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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.


23 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.

  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.

  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.

    • Dr. Tim Schoen says:

      You 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 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.

      Below is a listing of Medical institutes in India that have expertise in treating retinal disease. All of these institutes have highly trained ophthalmologist and are all well equipped.

      L. V. Prasad eye institute, Hyderabad, Telangana.
      http://www.lvpei.org/

      Shankara Netralaya, Chennai, Tamilnadu:
      http://www.sankaranethralaya.org/

      Aravind Eye Hospital, Madhurai, Tamilnadu
      http://www.aravind.org/

      Battu eye care, Dr. Rajani Battu, Bangalore, Karnataka
      http://www.peopletreehospitals.com/profile.php?article_id=154

      L.V. Prasad eye institute, Bhubaneswar, Orissa
      http://www.lvpei.org/contact-bhubaneswar.php

      All India Institute of Medical Sciences, New Delhi
      http://www.aiims.edu/en.html

    • Nancie Froning says:

      My son & I has RP, I read your info and we have found that you can look up NightstaRx, website. They are the biotech company that is in conjunction with Oxford University in London. They are currently accepting up to 30 patients with Xlink RP, males that are healthy. You can fill out a form to be contacted about the trial.

  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.

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