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Curing Childhood Blindness: Major Steps Lead to Restored Vision

We are thrilled to announce a breakthrough milestone.

The Macula Vision Research Foundation funded gene therapy in young adult patients who had virtually no vision and now have both day and night vision – they can see! This achievement is a landmark event in the history of vision research.

These early steps are a positive sign that future treatment trials to restore vision in macular degeneration patients should also be feasible.

Blindness in childhood is a life-altering experience for the affected individual as well as for their family and for society. Hope for a cure has recently turned to reality for one type of devastating childhood blindness, Leber congenital amaurosis (LCA). LCA is a very severe early-onset blinding disease that can now be diagnosed by specific gene tests, and there has been successful research that could lead toward treatment. Now, treatment has occurred and there is a report of success in restoring both day (cone) and night (rod) vision using ocular gene therapy in young patients with LCA (Cideciyan et al., 2008).

Funding from the Macula Vision Research Foundation to Dr. Samuel G. Jacobson at The Scheie Eye Institute, University of Pennsylvania, Philadelphia, has for many years accelerated progress toward the ultimate goal of initiating treatment trials for LCA. During this time, Dr. Jacobson, Dr. Artur V. Cideciyan, Dr. Tomas S. Aleman and their colleagues have performed the requisite studies to define the type of LCA that is most amenable to treatment, which patients would be appropriate candidates for treatment based on details of their retinal examinations, the exact location in the eye-retina that would be most potentially beneficial to the patient if therapy was successful, and the exact ways to measure success or lack thereof in these severely visually-impaired patients. Macula Vision Research Foundation also supported many aspects of the necessary safety testing leading to such a clinical trial in patients.

In October, 2007, December, 2007, and January 2008, gene therapy occurred in young adult patients with the type of LCA. The specific LCA type was due to an abnormal RPE65 gene that had caused a blockade in a key enzyme cycle of vision. The treatment has been safe and safety testing will continue for at least 3 years. Visual benefit of the treatment was noted by the patients within a month after therapy and has persisted for at least 3 months. Specialized testing of the patients showed that the treatment improved day vision and night vision; and the dose of therapy was sufficient to make the key enzyme cycle active again.

This is only the beginning of the long road to try to restore vision to patients with blinding conditions. These early steps are a positive sign that future treatment trials to restore vision in macular degenerations should also be feasible. Macula Vision Research Foundation congratulates all the participating doctors, scientists and patients for their commitment and courage to move state-of the art science to human benefit.

Reference:
“Human gene therapy for RPE65-isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics,” by Artur V. Cideciyan, Tomas S. Aleman, Sanford L. Boye, Sharon B. Schwartz, Shalesh Kaushal, Alejandro J. Roman, Ji-jing Pang, Alexander Sumaroka, Elizabeth A.M. Windsor, James M. Wilson, Terence R. Flotte, Gerald A. Fishman, Elise Heon, Edwin M. Stone, Barry J. Byrne, Samuel G. Jacobson, and William W.Hauswirth.

Groundbreaking Vision Research Partly Funded by MVRF

The Macula Vision Research Foundation is thrilled to report on some extremely exciting and very meaningful information and to thank you, once again, for helping us to support groundbreaking vision research.

Researchers, funded in part by the Foundation, are injecting healthy genes into the back of the eye, to essentially replace bad genes and people who were blind are able to see.

Below is a link to the article, from the Ontario, Canada’s Peterborough Examiner tells the story of a young man who is one of three participants in a pioneering gene therapy United States National Eye Institute trial led by the University of Pennsylvania Scheie Eye Institute doctor and researcher, Samuel Jacobson, MD, Ph.D. and the University of Florida molecular scientist, William Hauswirth, Ph.D. The trial found success – just read the young man’s inspiring description of his new vision and what it means to his daily life. MVRF has funded Dr, Jacobson and Dr. Hauswirth for this project for many years and their work is truly making a difference.

We are sure that many of you saw the April 28th edition of the Philadelphia Inquirer and Good Morning America (links below) detailing the story of the special report “Envisioning a Cure” concerning the “tentative, yet stunning triumph in gene therapy giving sight to 3 who were blind.”

Gene therapy has also been used by researchers at The Children’s Hospital of Philadelphia to safely restore vision in three young adults with virtually no vision – now; they report they can see better. This research was funded in part by the Macula Vision Research Foundation through grants to Jean Bennett, MD, Ph.D.

These early steps are a positive sign that future treatment trials for macular degeneration should also be feasible.

The future is now. The opportunities are here. We hope that you will continue to support our research as we improve the vision of the future today.


http://abcnews.go.com/GMA/story?id=4739586&page=1
http://www.thepeterboroughexaminer.com/ArticleDisplay.aspx?e=1005744&auth=FIONA+ISAACSON
http://www.philly.com/philly/news/homepage/18324964.html

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Curing Childhood Blindness

A Recent Major Step Toward Restoring Macula Vision

Funding from the Macula Vision Research Foundation to Dr. Samuel G. Jacobson at The Scheie Eye Institute, University of Pennsylvania, Philadelphia, has for many years accelerated progress toward the ultimate goal of initiating treatment trials for Leber congenital amaurosis (LCA). Very recently, such a trial in one subset of these patients was initiated.

The trial is only the beginning of the long road to try to restore vision to children born blind. The goal of the current trial is to test safety but there is also the hope to enhance macula vision. These early steps are a positive sign that future treatment trials for macular degeneration should also be feasible.

Blindness in childhood is a life-altering experience for the affected individual as well as for their family and for society. Most forms of childhood blindness are not able to be cured but there is hope on the horizon for one type of devastating disorder. LCA is a very severe early-onset blinding eye disease that can now be diagnosed by specific gene tests and there has been successful research leading toward treatment.

We congratulate all the participating doctors, scientists and patients for their commitment and courage to move state-of the art science to eventual human benefit.

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