David Rose
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A British hospital has made the world’s first attempt to treat blindness with a revolutionary gene therapy.
Surgeons at the Moorfields Eye Hospital in London operated on Robert Johnson, who was born with a rare sight disorder known as Leber’s congenital amaurosis (LCA), which deteriorates with age.
Mr Johnson, 23, who had genes inserted into one eye, could see only outlines during the day and very little at night before having the procedure yesterday. He is one of a dozen young patients selected for the first clinical trial to test the new therapy, which has already proved successful at restoring the sight of dogs in tests.
It will be months before the researchers know whether their work has been a success, but it is thought that the therapy could be used to treat a wide range of inherited sight disorders in adults and children.
The LCA disorder is caused by a defect in a gene called RPE65, which prevents the light-sensitive layer of cells in the retina at the back of the eye from working properly.
Usually these are cells that detect light, but in Mr Johnson’s case they are damaged and prevent him from seeing properly.
The operation, conceived by researchers from University College London, involved injecting working copies of the defective gene into the back of the eye. Surgeons used a harmless virus or “vector” to carry the gene into the cells.
It is hoped that the replacement genes will enable the retina to detect light and eventually restore Mr Johnson’s sight.
The trial, funded by the Department of Health, involves 12 adults and children with LCA, for which there are currently no effective treatments.
During preliminary studies, the vision of dogs with the defect was restored to the extent that they were able to walk through a maze without difficulty; something they could not do before the treatment.
The purpose of the Moorfields trial is to find out how safe and effective the intervention is for humans.
The researchers hope that their work could lead to ways to treat more common sight problems, such as age-related macular degeneration, which affects about 250,000 Britons.
Most previous gene therapies have been developed in an attempt to treat different types of cancer.
Before surgery, Mr Johnson told the BBC that he had mixed feelings.
He said: “It’s very difficult to say how I’m feeling. I keep ranging from extreme nervousness to a bit of excitement.”
Professor Robin Ali, the lead researcher, based at the Institute of Ophthalmology, has spent 15 years working with colleagues developing the technique. He said yesterday: “I can’t help feeling somewhat apprehensive. There is so much riding on it and we have all been waiting for a very long time.”
His colleague, James Bainbridge, who carried out the surgery, said that there was no guarantee that it would be a success. However, he added: “It is very encouraging that we can deliver genes to an extremely fragile site in the eye without complications.”
The surgery required incredible precision. Robert Maclaren, the assistant surgeon, said yesterday that he was pleased with how things went. “We couldn’t have asked for a better result,” he said.
Professor Ali added: “There are many forms of retinal degeneration, meaning the use of gene therapy treatments must be individually developed, then tested in a separate clinical trial specifically for that disease.
“However, the results from this first human trial are likely to provide an important basis for many more gene therapy protocols in the future.”
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My husband has just become blind due to retinal detachment because of Diabetes I was wondering if this treatment would work for him.
Janet Gaitau, Melbourne, Australia
I want to know about Robert's health.Has his eye sight shown some improvement? I wish him good health and best of luck as thousands of people's eyesights are waiting for a positive result of Robert eyesight.
Nazia Khalid, Abu Dhabi, U.A.E
my great grandma went in for surgery to have her tear ducts opened, and they sliced through a nerve on both sides making her blind. They've said its irriplacable, but my grandma says that if the ruined both eyes completely then why does she still feel pain in them, and sometimes she can see light??
Monica Rodriguez , Merced, United states
I am soooo happy about the new gene therapy I am trying not to get too excited because of the many disappointment my daughter has gotten from her doctors. My daughter was diagnosed with con rod degenration at age seven she's now 17 and its getting worst she's diagnosed leaglly blind.
Rosemarie Lloyd, Georgia, USA
My father has been blind for the last 6 years due to alcohol poisoning. I was wondering if there is any treatment for him.
Nazila Blencowe, Brighton, England
My mother has being blind since I can remember and I am 40.
<br/>She has different problems like: glaucoma, retina detachment, etc.
<br/>I am not sure what really caused her blindness, she went blind overnight, but I would like to know if this new treatment can help her. Please let me know!
Erdmann, Elberton, USA
HI I AM 28 m diagonised with RP at the age of 17, before which i had a normal life, luckly my central vision is not damaged, its the tunnel vission. for last 5 years with help of Aurvedic Homeopathic treatments i could avoid further damages. would like to know your research would be able to benef
john, kochi, india
I have a 17 year old son who was hit in the right with a bottle rocket almost 3 years ago. He is totally blind in this eye. They tried to re-attach his retina twice, but were unsuccessful. Could this surgery ever possibly help him? God bless you all.
Phyllis Warden, Newbern, TN, USA
dear sir
i have to childrens with 14 and 10 years old , they having a problem in their eye nurve that cause a veary weak vision up to 1:60 please advise if there is any new could be done for them
regards
ahmed, abudhabi, U A E
I have 10 years old son with R.O.P had Vetrectomy surgeries in both eyes in where they were able to reattach parts of the reitina and gave him a good photo perception, Do you think that your research will be of a benefit to him. If so please advice us on what to do. Your research is our hope.
thx
Maged Elhayek, Riyadh, Saudi Arabia
my daughter was diagnosed 4 years ago as having a condition called,( stargardts disease).I HOPE ONE DAY YOUR TEAM MAY DEVELOPE A CURE. CARRY ON YOUR EXCELLENT WORK
JANE WYLIE, CARLUKE, SCOTLAND
Good on you Robert and also the medical team. I have a 21 year old son David who has rodmonochromatism. We have been hopeing and praying for something like this since he was a baby. This gives us and all of the families we have met with children with similar conditions so much hope.
Phil Rohlf, Rockhampton, Australia/Queensland
I am a mother of a 5 year old son diagnosed with day blindness, possibly cone dysfunction syndrome but no DNA sequencing to confirm yet. When I read the news I was flooded with emotion as I have always believed that if there was to be a cure of genetic eye disorders, this would be it. I think of you every day, hope and pray for you Robert that your sight will be restored and that life will improve for you in everyway you ever thought possible. If it is any consolation, the anxiety you are feeling is shared. Thank you Robert and the 11 others for taking this huge risk for yourselves and so many others. Accolades to the researchers, surgeons and sponsors! You give us all hope. Please post updates on the net for us to read. I know we have to wait for long term effects, but even just a tad more eyesight for a moment is something to be treasured. Take care!
Angela, Brisbane, Queensland, Australia
I am a 30 something male with RP eye conditions and come from a family with famale carriers and one of 2 brothers with this condition. I was one of the first to rercieve laser treatment in the early 80's for a detatched retina and welcome any further research or developments.
These advances are possibly life changing for many people - amazing stuff.
Mark, Wolverhampton, England
Brave boy Robert, you are doing it for all of us out there with RP and related diseases as well as yourself. We can all only hope that the future is brighter in every way. The very best of luck to you and your family and a huge thank you to all the pioneer doctors, researchers and surgeons spending their lives in this field so that we can have hope.
I am a carrier mother in an X linked RP family ,with carriers adversely affected by this disease as well as the RP boys
Harriet Capes, Adelaide & London, UK & South Australia
when i saw in the new what Dr,Robert did. i felt that is a mircal. because i know a family who has 3children and all of them blinds. maybe one day @ moorefield Hospital can bring their brights back. best wishes
Samira, Dearborn , Michigan
I hope with all my heart that this operation works . Any advances in this field are very welcome and always hold hope. My 5 year old son has rodmonochromatism and I hope that one day these advances will help him to see properly and for him to see colour would be wonderful. GOOD LUCK ROBERT.
Emily, West Midlands,
Keep up the good work Moorfields banking on you for the future All the very best to Robert. England mother of daughter with RP (ushers syndrome).
liz, wolverhampton, england
Good luck Robert - I remember you with fondness, and admire your spirit!
Duncan Baldwin, Preston, Lancashire
I have a 27 year old son who has Septo - Optic Dysplacea,. I would be more than willing to let the Doctors from Moorefield Hospital. try out this new treatment on my son (as would he ). The thought of my son ever been able to see is just amazing. I hope and pray that this treatment works for Mr Johnson, and many more like him.
Linda Pride, Hull East Yorkshire, England