosense.com/development.html

      Stem cells hold much promise for sight restoration. However, like optogenetics, the safety and efficacy of stem cell treatments are still being evaluated in human clinical trials. ReNeuron is currently conducting a clinical trial to evaluate the safety and efficacy of a stem cell treatment to restore visual function in blind individuals with retinitis pigmentosa. For more information, please see the following weblink: http://www.reneuron.com/products/hrpcs-for-retinitis-pigmentosa/

      Your brother in law should 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/
      In addition, your brother in law may find it 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. Thank you for your support that is helping to accelerate the development of new safe and effective treatments for inherited retinal disease.

  17. Ujjwal Kansal says:

    Hi is there anybody give more update about This trial as our family is badly suffering due to Rp

  18. Deepak says:

    How to sign up for trial

    • Dr. Tim Schoen says:

      Dear Deepak, The XLRP gene therapy trial is being conducted in the U.K. by NightstarX. Here is a weblink for more information: https://www.nightstarx.com/patients/research/

      Thank you for your support that is helping to accelerate the development of new safe and effective treatments for inherited retinal disease.

  19. RAVI PATEL says:

    Amazing
    Good news for RP patients like me…
    May be in near future
    we ll be treated wid this therapy
    Keep it up guys
    PLEASE GIVE ME A MORE DETAILS
    PLEASE
    how much expensive is, this treatment? because i can’t afford international treatment.
    please email or contact

  20. sachin says:

    sir,

    My name is sachin i am 22 years old. I am suffering with retinapigmotoza diseases. Can you please helpme with that.

    • Dr. Tim Schoen says:

      Dear Sachin, You should know that there are three inherited forms of RP: recessive, dominant and X-linked. If you are not sure which type you have, you should ask your ophthalmologist. For information on inheritance types, please see the following web link to download a PDF document on inheritance:
      http://www.blindness.org/sites/default/files/inheritance_of_retinal_degeneration_-_july_2012.compressed.pdf
      You should consider genetic testing to try and identify the mutant gene responsible for causing the disease. If the gene is identified, you may be able to qualify for one of the gene therapy trials currently 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/pages/pdfs/Genetic-Testing-Booklet-V5.2-20151023.pdf
      You should also consider participating in FFB’s “My Retina Tracker”, a free registry that can help you identify clinical trials that are recruiting. For more information on “My Retina Tracker” please see the following web link:
      https://www.myretinatracker.org/
      Finally, you may find it 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. Each listing provides information on what the study is about, the requirements for participating and contact information. Thank you for your support that is helping to accelerate the development of new safe and effective treatments for inherited retinal disease.

  21. Akinsanmi oriola says:

    Iam patient of RP from Nigeria. I wish to participate in the coming clinical trial. Kindly avail me the necessary information. Thanks

  22. Prince Sheriff says:

    pls kindly assist those with this disease to regain their freedom by making available d next clinical trial . thanks

  23. Hemant Ranjan says:

    This is regarding my Father, he is 60 Years old and suffering from RP.

    Please let me know what needs to be done to get register for the clinical trial.

    Thanks

    • Dr. Tim Schoen says:

      Dear Heman, Your father should consider genetic testing to try and identify the mutant gene responsible for causing his RP. If the gene is identified, he may be able to qualify for one of the gene therapy trials currently 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/pages/pdfs/Genetic-Testing-Booklet-V5.2-20151023.pdf
      Your father should also consider participating in FFB’s “My Retina Tracker”, a free registry that can help him identify clinical trials that are recruiting. For more information on “My Retina Tracker” please see the following web link: https://www.myretinatracker.org/
      Finally, your father may find it 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. Each listing provides information on what the study is about, the requirements for participating and contact information. Thank you again for your support that is helping to accelerate the development of new safe and effective treatments for inherited retinal disease.

  24. Robert says:

    Hello Fantastic Work! Amazing progress and i hope it continues. My Neighbour Jane Sellers has R.P. any new news please do post. I expect your very busy, and inundated with emails, but will look out for more updates in time.

    All the best with this!

    Sincerely, Robert

  25. joseph r. pangosfian,jr says:

    i am a patient of RP from the philippines..i am partially blind right now..you can help much not only me but to all those who are suffering from RP BY posting the latest cure for this sickness and how much it may cost

    • Anshika tiwari says:

      We all are waiting for the treatment… i just hope anyone really read these posts and reply to these.

  26. Anshika tiwari says:

    Pleased to read this..i wanted to know the cost of the trial and how to sign up for this. Also by wht time this treatment can be available for normal people?
    I will be eagerly waiting for reply.

    • Dr. Tim Schoen says:

      Dear Anshika, The XLRP gene therapy clinical trial in England is sponsored by the company, Nightstar Therapeutics. If you are accepted into the trial, the treatment is free. However, the cost of your travel and board may not be covered by the company. If you would like more information on this trial, please see the following weblink: https://www.nightstarx.com/patients/research/

  27. Shikha Batra says:

    Pls reply me. I m really worried for my 8 year old son who is diagnosed with hmd disease

    • Dr. Tim Schoen says:

      Dear Shikha, HMD disease could refer to hyaline membrane disease or hereditary macular degeneration. Could you please specify which of these two diseases your son has? Thanks!

  28. Crystal says:

    My ten year old sister has been recently diagnosed with RO. And we are scared to death. We would love to find a cure before this gets worse. Please contact me with options

    • Dr. Tim Schoen says:

      Dear Crystal, You should ask your parents to consider genetic testing for your sister to try and identify the mutant gene responsible for causing her RP. If the gene is identified, she may be able to qualify for one of the gene therapy trials currently taking place. Additionally, if the gene is identified, it is possible to find out the types of research that is being done on the gene and protein. For information on genetic testing, please see the following web link to download a PDF document:
      http://www.blindness.org/sites/default/files/pages/pdfs/Genetic-Testing-Booklet-V5.2-20151023.pdf
      Your parents should also consider enrolling your sister in FFB’s “My Retina Tracker”, a free registry that can help you identify clinical trials that are recruiting. For more information on “My Retina Tracker” please see the following web link: https://www.myretinatracker.org/
      Finally, you and your parents may find it 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. Each listing provides information on what the study is about, the requirements for participating and contact information.

  29. Karen Tan says:

    could you pkease please help in providing info if this is y is available in the Philippines. my mom has rp and i really am constantly reading articles for cure. :'(

    thankyou so much. pls send me an email. would appreciate it so much.q
    ktf.priv@gmail.com

  30. vijay says:

    My both kids are kids( 6 & 2 years old ) are Diagnosed with RP could you pl. let me know currently where this treatment stands now. Thanks a lot all the doctors involved in this this is really amazing and giving a second life. Pl. make some quick progress here.

    • Dr. Tim Schoen says:

      Dear Vijay, You should know that there are three inherited forms of RP: recessive, dominant and X-linked. If you are not sure which type your children have, you should ask their ophthalmologist. If you would like to learn more about inheritance types, please see the following web link to download a PDF document on inheritance:
      http://www.blindness.org/sites/default/files/inheritance_of_retinal_degeneration_-_july_2012.compressed.pdf

      The XLRP gene therapy trial is only for people with mutations in the RPGR gene that causes XLRP-3. You should consider genetic testing to try and identify the mutant gene responsible for causing your children’s. If the gene is identified, they may be able to qualify for one of the gene therapy trials currently taking place. Additionally, if the gene is identified, it is possible to find out what types of research are being done on the gene and protein.
      For information on genetic testing, please see the following web link to download a PDF document:
      http://www.blindness.org/sites/default/files/pages/pdfs/Genetic-Testing-Booklet-V5.2-20151023.pdf
      You should also consider enrolling your two children in FFB’s “My Retina Tracker”, a free registry that can help with the identification of clinical trials that are recruiting. For more information on “My Retina Tracker” please see the following web link:
      https://www.myretinatracker.org/

      Finally, you may find it 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. Each listing provides information on what the study is about, the requirements for participating and contact information. Thank you for your support that is helping to accelerate the development of new safe and effective treatments for inherited retinal disease.

  31. Terreah Dietel says:

    What advancements have been made in optical nerve atrophy from a brain tumor….. Can you please share with me the latest information on any clinical trial that may be available.

    I have partial vision ( low vision ) and am needing information regarding stem cell or gene therapy.

  32. Shubh says:

    Hi I am a British citizen and looking to be involved in this new RP related trials. Please get back to me ASAP.

  33. Richard R. says:

    Is this treatment also for X-Linked RPGR ORF15 ?
    Are there any other trials for the above form of RP ?

    • Dr. Tim Schoen says:

      Dear Richard, You are correct that this XLRP trial is for patients that have mutations in the RPGR gene. AGTC is also moving towards human clinical trials with a gene therapy treatment for RPGR. For more information, please see the following weblink: https://www.agtc.com/products

    • Richard says:

      Is this treatment for ‘gain-of-function’ X-Linked RPGR ORF15 ?

      • Dr. Tim Schoen says:

        Dear Richard, It is my understanding that the two RPGR gene therapy trials (McClaren and AGTC) are for people with “recessive X-linked” mutations in the RPGR gene. It is unknown if this gene therapy would be effective for a “gain of funtion” mutation in RPGR ORF15. Certain truncated forms of RPGR can behave as a dominant, gain-of-function mutants. If the recessive gene therapy fails, then one would need to employ technology like SiRNA, Ribozymes or CRISPR-Cas9 to suppress the gain of function mutation.

  34. Shisu says:

    My name is shisu Braimah. I am 30. I have been diagnosed with rp 6 years ago. I am happy to learn about this new update on the fight against this frustrating desease. We would all appreciate if the cost for the contemporary trial is made known to us. I’m from Ghana. And I’m begging you to contact me on my mobile number. 0200213268. Please please please help us.

    • Dr. Tim Schoen says:

      Dear Shisu, The gene therapy trial in the FFB article is for people with X-linked RP. You should consider genetic testing to try and identify the mutant gene responsible for causing your RP. If the gene is identified, you may be able to qualify for one of the gene therapy trials currently taking place. Additionally, if the gene is identified, it is possible to find out what types of research are being done on the gene and protein.
      For information on genetic testing, please see the following web link to download a PDF document:
      http://www.blindness.org/sites/default/files/pages/pdfs/Genetic-Testing-Booklet-V5.2-20151023.pdf
      You should also consider enrolling in FFB’s “My Retina Tracker”, a free registry that can help you identify clinical trials that are recruiting. For more information on “My Retina Tracker” please see the following web link:
      https://www.myretinatracker.org/
      Finally, you may find it 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. Each listing provides information on what the study is about, the requirements for participating and contact information. Even though you are in Ghana, it is still possible to participate in U.S. based clinical trials. Please feel free to call me on my cell phone at: 954-330-8464.

  35. David Salau says:

    My name is David Salau who lives in the US. I have usher syndrome, I need to know how I could be enrolled for the clinical trial.

  36. Audrone says:

    Congratulations,
    This is a great achievement in the treatment of RP.I’m diagnosed with RP. I use electrostimulation (OkuStim device Okuvision GmbH). I still do not know which my gene is damaged. I have come to any laboratory or clinic treatment (trial). I am from Lithuania.
    I’m hoping for an answer.
    Kind Regards

    Audrone Dumciene
    Prof. dr., Lithuanian Sports University

  37. SG says:

    Hello:

    This is exciting. My 23 year old nephew has RP and is close to losing his vision in both eyes. How can he participate in a trial? Do patients have to pay to take part in the trial?

    Hoping to hear back soon.

    Thanks.

  38. Alex Rosario says:

    Hi my brother and I have XLRP.
    I was diagnosed when I was 7yr I’m 30 right now. Please help us

  39. Sandeep Bansal says:

    I’m Sandeep Bansal from India. Me and my elder brother are suffering from RP. We want to get treated. We need more information about this treatment. Please keep updating.

  40. KM says:

    Hi,

    I am 29 year old and was detected with RP 12 years back
    Kindly provide me with your contact details for further information regarding RP Treatment

  41. John Elwood says:

    AGTC has also applied with the FDC to initiate a clinical trial for XLRP due to mutations in the RPGR gene. Based on the filings made by AGTC it is clear their treatment is specifically for ORF15 deletions in the RPGR gene. I have not been able to determine from anything I have seen published by Nightstar which mutation in the RPGR gene they are targeting. Do you have further information regarding the specific RPGR mutation being targeted.

    • EyeOnTheCure says:

      Hi John,

      Go to http://www.clinicaltrials.gov and search on “retinitis pigmentosa” and “x-linked” to find all three XLRP gene therapy clinical trials: AGTC, MeiraGTx, and Nightstar. You will find contact information for each of the trials. Call or e-mail them to discuss which patients (mutations) they are targeting now and potentially in the future.

  42. Eric Martinez says:

    My name is Eric Martinez, I am 20 years old, live in the United States, and suffer from retinitis pigmentosa. I am very interested in finding out more about these advances, and if possible participate in one of the future trials. You can contact me at my email. Thank you for your hard work and dedication as you work towards finding a cure for this disease.

  43. Mehnaaz Shah says:

    My 13 year old son was diagnosed with RP almost 6 years ago .. earlier he had underrgone cataract surgeries also. where this treatment currently stands now. Iwould love to find the cure before it gets worse for my son . Plz let me knw what needs to be done to get register for the trial. I am from india . Kindly avail us the necessary information . Is it possible for my son to get benefit from this amazing research … plz reply ASAP

    • EyeOnTheCure says:

      Go to http://www.clinicaltrials.gov and search on studies for “retinitis pigmentosa.” See what trials are of interest and if you meet the trial criteria. There is contact information for the studies, as well. We are not aware of trials in India, but they may be some in Europe. Most are in the U.S.

  44. Viktoriya vigovsky says:

    Hi
    My dad had RP. I would like to get more information on this trial. And where do we need to sign up.
    Could you please email me.

    Thank you and God Bless.

  45. Taleb Alwadi says:

    Hi
    My Father has a RP and he lost his vision completely, could you please advise if this treatment available for international patients.

    Please respond to me

    Regards,,

  46. YAmu says:

    My Uncle have RP since 20 years and want tobe treated.

    Please let me know how to get gene therapy

  47. Kotur S Narasimhan says:

    My brother -in-law from India (74) a herititary case of RP is a willing case for clinical trial. We are eager to further correspondence.

  48. Lonni Martin says:

    My fiance has RP. He is a young, healthy, smart 64-year-old limited to sight the size of pencil eraser. Could you provide info on possible trials he could participate in? Or perhaps sign me up for info via email? We are very excited about new progress and are hoping to save him from total blindness. Thank you so much. We are located in Washington State, USA, but willing to travel.

    Sincerely and hopefully,

    Lonni Martin

  49. Amir says:

    First of all I’m going to express my appreciation for your all efforts which you made up to now to inform all patients of RP treatment last statues.

    It is Amir from Iran, my mother is afflicted with RP Congenital and I also have congenital RP. my id in my retina tracker is gholami.amir.

    I already completed my survay. Now what is the next step?

    Would you please to let me know for genetic testing what shall I do?

    Thank you in advance.

  50. Skylar Hoage says:

    Hello, my name is Skylar I’m a 3rd generation of Rhetinitis Pigmentosa, I also have Macular Edema and cataracts in both eyes I see 20/200 and I’m the first female in my female to get the disease, my grandfather has all of the same as well as my father who is 40 my grandfather is completely blind, I would love to see how this works and be apart of this, I was diagnosed at 2 years old and was predicted to be completely blind by 20, if you have information please contact me or send me information. Crawford Colorado 81415 P.O. Box 367 Please help me.

  51. Please contact me as a patient for RP..I have advanced rp. Im 51. Please use me for research on this inherited disease. Begging for a small miracle:)

  52. Prakash says:

    Thanks so much for information and a see a hope for kids on their eye condition. I have two sons who has RP. Let us know the cost and how we can avail this service.

  53. Manju says:

    I am 30…i am having RP in both eyes..i have lost almost 70% of sight..please do help me…thank you

  54. Neville Falconer says:

    Is there any update on the clinical trial gene therapy x likjed rpb

  55. Marielle Rodriguez says:

    My husband has RP, he is 39 y/o, lives in Puerto Rico, USA. Wondering, if he qualifies for enrollment for Trial.

  56. Heidi says:

    Hi i am 43 years old and i have RP and would like to know how when en where i can sign up for the trial my vision is very low

  57. Susan Nagy says:

    I am the interpreter for Sara Papp in Budapest, Hungary who suffers from Retinitis Pigmentosa. She has been to see Dr. Robert MacLaren in Oxford, UK in January of 2017. At that time he examined her and took blood for genetic testing. To date we have not received results of this test so we don’t know if she has the XL factor for RP. But if she does we would be interested in taking part in the above mentioned gene therapy. Is this possible or have the candidates been chosen already? Is this an on-going procedure?

    • EyeOnTheCure says:

      Hi Sara, It is best if you follow-up with Dr. MacLaren and his colleagues. You need genetic testing results to move forward. Keep in mind that XLRP more frequently affects males.

  58. Amol Panode says:

    Hi if there are any hopes to get RP cure, please let me now, there are so many ppl waiting for it.

  59. Howard Turman says:

    After reading extensively about what you are doing with Gene Therapy,I am very excited since I am a male with XLinked RP and would like to be contacted for any trials.

  60. Gopal Agrawal says:

    My son and dougter both sufferig from rp loosing vision day by day when it avilable in india and what cost approximate for treatment kindly infrm pls

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