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ARVO Update: News on Gene Therapy Clinical Trials for RP and Choroideremia
Dr. Robert MacLaren
I was very excited to learn here at ARVO that two early-stage gene therapy clinical trials – one for choroideremia taking place in the U.K., the other for autosomal recessive retinitis pigmentosa (arRP) caused by MERTK mutations underway in Saudi Arabia – are proceeding well thus far. It is important to keep in mind that safety is the primary focus in these Phase I studies.
Dr. Emad Abboud, from the King Khaled Eye Specialist Hospital in Riyadh, reported that three patients, all in their thirties, have been treated with the MERTK gene therapy. The treatment uses an adeno-associated virus 2 (AAV2) – similar to the AAV2 used in landmark vision-restoring gene therapy clinical trials for Leber congenital amaurosis – to deliver copies of the therapeutic gene to retinal pigment epithelial cells in the retina.
Thus far, the MERTK treatment has been safe in all three patients. The two patients who received the treatment in 2011 have reported that they are seeing better with their treated eye and can read more lines on an eye chart than they could before the treatment. One woman said, “I see with the operated eye many things in the kitchen that I couldn’t see before.” The third patient, treated in April 2012, has not had his vision tested since receiving the therapy.
This study is being performed in collaboration with Dr. Kang Zhang at the University of California, San Diego.
Dr. Robert MacLaren, who is conducting the choroideremia gene therapy clinical trial at Moorfields Eye Hospital in London and Oxford Eye Hospital in Oxford, said that six people have been treated thus far with no adverse effects. This therapy also uses an AAV2 to get copies of the healthy gene into the retinal cells.
Dr. MacLaren notes that all six patients entered the trial with relatively good vision, and the goal is to demonstrate that the treatment prevents vision loss. He estimates that it will take at least two years to determine if the patients’ treated retinas have less degeneration, and better vision, than their untreated retinas.
We need to keep in mind that these are very early results for just a handful of patients. Cautious optimism is in order. Not every treatment that enters a clinical trial will be a home run. But the progress is exciting, and we couldn’t have a better group of researchers on the front lines working to get these treatments out to the people who need them.
By the way, the Foundation funded critical lab studies that made both the choroideremia and MERTK gene therapy clinical trials possible.
Did I correctly underwtand that patients with autosomal recessive RP were treated?My husband has retinitis punctata albescens, which we have been told is autosomal, recessive. Please help. E T Poulos, MD
Thanks for posting Eugenia. The recessive RP gene therapy in the clinical trial is for mutations in the gene MERTK. There are several genes which can cause autosomal recessive RP, but this treatment will work for only MERTK mutations. With that said, this study is opening the door to developing gene therapies for other forms of recessive RP and other retinal degenerations. And, there are other forms of gene therapy such as RdCVF and optogenetics that will work independent of the gene mutation.
Retinitis punctata albescens has similarities to retinitis pigmentosa, including loss of rod cells, but technically, it is a little different from “typical” RP. With that said, many approaches for treating RP — stem cells, gene therapy, pharmaceuticals — may apply to retinitis punctata albescens.
Eugenia, please find more information on optogenetics here: http://goo.gl/r1vj1 and more information on RdCVF here: http://goo.gl/YGYr4
HOLA MI HERMANO TIENE RETINITIS PIGMENTOSA ME GUSTARIA SABER MAS INFORMACION OJALA NOS PUDIERAN AYUDAR MUCHAS GRACIAS QUE DIOS LOS BENDIGA
Gracias Veronica. Más información sobre la retinosis pigmentaria se puede encontrar aquí: http://www.blindness.org/index.php?option=com_content&view=article&id=50&Itemid=67 y aquí: http://www.blindness.org/index.php? opción = com_content & view = categoría & id = 65 & Itemid = 121
I am a 54 year old female with RP. I still have most of my vision and am still active and driving. I would be interested in attending any clinical trials out there that might help me keep my vision. I would love to hear from someone. Thank you.
Hi Christina, thanks for your interest. If you are looking for clinical trials for the treatment of RP, visit http://www.clinicaltrials.gov. The NIH maintains a listing of all ongoing trials here. You are able to search through them by entering in your disease information. It is great to hear that you are active and doing well, we wish you all the best!
Iam 32 years oldI have an autosomal recessive rp. My vision is good but every day i see even worse.i am from poland and here nobody knows about treatment for rp. Give me a hope for healthy eyes for my whole life.i am interested in attending any clinical trials.
Thanks for posting Marta, we understand what you and countless others are going through each day and we too are hopeful that the work being done will lead to much needed cures and treatments. In case you have not taken a look, we would like to direct you to the RP section on our website. This page offers all the most up to date information on RP (http://bit.ly/SKYi4L). This page can show you the latest research news on the subject of RP (http://goo.gl/OpfVl). If you are looking for particular clinical trials, we advise that you visit http://www.clinicaltrials.gov. This site maintains a list of all the clinical trials going on for RP and you can see them by searching for ‘retinitis pigmentosa’ on the site. If you have questions about them, contact information is available in each listing. Last but not least, if you have not visited our Facebook page, please do so at http://www.Facebook.com/FoundationFightingBlindness. We have a growing community of those who suffer from retinal degenerative diseases. This is a good place to share with and meet others who are going through similar experiences. We wish you all the best and hope this information helps you out.
I am 30 years old from Indonesia. I have a RP since i was born but diagnosed 17 years ago. Mine comes with not only perifer but also central damage.I still can use my eyes to see but everyday i feel it getting worse. I am interested too in attending any clinical trial
Hi Tommy, thanks for commenting and for sharing your story. We advise you to visit http://www.clinicaltrials.gov. There you can enter ‘retinitis pigmentosa’ into the site search field and you’ll be provided a list of all ongoing clinical trials for the disease. We wish you all the best.
Dear Sir
I am from Saudi Arabia had sent earlier medical reports you
I have two children girl the age of 4 years, and I’m two years old
To have the disease in the cells of the retina of the cones
Is there a cure?
Dear Sir
I am from Saudi Arabia
I am very happy for these good results
Thank you and I wish you success and appreciate you for your service to all mankind
I have two children have the disease, I hope to communicate with me
wseem55@hotmail.com
Shaden,
I suggest you contact a retinal specialist at King Khaled Eye Specialist Hospital in Riyadh to gain a better understanding of your childrens’ retinal disease and which treatments may be appropriate for them. The contact there is: Fowzan S Alkuraya, MD, at +966 1 442 7875 or falkuraya@kfshrc.edu.sa.
Dr. Jose Sahel in Paris, France, is working on a promising gene therapy called RdCVF for saving cones, but there are many other emerging options that may be suitable for your children, depending on their disease. The company MitoChem is developing a drug that shows promise for saving cones and rods.
If you can tell us the diagnosis — for example, retinitis pigmentosa — we can tell you more about potential emerging treatments.