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Promising Early Findings on First-of-its-Kind Retinitis Pigmentosa Therapy

Retinitis pigmentosa is a group of blinding eye diseases caused by more than 150 different gene mutations, making effective therapies difficult to develop. A new treatment created by scientists at Massachusetts Eye and Ear aims to provide broad-spectrum therapy, regardless of genetic cause, with promising early results in animals.

Scientists are working hard to find a cure for retinitis pigmentosa—a group of rare eye diseases that leads to permanent vision loss. Many treatments in development aim to target one of the 150 or more genetic mutations linked to this disease. But now, a novel treatment developed by scientists at Mass. Eye and Ear may one day help preserve or restore vision in patients with retinitis pigmentosa, regardless of their specific genetics.

Retinitis pigmentosa, which is part of a class of conditions called inherited retinal degenerations, affects approximately 1.5 million individuals worldwide, or 1 in 4,000 people. The condition causes photoreceptor cells in the eye’s retina to degenerate, leading to severe and permanent vision loss. In people with normal vision, the eye’s retina acts as a camera, where photoreceptor cells capture light and turn it into a brain signal to enable sight.

Since so many different genetic mutations are linked to retinitis pigmentosa, people experience varying degrees of symptoms, at different ages of onset, which makes diagnosing the condition difficult. In fact, some studies suggest that up to 40 percent of patients with retinitis pigmentosa cannot get a genetic diagnosis. That prompted lead researcher Neena B. Haider, PhD, an associate scientist at Mass. Eye and Ear, and her team to try to develop a “broad-spectrum” treatment approach that would be effective for anyone with retinitis pigmentosa regardless of the genetic cause.

Lead study author Neena Haider, PhD, associate scientist at Massachusetts Eye and Ear.

“Transformative” gene therapy

The new treatment starts with a nuclear hormone receptor gene called Nr2e3. In 2000, Dr. Haider made the first discovery that Nr2e3 was associated with several forms of inherited retinal disease. More recently, in mouse models, Dr. Haider’s lab showed that nuclear hormone receptors such as Nr2e3 (and Nr1d1) can rescue retinal degeneration. Her team’s studies have also found that Nr2e3 helps to maintain the eye’s normal retinal function and health. Given these beneficial associations, Dr. Haider and her colleagues wanted to see if providing Nr2e3 to other types of mouse models with retinitis pigmentosa might slow retinal degeneration and improve retinal health.

Mass. Eye and Ear researchers led by Dr. Haider developed a treatment that consists of delivering Nr2e3 to target cells in the retina using an adeno-associated viral (AAV) vector. Made from a harmless, inactivated virus, AAVs are delivery vehicles that carry genetic material to a cell. Dr. Haider’s team has previously published delivery and rescue of retinal degeneration with multiple AAV delivery vectors, nanoparticles, and even just DNA. Thus, the gene therapy product can be effective regardless of what vehicle is used to deliver it, according to Dr. Haider.

In the new study, published March 2 in Nature Gene Therapy, Dr. Haider’s group tested the novel treatment in five mouse models that have different forms of retinitis pigmentosa. Specifically, the mice had genetic forms of the disease caused by mutations in: Pde6B (rd1), Rhodopsin (Rho-/- and RhoP23H), cep290 (rd16), and Nr2e3 (rd7).

Each mouse model showed improvements when given the therapy at birth prior to disease onset. Remarkably, and relevant to patients currently suffering from retinitis pigmentosa, improvement was also observed when therapy was given after disease onset. Dr. Haider added that the therapy reduced retinal degeneration in these mice by allowing the retina to resume function and health to a more normal, stable state. Partial rescue of photoreceptor cells occurred in all five mouse models.

“There is no single treatment or diagnostic test for retinitis pigmentosa because there are more than 150 genes that cause it. Therefore, new therapeutic approaches are essential to preserve and restore vision,” explained Dr. Haider. “These promising findings in mice are unprecedented and give us great hope as we begin FDA studies that will lead to and guide clinical trials.”

Dr. Neena Haider and her laboratory colleagues.

Currently, there are several other gene therapies for retinitis pigmentosa in development. Similarly, many of these treatments use AAVs to target a particular gene: An example of a single-gene replacement therapy for an inherited retinal disease caused by mutations in the gene, RPE65, is Luxturna. In 2018, Mass. Eye and Ear was the first to perform Luxturna replacement therapy in the U.S. in a 13-year-old boy experiencing vision loss.

This new therapy can use AAV but avoid the need to target a specific gene, opening up treatment possibilities to more forms of the disease, Dr. Haider points out.

“In the landscape of gene therapy, this is transformative and a game changer in how we design gene therapies that can potentially have a profound impact on human diseases,” said Dr. Haider.

Dr. Haider’s research has been funded by the National Institutes of Health consistently and without interruption since the project’s start, nearly 20 years ago.

Novel treatment moving through drug development process

In 2017, Dr. Haider and her team partnered with a pharmaceutical company named Ocugen to license her research in order to develop and commercialize this treatment, called OCU400, as an ophthalmology medication.

Last September, the U.S. Food and Drug Administration granted OCU400 an Orphan Drug Designation for retinal disease associated with the CEP290 gene, in addition to NR3E3 mutation-associated retinal degenerations. This designation provides incentives for companies to treat rare diseases affecting fewer than 200,000 patients in the U.S., such as tax credits for research costs and other marketing and trial exclusivity.

The team hopes to begin clinical trials with this treatment by 2021 with Mass. Eye and Ear as a trial site.

52 thoughts on “Promising Early Findings on First-of-its-Kind Retinitis Pigmentosa Therapy”

  1. I am a 50 male with retinitis pigmentosa. I have roughly 5 degrees of field vision left at the moment. If/when this gene therapy goes to clinical trial, I would like to know how to be considered.

  2. My husband is diagnosed with RP few years back. Can you please advice how to avail this treatment if this is proven successful ?
    Every day it is painful and fearful what might happen in the future.

  3. My daughter is diagnosed with RP few years back. Can you please advice how to avail this treatment if this is proven successful ?
    Every day it is painful and fearful what might happen in the future.

    1. Hi Sampat, thanks for reading. The trial is currently in preclinical study and not yet in clinical trials in people, but we will keep our readers updated through our blog when trials advance. You can also follow the company who will be leading the trial, Ocugen, for more updates:

  4. Hello. I am 50 years old and suffering from RP and losing vision gradually since 2014. According to my DNA, the mutations are caused by gene MFSD8. This is a great news. Please let me know how can I get this treatment. I can be part of trials. Regards.

  5. My fiancé was diagnosed with RP last year. He is only 28 years old. We are getting married March 2021 and are very interested in the clinical trials.

    1. Hi Larisa, thanks for reading and congratulations on your upcoming wedding! We’ll continue to update our blog on any progress with the trial and other ongoing gene therapy studies for inherited retinal degenerations. You can also follow the company who will be leading this particular trial, Ocugen, for more updates:

  6. Hi im the patient of RP and need to contact with you for discussing my disease, and im from pakistan and i want to improve my vision better because im loosing it day by day i need your help.

  7. Thank you for your research. My grandson was just diagnosed with retinitis pigmentosa last week. He is 13 years old and has lost his night vision. I would love it if your research would lead to a cure or at least help him to retain as much of his sight as possible.

    1. Thanks for reading and your comment, Elizabeth. We share that wish and hope there will one day be a cure for your grandson too. Our scientists are hard at work.

  8. my daughter Celine has retinnitus pigmentosa Bardet Biehl syndrome one can u tell me has there been any progress in a treatment or a cure tks

  9. Wife diagnosed with RP about 4 years ago. Has lost about 85% of field of vision., Had genetic testing done and it was determined RP was due to Usher Syndrome. I have more complete information if you ever need to have a volunteer for any trial. Please contact. THX

  10. My twin brother Randy is 63 years old and has been deaf from birth. He was diagnosed with retinitis pigmentosa in his late teens. His vision is very poor making it hard for him to walk. Since he is deaf it makes it more difficult to balance. He has fallen many times. I fear he will go blind and being deaf he would exist in a Helen Keller world which I find horrifying. If the treatment is effective I would like for him to start the treatment as soon as possible because his whole life and well being is at stake. It is so troubling to watch and I have prayed for many years hoping for a treatment to help him. It would be such a wonderful gift for him to at least be able to see properly to where his safety is a big concern. Please help him.

    1. Hi Brenda, thanks for reading and commenting, and we are sorry to hear about your brother and what he has gone through for many years. Our scientists are hard at work studying treatments for inherited retinal disorders. While the research in this specific post is not yet in human trials, there are some ongoing studies at our Inherited Retinal Disorders service for people with IRDs caused by specific genetic mutations. You can learn more here: . We’ll continue to keep Focus updated on news on Dr. Haider’s trial.

  11. My 27 year old son was diagnosed this week with RP and we were told that no treatment was available to help him. I was told to seek out a retina specialist and to try to find a good clinical study. He has no vision in one eye and it is only minor trouble so far in his “good” eye. I will reach out to the dept to see if we can get him on a list for this trial or hopefully any other coming up. Thanks for posting you blog and sharing hope.

  12. Help help
    I have two boys with this condition I would love them to both see again I kills me as a mother to have passed this on to them .
    So if there is any way they can both be part of this program I would be amazing

    Kind regards
    Karen kennedy

    1. Hi Karen, thank you for reading, we are sorry to hear about your boys. We will continue to update our blog on this trial when there is more news. We also have a service at Mass Eye and Ear with some other ongoing treatments and trials for certain genetic causes of this condition in case you’d like to follow up.

  13. I am of 60 years age and i have genetic RP , MY VISSION IS NOT GOOD AND MY GENE MUTAIONE IS RP1 , if there any hope for treat me ? thank you

  14. God Bless you people. I have retinitis pigmentosa and i try not to think about it, but it is still very depressing. I will keep the faith for your studies and a breakthrough. Thank you

    1. Thank you for reading and your comment William, our researchers share your desire to find cures and breakthroughs for these diseases.

  15. I have rp, my sister has rp , my mother had rp, her brother and father had rp. I’m 64 and I’ve had to stop working because of lack of vision. My sister is 61 and had to stop driving at 45. We would be very interested in clinical trials. Please help My sister really deserves some hope.

    1. Hi Fern, thanks for reading and your comment. Our researchers are hard at work and we’ll continue to update our blog if there’s any progress on this study, or any other new clinical trials underway for inherited retinal disorders.

  16. I am a male, age 72. I lived in western MA. for 8 years. I now reside in Somerset County, NJ. I have lived with RP a long time and been awaiting a cure for my condition. I want to commend Dr. Haider and her associates for what they are doing on our behalf. God bless you and your research. Sad to say, for years now I have not had an eye doctor I felt competent and compassionate to deal with me, especially since the one I had died many years ago. Please remember me as you advance with your treatment successes. I have an adult son with cerebral palsy, and he needs me to be cured. Thanks.

  17. Hi. I have RP and the mutating gene is MFSD-8 according to the gene analysis. Kindly let me know if the treatment becomes available to human trials.

  18. I am a 44 year old male with RP. RP is in my family and we are apparently one of the largest families with this inherited condition. We are mentioned in a book somewhere. I would be very interested in any development in treatment.

    1. Hi Jon, thanks for sharing and for all you and your family do to get the word out on these conditions. We’ll be sure to update our blog when there is trial info.

  19. Hello, I am a 42 year old male. I Currently have 10 degrees of central vision left with some islands of far peripheral vision. I don’t know my gene mutation causing my retinitis pigmentosa. I’m interested in your treatment.

    1. Hi Joseph, thanks for reading, we’ll be sure to update our blog when new information is out on this trial. Right now this treatment is being studied in animal research with the hopes of entering clinical trials. Many of the existing clinical trials for inherited retinal disorders are specific to the gene that causes them. Here for example, genetic testing is an integral part of care for patients with IRDs. Here’s more information from the Ocular Genomics Institute:

  20. iam reza
    i am 33 years old
    i have retinitis pegmentosa x-linked
    i have genetic test answer and other my medical documents too
    i am eager to participate in your clinical trials

  21. My two brothers are by born deaf and dumb, around 30 years of age their vision started decrease, Eye Doctor confirmed that both are the patient of Usher Syndrome Retinitis Pigmentosa, kindly help us for treatment , one brother age is 42 years and other is 54 years.

    1. Hi Syed, thanks for your comment. We have researchers hard at work looking at Usher syndrome, and will update our blog as we have some findings and trials to share.

  22. I just read the article regarding RP in patients. This brings so much hope as my father has this debilitating eye disease. It has taken so much away from him. He has gone through so many stages of emotions such as denial, anger, depression etc. He can talk about it now but he is also in his late 60s. I hope that one day this will help another family avoid going through what ours have endured. My uncle and aunt also have this dreadful eye disease. Thank you for your research and dedication.

    1. Hi Melissa, thanks for reading and your comment. Stories like your family’s are what drives our doctors and scientists in their mission to develop treatments for these debilitating inherited retinal diseases.

  23. My daughter is suffering from this…and has just found out that it’s gotten worse..She is in Seattle…and I’m hoping that you could possibly help her…please contact me first…she does not like her mom (me) butting into her problems…Thank you…

  24. My Father has been diagnosed of RP Ou something like that and it’s really bothersome to his and our lives as his childrens. It has been a long year for us trying to found something like cure to recover from it but sadly it said there’s none. We are actually drinking a so called blue tea made from blue ternate that is said to be a cure or something that can alter its effect but I don’t really expecting it. We don’t have his RP today but we are afraid to have it and I don’t also want to share it from my future childrens if only We survive from Covid-19. Please help if you may

  25. My mother was diagnosed over 20 years ago and has been losing her ability to see anything as time went on. She is 67 years old and would be a candidate for this program
    We are South Carolina residents.

  26. My 9 year old grandson and 6 year old granddaughter have been diagnosed with RP. My Grandson has night blindness and vision issues that his Sister doesn’t present at present. They are undergoing genetic testing at present. Are there any treatments to delay the progression pending future solutions.

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