Navigation Links
MUHC researcher unveils novel treatment for a form of childhood blindness
Date:7/13/2014

This news release is available in French.

Montreal, July 13, 2014 An international research project, led by the Research Institute of the McGill University Health Centre (RI-MUHC) in Montreal, reports that a new oral medication is showing significant progress in restoring vision to patients with Leber congenital amaurosis (LCA). Until now, this inherited retinal disease that causes visual impairment ranging from reduced vision to complete blindness, has remained untreatable. The study is published today in the scientific journal The Lancet.

"This is the first time that an oral drug has improved the visual function of blind patients with LCA," says the study's lead author, Dr. Robert Koenekoop, who is director of the McGill Ocular Genetics Laboratory at The Montreal Children's Hospital of the MUHC, and a Professor of Human Genetics, Paediatric Surgery and Ophthalmology at McGill University. "It is giving hope to many patients who suffer from this devastating retinal degeneration."

Jrgen, a 44-year-old Swede who was born with LCA, has long dreamed of a treatment for his blindness. He was enrolled in the MUHC study, along with others from North America, Europe, China and Brazil, and showed the most significant improvements of all the participants. "The drug changed my life," he says. "My visual acuity and visual field increased significantly. I can now go by myself into a shopping center or to the airport and even take the metro, which were unthinkable for me before. I hope many people can access the drug in a near future."

The study involved 14 participants from around the world with LCA ranging in age from 6 to 38 years old. Their blindness was caused by either mutations in the genes RPE65 or LRAT, leading to a serious defect in the retinoid cycle. The retinoid cycle is one of the most important cycles in the human retina because it produces a molecule called 11-cis retinal which has the special capacity to capture light and initiate vision. Patients with RPE65 or LRAT mutations cannot produce this crucial molecule thus the retinal cells cannot create vision, and slowly die.

"By giving patients with RPE65 or LRAT mutations an oral retinoid intermediate (QLT091001) most patients' vision improved rapidly. We discovered that a certain portion of the retinal cells that were not working because of the lack of 11-cis retinal could be woken up," explains Dr. Koenekoop. "Contrary to what was previously thought, children with LCA and defects in RPE65 or LRAT are not born with dead retinal cells; the cells can simply go dormant, and they can remain dormant for years before they eventually die. The oral drug we tested awakened these cells and allowed patients to see."

Ten out of the 14 patients expanded their visual fields; others improved their visual acuity. The research team performed special brain scans of the visual cortex, which showed marked improvements in brain activities in patients who also improved in field size and acuity. More research will now be conducted to learn more about the retinal function in blind people in relation to dosage and methodology.

"This revolutionary breakthrough to restore sight in children who are blind shows that investing in vision research over the long-term really can make miracles happen," said Sharon Colle, President and CEO of The Foundation Fighting Blindness, the largest charity funding sight-saving research in Canada


'/>"/>

Contact: Julie Robert
public.affairs@muhc.mcgill.ca
514-843-1560
McGill University Health Centre
Source:Eurekalert  

Related biology news :

1. Researchers declassify dinosaurs as being the great-great-grandparents of birds
2. IPCC must consider alternate policy views, researchers say
3. Science and cookies: Researchers tap into citizen science to shed light on ant diversity
4. Researchers receive $12.6 million NIH grant to study genetics of Alzheimers
5. Researchers uncover new knowledge about our intestines
6. OHSU Knight Cancer Institute researcher wins prestigious early-career award
7. SDSC assists researchers in novel wildlife tracking project
8. Deforestation remedies can have unintended consequences, UF researchers say
9. Using geometry, researchers coax human embryonic stem cells to organize themselves
10. NIH-funded researchers extend liver preservation for transplantation
11. CNIO researchers discover more than 40 melanoma-specific genes that determine aggressiveness
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
MUHC researcher unveils novel treatment for a form of childhood blindness
(Date:4/11/2017)... , April 11, 2017 Crossmatch®, a ... authentication solutions, today announced that it has been ... Research Projects Activity (IARPA) to develop next-generation Presentation ... "Innovation has been a driving force ... program will allow us to innovate and develop ...
(Date:4/6/2017)... April 6, 2017 Forecasts by ... Document Readers, by End-Use (Transportation & Logistics, Government & ... Gas & Fossil Generation Facility, Nuclear Power), Industrial, Retail, ... Are you looking for a definitive report ... ...
(Date:4/4/2017)... NEW YORK , April 4, 2017   ... solutions, today announced that the United States Patent and ... The patent broadly covers the linking of an iris ... the same transaction) and represents the company,s 45 th ... our latest patent is very timely given the multi-modal ...
Breaking Biology News(10 mins):
(Date:8/18/2017)... ... August 18, 2017 , ... ... for the Semiconductor, MEMS, and Microfluidics Industries, announces the new Model 800E front ... more often in automated production mask aligners. OAI has already received and ...
(Date:8/16/2017)... ... August 16, 2017 , ... Tunnell Consulting announced today that ... ISPE Annual Meeting and Expo , to be held October 29 through November ... is “Driving innovation to advance patient therapies.” , The ISPE Annual Meeting and Expo ...
(Date:8/16/2017)... Philadelphia, PA (PRWEB) , ... August 16, 2017 , ... ... thought, they are much more closely connected than one might think. A Mesh ... Grizzly, will open at the University City Science Center’s Esther Klein Gallery (EKG) on ...
(Date:8/16/2017)... Mass. , Aug. 16, 2017  This year,s edition of the ... leader in life sciences workforce solutions, has made the list for the ... 5000 recognizes the nation,s fastest-growing private companies based on a set of ... 50, which includes the fastest-growing companies in the Bay State ... Inc. 5000 ...
Breaking Biology Technology: