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	RETINA E‑News
No 6 May 2008 Seeking a cure for Retinitis Pigmentosa, Macular Degeneration and allied Retinal Dystrophies
In This Issue · Now they can see! Gene Therapy success · IBM support for Internet users · AMD ALLIANCE INT Congress · OSSA Congress 2008 · Retina International Congress 2008 · Eye Care Awareness Month · Wake up Warm with Dis-Chem UEmail@rpsa.org.za Fax: 011 622 6277 Share call 0860595959 We’re on the web: www.rpsa.org.za An amazing retinal research partnership! 37 years of vision rewarded IBM support for the Disabled Future therapy for AMD? New look at radiation therapy for Wet AMD Professors Murray and Stulting retire from SMAB Retina International congress in Helsinki Eye Care Awareness Month. Interesting Links www.retina-international.org www.fightblindness.org www.amdalliance.org Link a t	RETINA E-NEWS to YOU SUCCESS IN GENE THERAPY TRIAL Retina South Africa is delighted to bring you details of the successful Phase 1 Therapy trials being conducted in both Britain and the USA. The initial results of a phase 1 gene replacement trial for Leber ‘s Congenital Amaurosis [LCA] was announced simultaneously in both countries at the end of April. LCA is a rare but devastating form of Retinitis Pigmentosa [RP] that affects infants and young children and leads to a lifetime of extremely poor vision. These exciting results received world wide media attention and in the UK Steven Howarth, a brave 18 year old interviewed on BBC TV told of his visual improvement. He was diagnosed at the age of 8 and his vision loss had progressed rapidly since then. A few weeks after a healthy copy of the gene involved, RPE65- was delivered to his retina, his night vision was markedly improved. The gene therapy consists of a single injection of a virus that has been modified to carry the missing genetic information to the retina. The leader of the research team at Moorfields Eye Hospital in London, Professor Robin Ali said: “Showing for the first time that gene therapy can work in patients with eye disease is a very significant milestone. This trial establishes proof of principle of gene therapy for inherited retinal disease and paves the way for the development of gene therapy approaches for a broad range of eye disorders.” In the USA results of gene therapy on three young adults aged 19 to 26 were reported. These young people who had virtually no vision can now read several lines on an eye chart and also see better in dim lighting. The American trials are taking place at the Children’s Hospital of Philadelphia under the leadership of Professor Jean Bennett. Gordon Gund, Chairman and co- founder of the Foundation Fighting Blindness said- Jean Bennett, M.D., Ph.D., lead investigator of the study, with her husband, Albert Maguire, M.D., the study’s lead surgeon. “I am overwhelmed with delight. We are delivering vision to people who were blind. This is the biggest advancement in the 37-year history of the Foundation Fighting Blindness. We have achieved an incredible milestone in curing blindness, and this advancement will help pave the way for the development of gene therapies to treat and cure a variety of retinal diseases including: Retinitis Pigmentosa, Stargardt disease, Usher syndrome and Macular Degeneration. This is a great day for the Foundation and all people affected by blinding retinal diseases." Researchers believe the vision improvement from a single injection will last for many years. In earlier laboratory studies, a single AAV-based gene therapy in more than 50 dogs born blind from LCA has been effective for more than seven years. [ News and photos’ from the BBC , RP Fighting Blindness UK and the Foundation Fighting Blindness, USA.] LCA IN SOUTH AFRICA LCA is a rare condition and was until now untreatable. We will do everything possible to bring these trials and treatments to South Africa. It is therefore critical that the exact gene mutation be identified in South Africans affected by this retinal condition. The condition is characterized by severe loss of vision at birth.  A variety of other symptoms may include roving eye movements [nystagmus], deep-set eyes, and sensitivity to bright light Retina South Africa funds a gene tracking project at the University of Cape Town to identify the genetic mutations of their members affected by LCA, Stargardt Disease and other retinal conditions. We need the support of all South Africans to make gene and other promising therapies available to all our citizens. IBM SUPPORT FOR OUR MEMBERS Retina South Africa gratefully acknowledges the support of IBM who are providing free software to help with accessibility to the Internet. Many web pages are not user- friendly for the partially sighted. Text magnification or voice programs are not always able to read web pages in a meaningful way. IBM have developed Accessibility Works- software to assist disabled internet users to access web pages. The software works in conjunction with the Mozilla Firefox Web browser which can be downloaded free of charge. Accessibility Works can then be downloaded onto a user’s computer and a tool box window allows the user to select tools. These include: · Speak Text –with variable speed · Banner Text- to reverse the Black/ White text or Background · Colours – change background colours · Spacing- To change line and letter spacing · Images – to show or hide images · Page Layout- to convert to a single column text · Key Board options- to convert multiple key strokes to sequential strokes and to add a keystroke beep Mouse functions, HUGE Curser magnification and a simple user guide are just some of the other features of the program. Video Clips written in Flash are not yet accessible. The program will be web based and so requires only 10meg of disc space. User settings are automatically stored for future use. Retina South Africa will be given an authorization code and we can then authorize our members to sign up as users on their personal password. Claudette Medefindt and Ebrahim Patel, CEO of Retina South Africa pictured with Mapule Ratshefola, Corporate Citizen and Corporate Affairs Manager of IBM South Africa and Zeyn Bagus, IT dept of IBM at the launch of Accessibility Works in Sandton. AMD ALLIANCE CONGRESS 2008 The annual congress and general meeting of the AMD Alliance International was held in Vancouver from the 9^th to the 11^th of May. One of the highlights of the congress was a report on the genetics of Age Related Macular Degeneration by Professor Jerry Chader from the Doheny Retina Institute, USC Medical School of Los Angeles, California. Dr Chader stressed the linkage between RP and AMD research. “What we know about one might be applied to the other. There are several similar mechanisms involved in all or most of the diseases” It was also important to note that although gene mutations have been implicated in over 70% of AMD cases, having a gene mutation may not necessarily mean that you get AMD. Although a gene mutation is at the root of the disease process, other biochemical mechanism(s) occur over time that results in the disease process we know as AMD. These may involve · Immunology/inflammation problems · Oxidative Damage · Injury/Wound healing response The immune involvement theory is justified for example by the fact that a genetic variation in the protein Complement Factor H (CFH) accounts for about 50% of risk of all AMD cases and this is an important regulator of the immune system. Probable oxidative damage has been suggested by the analyses of Drusen where many oxidative protein modifications were found. The normal healing response of the body may actually trigger the neo-vascularisation that occurs in “wet” AMD. Future therapy for Dry AMD : 1) When some photoreceptor cells remain and can be made to function better. Three potential treatments are Gene Therapy, Pharmaceutical Therapy and Nutritional Therapy. 2) When all or most photoreceptor cells are dead. Two potential treatments are Photoreceptor and Stem Cell Transplantation and the use of Electronic Prosthetic Devices. Clinical Trials are currently underway or are planned in all these areas for either AMD or similar retinal conditions. Current Treatments for WET AMD: 1) Antioxidants – old and new. 2) Anti-neovascular agents – Several drugs, such as Lucentis, have now been approved by government agencies to slow the formation of new rogue blood vessels. Future therapy for Wet AMD: 1) Combretastatin, that has been used as an anti-neovascular agent in cancer is now in a Clinical Trial for wet AMD. This drug can be delivered through the blood so is fairly safe. 2) GenVec is conducting a Gene Therapy Clinical Trial that delivers a growth factor [ PEDF] gene into the eye. Phase 1 of the trial is completed and has shown good safety results. 3) PEDF is a natural protein that has both anti-neovascular and neuron-survival properties. Thus, it could help to stop the formation of new blood vessels and also protect the photoreceptor cells. Despite problems with the vector that delivers the gene, this could be the first real success of Gene Therapy for a major disease. 4) RPE cell transplantation. The RPE cells are situated beneath the photoreceptors and the degeneration of these cells is a hallmark of AMD. Some researchers think that defects in RPE cells could precede other damage. A trial to test if RPE cell transplantation helps at the time of surgical extraction of sub-macular neovascular membranes in wet AMD is underway and good preliminary results have been shown. Dr Chader concluded with the following message: We can treat and, in some cases, maybe even cure diseases in many animal models of retinal degeneration. We already have at least one effective treatment for wet AMD although this is NOT a cure. Similarly, the AREDS antioxidants are good but only slow the disease process. Other Clinical Trials are starting so that more treatments are coming soon. These are expensive and time consuming….. but who can put a price on restoring sight? [Thanks to Dr Chader for making his presentation available to us. Any errors in the summary are the editors.] Christina Fasser, President Retina International, Dr Jerry Chader and Claudette Medefindt at the AMD Alliance International Conference held in Vancouver, Canada in May NEW RADIATION THERAPY? Dr Ram Palanki from Neovista gave an overview of a proposed new treatment for Wet AMD using targeted doses of Strontium 90 radiation together wih Lucentis. Radiation therapy for Wet AMD has been under investigation for many years but damage to surrounding tissue always posed a problem. This new therapy uses a disposable probe which delivers radiation to a restricted area of the retina. A vitrectomy is necessary to expose the damaged retina and a Lucentis injection is given at the same time and again after one month. Patient recruitment for a phase one therapy trial is underway and Retina SA is hoping that South African patients will be included in the trial. The AMD Alliance International is dedicated to promoting awareness, treatment and research into Macular Degeneration, the leading cause of vision loss in the developed world. The conference was supported by unrestricted grants from Novartis Ophthalmics, Genentech, Neo Vista and the Canadian National Institute for the Blind. The AMD Alliance website is a useful source of information for all AMD patients. Go to www.amdalliance.org OSSA CONGRESS 2008 Retina South Africa once again manned an awareness table at the Annual Ophthalmology Congress held in the Drakensberg, KwaZuluNatal from the 14^th to 17^th March 2008. The annual meeting of our Scientific and Medical advisory Board was also held at the congress and chaired by Professor Linda Visser. We are sad to announce the resignation of both Professor Tony Murray who has retired from UCT and Professor Andries Stulting who is preparing for retirement. They have both given years of active support to our cause and we are truly indebted to them both for their precious time and dedication. We gave a presentation to the Ophthalmic Assistants on the latest research developments in retinal degenerative conditions. Our table was as always well attended and our information booklets eagerly sought. This is always a wonderful opportunity to speak to Ophthalmologists, Optometrists and support staff about our work and to encourage them to refer patients to us. The next congress will be held in Durban in February 2009. Denise Jacobs and Claudette Medefindt at the RSA awareness table at the congress. RETINA INTERNATIONAL CONGRESS The 15^th RI Congress is being held in Helsinki, Finland from 30th June to July 6^th 2008 and RSA will be represented by James Cape, National Chairman and Claudette Medefindt, National Secretary. One of the key note speakers will be Professor Robin Ali leader of the British LCA Gene Therapy trial. Other speakers include many who have visited South Africa such as: Professors Joe Hollyfield, Jerry Chader, Elise Heon and John Flannery. Topics will include progress in the Artificial Retina, CNTF growth factors, Gene Therapy, Stem Cells and Anti-oxidants and Vitamin supplementation. At the International Congress held in Helsinki in 1984 Professor Shomi Bhattacharya announced the first linkage of an x Linked gene to Retinitis Pigmentosa. It is most fitting that we return to Helsinki 24 years later to hear first hand of the success of the Phase 1 LCA Gene therapy trial from his colleague Professor Robin Ali. See the next E-News for a full congress report . EYE CARE AWARENESS MONTH- 22^nd September to 24^th October The National Vision 2020 Prevention of Blindness committee has extended Eye Care Awareness to include World Retina Week the 22^nd September to the 28^th. The theme for Eye Care Awareness for 2008 as determined by the WHO is "Eyes on the Future - vision impairment in later life". RSA will use the week to create awareness of AMD and other retinal conditions. We need to lobby for effective treatments that are within reach of all retinal patients irrespective of socio – economic circumstances. WAKE UP WARM INITIATIVE BY DIS-CHEM The Dis-Chem Foundation, naming sponsors of our Ride For Sight have launched a campaign to provide warm clothing and blankets for the needy in South Africa this winter. Please support them by placing your contribution in the special bins that will be provided in Dis-Chem stores from the beginning of June. Please support our supporter.
NPO no 003-184	Retina South Africa needs your help to Fight Retinal Blindness