E-News December  2017

 

Dis-Chem Ride for Sight 2018

The 30th edition of the Ride for Sight will be held in Boksburg, Ekurhuleni on Sunday 18th February 2018. This will be the 11th year that Dis-Ch em Pharmacies are the naming sponsor and we thank them for their tremendous support. The City of Ekurhuleni are proudly hosting the event and their support is also truly appreciated.

We have a special 30th Anniversary logo and there are exciting prizes and special offers for the participants. Once again a cash prize is being offered to the first blind Tandem pair on the 63 km event. Call the National office for more details.

See a promo for the ride at: https://youtu.be/9TVoS_YW7Ks

Gene Therapy Update

LEBER CONGENITAL AMAUROSIS [LCA]

The first ever gene therapy for Inherited Retinal Disorders [IRD] is on track to be commercially available in January 2018. The therapy is for the RPE65 form of LCA and early onset Retinitis Pigmentosa. No indication of price and where it will be available have yet been announced. It is estimated that RPE 65 accounts for around 16% of all forms of LCA. Patients tested have shown improvements in night vision, reading and full field light sensitivity.

ProQR have announced that the first patient with LCA10 has just been treated in their gene therapy trial. LCA 10 is the most common form of LCA and is caused by mutations in the CEP 290 gene. This phase 1/11 trial will treat six adults and six children. The trial has been awarded Orphan Drug Designation in both the USA and Europe, which means special fast tracking of the trial.

 

 

X LINKED RETINITIS PIGMENTOSA [RP]  

MeiraGTx, recently announced that the first patient in its gene therapy trial for the RPGR form of X-Linked Retinitis Pigmentosa (XLRP) was treated at Moorfields Eye Hospital in London.

Choroideremial trial

This x -linked condition is caused by a mutation in the CHM gene. A Phase1/2 clinical trial was recently completed. 2 of the 6 patients treated had more than a 15 letter improvement after 3 and a half years. Based on these positive results, 5 other trials have now begun.

Achromotopsia

MeiraGTx has also treated the first patient in the AAV-mediated gene therapy AAV2/8-hCARp.hCNGB3 for Achromotopsia patients with mutations in the CNGB3 gene, also at Moorfields Eye Hospital. This follows the safe completion of treatment of the first three patients in the low dose cohort in the CNGB3 clinical trial.

They are also conducting clinical trials into RPE65 gene therapy and are assessing the natural history of many IRD’s. They have received Orphan Drug Designation for their gene therapy trials.

Usher Syndrome trial

A Phase I/II clinical study, using UshStat in patients with MYO7A-associated Usher syndrome, is currently underway (ClinicalTrials.gov identifier: NCT01505062).

Stargardt news

The ABCA4 gene replacement therapy is being tested in a number of trials. Results from the phase 1/2 from the STARGEN trial are expected at year end and hopefully this will go into phase 3 trials soon after.

The Importance of a genetic diagnosis

 Do you know your gene mutation? The encouraging results reported above show just how critical it is to know precisely what gene mutation is causing your IRD. Contact us for information about how this can be achieved. Some funding is available for needy families.

AMD News

COMPLEMENT C3 INHIBITOR

In August, Apellis Pharmaceuticals, Inc. announced that its complement C3 inhibitor, APL-2, met its primary endpoint in a Phase 2 clinical trial (FILLY) in patients with geographic atrophy (GA) associated with age-related macular degeneration (AMD). At 12 months, APL-2, administered monthly via intravitreal injection, showed a 29% reduction in the rate of GA lesion growth compared to controls. With every other month administration, a 20% reduction was observed. Additionally, in a post treatment analysis, a greater effect was observed during the second six months of the study: a reduction in growth rate of 47% with monthly administration, and a reduction of 33% with every other month administration.

Toolkit for AMD

A global coalition of patient organisations concerned with vision health, aging and avoidable blindness led by Retina International, has launched a multi- stakeholder online toolkit designed to improve the understanding of Age-related Macular Degeneration – AMD.

Although awareness of this condition has improved over the past decade, the various stages and complexity of the disease are not well understood. Early, intermediate and late stage AMD, including geographic atrophy (GA) and neovascular AMD are complex conditions with differing signs and symptoms. Early diagnosis is critical to detect and treat the first signs of AMD successfully and to give all patients access to auxiliary aids and rehabilitation services that can improve their quality of life.

Scientific research into AMD is leading to a much better understanding of the condition and so it is important that the most up to date information is delivered effectively to all stakeholders through a trusted source. The AMD Toolkit has been designed for use by patient groups, researchers, clinicians and allied health professionals. See : www.Retina-AMD.org

 

Members News

CONGRATS TO ILSE CARSTENS [nee Hayes]

Ilse won the 2017 Woman’s Sportswoman of the year award (Disability Category) at the South African Sports Awards held in Kempton Park recently. Ilse has won two Paralympic and six world titles across the 100m, 200m, 400m and long jump, T13.

This summer’s World Para Athletics Championships was Hayes’ final competition – she will be retiring after the Championships.

Hayes has completed a Sports Science degree and honours in Pediatric Sciences.

In 2013, she was awarded the Order of Ikhamanga by President Jacob Zuma for her sporting achievements.

Ed note -Ilse has Stargardt Disease but has never allowed her vision loss to define who she is. She is an inspiration to us all. Congratulations.

 AN INSPIRING READ

Often friends, families and colleagues of partially sighted feel ill-equipped to help us in a meaningful and un-intrusive way. To address this Leanne Hunt has written a book called “What Every Blind Person Needs YOU To Know”. Based on her experience as someone living with Stargardt disease and her insights as a qualified counsellor, she shares what really matters beyond the usual practical assistance; finding out what your blind companion really cares about, striking the right balance between helping and backing off, and opening doors of opportunity where they are most needed. The book is available in both paperback and ebook formats, and can be ordered from Amazon at the following link: www.blindyetfree.com/books

Do you have an inspirational story to tell?. Please contact us.

Update from UCT

PROJECT REPORT FROM UCT

Professor Raj Ramesar is the Principle Investigator of the Retinal Research project at the University of Cape Town. This project is the cornerstone of our genetic research and is the only project of this type on the African continent. He gave a report back on the project to the December NMC held in Johannesburg. This amazing team of Gene Hunters have consistently achieved the most amazing results and all South African retinal patients are privileged to have them as partners in our search for treatments for inherited retinal disorders. They have DNA samples from 3386 patients and of these 341 families have a complete genetic result. 237 families stand to benefit from current gene therapy trials for the following genes: 6 RPE65; 8 AIPL1, 8 MYO7A; 197 ABCA4, 3 CHM, 1 PDE6A, 1 LRAT, 1 CNGA3, 2 PDE6B, 1 RS1, 9 RPGR. Added to these are the families with the CEP290 Gene mutation for LCA – a more common form than the RPE65 form. Are you one of these?

The budget for the RD project for 2018 is R1 023 450 000. Despite our aggressive fund raising in 2017 this leaves us deficit of over R100 000. Can you help? Every donation will bring us closer to our goal.

MORE AWARDS FOR LISA

Dr. Lisa Roberts, Senior Scientific Officer at UCT, was awarded the ‘Discovery Clinical Excellence Award’ for the 2nd best oral presentation at the 17th Biennial Congress of the Southern African Society for Human Genetics (SASHG) in Durban in August 2017. Lisa’s presentation described her PhD research findings, and was titled: “GENETIC ANALYSIS OF INHERITED RETINAL DISEASES IN INDIGENOUS SOUTHERN AFRICAN POPULATIONS”. More information about Lisa’s PhD project is described in the August 2017 E-Newsletter. She was also given a fellowship from the European Society of Human Genetics (ESHG) to attend the 5th Course in Eye Genetics in Bertinoro (Italy) at the end of September. This 3 day course is jointly organised by the ESHG, the European School of Genetic Medicine (ESGM), and the University Residential Centre of Bertinoro. The course is aimed at both clinicians and researchers, and gave an overview of ophthalmic genetics today. The course faculty combines international experts from all fields of ophthalmic genetics. Lisa received the award for best presentation at the course. Congratulations Lisa. Retina South Africa is proud to have been a sponsor of your work.  

Public Awareness

WORLD RETINA WEEK

This is observed in over 30 countries during the last week in September to create awareness of retinal degeneration. This year the theme in South Africa was “Help the Gene Hunters” highlighting the need for a genetic diagnosis for all patients with an inherited retinal disorder. Numerous TV and radio interviews were given and our press release was printed in numerous newspapers. Thanks to DSTV, ETV and Prime media who broadcast our moving new ads. Thanks to Glenn McGinn of Visual Feast for these great ads. Thanks to also to Bausch and Lomb who sponsored the printing of awareness material and the distribution costs of posters and pamphlets to Health clinics, Eye Clinics, Ophthalmologists and Optometrists all over South Africa.

DELL COMPUTERS

We were invited to talk to the staff of Dell Computers in Randburg on common eye conditions, eye care and retinal degeneration. We thank Rosie Louw, Ruby Kokkinis, and Laverne Kesten for organizing this and Dell for their kind donation to our research fund.

National News

A Special General Meeting was held on Friday 1st December in conjunction with the final National Management Committee meeting of 2017. The branch delegates approved the new constitution, which combines all our activities under a single constitution. This means a more democratic system where every member, in good standing, will vote for a national board. If your membership fees are in arrears and you have not requested a membership fee waiver you will not be entitled to vote future. Contact the national office to rectify this. The NMC also approved a fee increase to R200 per family for the coming year. The new constitution will empower small groups of patients within a community to become involved in our work on a manageable scale. Fund raising, awareness, support groups etc. without the onerous duties of establishing a full branch and committee. Are you interested? Call us please.

At the NMC Anton van Rooyen was elected Vice Chairman of the national body to replace Mariza Jurgens who is re-locating to London for four years. Good luck to them both.

We were generously hosted by the Courtyard Hotel, Eastgate. Thank you for the kind hospitality and the remarkable service, we recommend this hotel to any partially sighted or disabled guests.

Fund Raising

FURY MOTORS RAFFLE

Thank you Fury Motors, Mazda and co-sponsors for giving us the opportunity to participate in the Fury Motors Mazda car raffle. An amazing total of R1.85 M was raised by the participating schools, clubs and NPO’s. Thank you to Fury Motors’s Bernerd Blom for his passion and commitment to this project.

Retina South Africa sold a total of R60 270 worth of tickets with the Eastern Cape branch raising a wonderful total of nearly R20 000. Western Cape raised nearly R17 000, Gauteng North R14 000 and Gauteng sadly only R9 000. Congratulations to the winner of the Mazda 2 – Michelle Feben from Laerskool Oosterkruin and to our two Retina SA finalists who made it through to last 10 – Sue Le Roux from Cape Town and Tyron Naidoo from Gauteng. Thank you to all our ticket sellers. With your support we could double our proceeds next year. A book of ten tickets costs R100. Please contact our national office to participate.

GOLF DAYS

Retina South Africa were the beneficiaries of two corporate golf days in Gauteng recently. Thank you to Unitrade Management Services for their generous donation of R10 000 and to the Social Committee of the Standard bank African Region for an amazing R23400. James Cape, National Chair of Retina South Africa, accepted a giant cheque from Erika Taute from Standard Bank in Johannesburg. Thank you also to the private donors who contributed to the total. We are truly grateful.

 YOUR INVOLVEMENT

 Although the big donations make a huge difference every patient can assist in our fund raising efforts. Please ask you employer to consider us as a recipient for a CSI donation. Donations exceeding R250 are eligible, on request, for a Section 18a tax deduction.

Don’t forget to SMS “Dream” to 38267 – R10 per SMS and encourage all your contacts to do the same. Thank you if you have nominated Retina South Africa as a beneficiary on My School/ My Planet at www.myschool.co.za and remember to swipe your card at all the participating outlets. We are on track to raise over R35 000 this year so keep swiping.

 CIRCLE OF LIGHT

 This successful competition could be even more successful with your support. This year we have raised over R30 000 with only 120 supporters. You can participate by donating R250 per year to the competition and stand to win a cash prize of R500 every month. Contact Linda at the national office for more details or simply eft R250 to the account below. Please add your name and Light as the reference to your deposit. Please email your details so that

we can ensure that name is added to the monthly draw starting in January.

Please deposit membership fees plus any donations and fundraising contributions to:

Retina South Africa, Standard Bank, Bedfordview branch, Code 018305, Account number 020312164. For overseas payments the swift code is SBZAZAJ; or go to our website and donate now. 

Sunlight Protection

#protectkidseyes is an initiative started by an Optometrist David Sparrow and his wife who are concerned about children’s exposure to Ultraviolet light and the detrimental effect on their vison. David’s grandfather lost his vision to AMD and as UV exposure is a known risk factor for AMD, he is determined to protect his own son. With the help of Merchiston Preparatory School in Pietermaritzburg they have a launched a campaign to allow students to wear uniformed sunglasses made for the school.

For more information, please contact David Sparrow at:

http://yoursightmatters.com/children-wear-sunglasses and

http://www.opticiansallianceofnewyork.org/10-reasons-why-children-should-wear-sunglasses

Assistive Devices

AI APP FREE

Novartis is launching ViaOpta Hello, a facial recognition app that, using Microsoft AI technologies, aims to enhance the daily lives of people with severe visual impairment. Download now for free from the app store or :

https://www.viaopta-apps.com/Viaopta-hello.html

E SIGHT IN SOUTH AFRICA

by Heinrich Vermaak

I have just returned from Toronto and I brought back the E Sight 3 electronic glasses. I’m still learning to become proficient with them but they are a very advanced low vision aid. There are things I can now do that I could never do before, like watch TV from a reasonable distance or read to the last rows of a letter chart. At this stage, they are not everything I had hoped in regards to addressing mobility issues but it’s mostly because of my limited eye sight and that I need to get used to them. People with less severe Stargardt Disease and Age Related macular degeneration can see detail when moving around. ESight also has Optical Character recognition and costs $10 000.

Ed- Contact us if you would like more information from Heinrich. Heinrich has a pair of Bio-optics to donate to a needy child. Please send a short motivation to be considered.  

SPONSOR ACKNOWLEDGEMENT

BAUSCH AND LOMB

The production and distribution of this newsletter is sponsored by Bausch and Lomb via an unconditional educational grant to Retina South Africa. The views and comments expressed in the newsletter do not necessarily reflect the views of Bausch and Lomb.

THANK YOU BAUSCH AND LOMB FOR YOUR CONTINUED SUPPORT OF OUR WORK.

 

 

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