Newsletter Draft Autumn 2023

Greetings! Time has flown by this year for us! We at Retina International hope that this year has brought forth positive changes for your prospective organisations. This year for us has been met with important challenges while creating different perspectives for us as we keep working for a more accessible world for people with visual impairments and other marginalised communities in the disability context.

We have been working diligently on our projects for next year 2024. This newsletter will give you a brief update of us and will also be featuring what some of our member organisations will be working on for the end of the 2023 year.

This year at Retina International has been spent working hard to deliver you the best tools to advocate for retinal health care.

Farpe:

Fundación FARPE in Spain celebrated World Retina Day on the 24^th of September by launching their campaign “Lights that inspire: Spain illuminating retina” where many organisations participated by lighting up their buildings to the colours green and blue to celebrate World Retina Day. There is a link below to look at pictures that were taken.

 

https://www.retinosisfarpe.org/primeras-fotos-del-dia-mundial-de-la-retina-24-de-septiembre/

 

Moreover, FARPE participated in the 99^th Congress of the Spanish Ophthalmologic Society. For more information click on the link below.

 

https://www.retinosisfarpe.org/farpe-y-fundaluce-en-el-99-congreso-seo/

 

Usher Syndrome:

Usher Syndrome Data Collection Program
The Usher Syndrome Coalition has partnered with RARE-X, a Global Genes initiative, to build a data collection program (DCP) for those living with Usher syndrome. This program will help to accelerate research into new drugs, therapies, and devices through voluntary participation. RARE-X takes on the DCP’s hosting, governance, and security duties at no cost to the user or patient advocacy organizations. The goals of the new platform include:

• Provide individuals with Usher syndrome the opportunity to participate in clinical trials
• Inform researchers how Usher syndrome changes over time
• Collect quality data for use in clinical trials
• Speed up the time to get treatments to those living with Usher syndrome

The Usher Syndrome Data Collection Program (USH-DCP) complements the Usher Syndrome Coalition’s USH Trust, which connects the global Usher syndrome community with each other, information and support, and researchers working to develop treatments. The two serve different purposes: the USH Trust is a simple contact database exclusively for those with Usher syndrome worldwide; the USH-DCP captures detailed health and medical data, connecting the community with research efforts, clinical trials, and treatments. Here is the link to join the Usher Syndrome Data Collection Program.

 

Retina Bulgaria:

As of July 6^th

Rare Diseases Bulgaria(RDB)  – the alliance of the organizations of people living with rare diseases in Bulgaria – is accredited for a National Rare Diseases Alliance by EURORDIS and is stepping int the role of the Bulgarian representative in the Council of the National Alliances. Retina Bulgaria is among the founders of RDB. Dr. Petia Stratieva, Retina Bulgaria Chairperson, is the elected Chair of RDB and is going to participate to the Council of the National Alliances of EURORDIS.

 

On September 14^th Retina Bulgaria has conducted a round table discussion on the Patient Journey with IRDs. Patients with IRDs, genetic specialists, retinal and neuro-ophthalmological specialists have taken part to the discussion. As a bench mark the patient journey in Slovenia was presented by prof. Marko Hawlina, the Head of theERN-EYE expert center fin Ljubljana, Slovenia.

 

Retina Bulgaria has organized an online meeting On September 19^th between the Bulgarian ophthalmological and genetic specialists with a potential and interest to join the ERN-EYE and the ERN-EYE management.  The ERN-EYE work and priorities have been presented by Prof. Helene Dolphus – the ERN-EYE Coordinator from the University of Strasburg and by Dorothee Leroux – ERN-EYE Project Manager.

Russell Whiller, LHON Society UK has provided important insights about the role of the patient advocates. Prof. Silvia Cherninkova, the Head of the 1^st and only authorized by the authorities’ expert center in the rare eye diseases field – the LHON expert center – has presented the work of the center. Prof. Radka Kaneva – Head of the Center for Molecular Medicine at the Medical University in Sofia has presented the achievements in the ophthalmo-genetics. The opportunities for having some Bulgarian HCPs as supporting partners in the ERN-EYE were discussed.

 

A” Know Your Code” educational campaign is ongoing among the online IRDs patient society, organized by Retina Bulgaria.

 

On September 28^th was the final event of the “Share, care, cure” project led by Retina Bulgaria.

https://rare-diseases.retinabulgaria.bg/

 

Fighting Blindness Ireland:

Watch/listen back: Research Webinar on Age-related Macular Degeneration (AMD)

 

On September 20, our free Research Webinar on Age-related Macular Degeneration (AMD) took place, and you can now watch/listen back to the webinar here.

The webinar focused on the below:

• The current clinical care for AMD

Mr. Tomás Burke- Consultant Ophthalmologist specialising in Medical Retina, Uveitis and Cataract, at Mater Misericordiae University Hospital and Mater Private Hospitals, Dublin

• Sports and physical activities for people living with AMD

Sean Poland- Education, Training and Participation Coordinator at Vision Sports Ireland

• The counselling and support groups Fighting Blindness offers for people living with AMD

Marta O’Connor- Head of Support Services, and Kathryn Sinnott- Insight Groups Coordinator, Insight Department, Rachel Bermingham- Research Manager, at Fighting Blindness

 

For more information about our Counselling Services and New Support Group for people living with AMD, we have produced an informative leaflet in Word Format here and in PDF format here. If you have any questions related to the above webinar, please email us at research@fightingblindness.ie

 

Luxturna now reimbursed in Ireland

 

The NCPE Application for the reimbursement of Voretigene Neparvovec [Luxturna] – the first gene therapy to reverse sight loss for a small cohort of patients exhibiting the biallelic RPE65 gene – was submitted on 23 September 2019. Luxturna will have been in the reimbursement system 1,435 days [c47 months] on Monday, 28 August 2023. We noticed that around this time a note was placed on the HSE website to suggest that the reimbursement process is now approved.

Fighting Blindness did present to the working group examining the Mazars Report into the availability of new medicines and treatments in Ireland.

We now welcome the news that Luxturna [voretigene neparvovec] will be reimbursed through the HSE.

Fighting Blindness, Ireland’s leading sight-loss research charity, has welcomed the above news: “This is the first genetic treatment for inherited sight-loss conditions based around gene therapies,” said Finbarr Roche, CEO. “This is great news, particularly for children in Ireland that, up to now, faced the prospect of slowly losing their sight as they grew up. “For those adults who have seen their sight deteriorate – this would have once been regarded as a miracle; but it is science and research providing a treatment to stabilise and improve vision”.

 

Luxturna has been cleared by the EMA to treat Leber Congenital Amaurosis and Retinitis Pigmentosa – both caused by biallelic mutations to the RPE65 gene. Roche said, “We know that the therapeutic supports required to roll out the treatment are already in place. Ophthalmologists and medical support staff have been trained so that those with the RPE65 mutation can receive Luxturna within weeks.”

 

 

[Image description: An image of a loading wheel centred in the white graphic image of an eye. These are placed on an orange background]

Luxturna now reimbursed in Ireland

 

The NCPE Application for the reimbursement of Voretigene Neparvovec [Luxturna] – the first gene therapy to reverse sight loss for a small cohort of patients exhibiting the biallelic RPE65 gene – was submitted on 23 September 2019. Luxturna will have been in the reimbursement system 1,435 days [c47 months] on Monday, 28 August 2023. We noticed that around this time a note was placed on the HSE website to suggest that the reimbursement process is now approved.

 

Fighting Blindness did present to the working group examining the Mazars Report into the availability of new medicines and treatments in Ireland.

 

Fighting Blindness, Ireland’s leading sight-loss research charity, has welcomed the news that Luxturna [voretigene neparvovec] will be reimbursed through the HSE.

 

“This is the first genetic treatment for inherited sight-loss conditions based around gene therapies,” said Finbarr Roche, CEO. “This is great news, particularly for children in Ireland that, up to now, faced the prospect of slowly losing their sight as they grew up.

 

“For those adults who have seen their sight deteriorate – this would have once been regarded as a miracle; but it is science and research providing a treatment to stabilise and improve vision”.

 

Luxturna has been cleared by the EMA to treat Leber Congenital Amaurosis and Retinitis Pigmentosa – both caused by biallelic mutations to the RPE65 gene.

 

Roche said, “We know that the therapeutic supports required to roll out the treatment are already in place. Ophthalmologists and medical support staff have been trained so that those with the RPE65 mutation can receive Luxturna within weeks.”

 

Choroideremia Research Foundation Update October 10, 2023 

 

Since August, CRF has funded two new research awards:

• Luisa de Lemos, PhD, Champalimaud Foundation, 2023 Randy Wheelock Award Recipient-Pathways of Retinal Pigment Epithelium Degeneration in Choroideremia (CHM)
• Tomas Aleman, MD, University of Pennsylvania, Gene Therapy for Choroideremia: Redefining Cellular Targets and Treatment Windows

Over the past two years, CRF has provided 12 grants to researchers in 7 countries.

The CRF again participated in PRO RETINA Deutschland’s 5th Choroideremia EU Patient Symposium. The CRF co-sponsored the live translators for the event. CRF Director of Advocacy, H. Eric Hartman, presented an update on the foundation, current research, grants, and international patient support.

 

RI’s Francisco Albarracín, president of Fundación Argentina de Retinosis Pigmentaria (FARP), invited Eric Hartman to be a virtual presenter at the FARP‘s annual meeting on September 30, 2023. This was the CRF’s first participation in outreach to the CHM patient community of Argentina. Along with an update on current CHM research, Eric was also able to show the vast resources available through the CRF website with the built-in multilingual translations of Google Translate.

 

Over 50 attendees attended CRF’s Western US Regional Meeting at the Moran Eye Center in Salt Lake City, UT on Sept. 30.

 

CRF held two webinars with optogenetics companies Kiora and Nanoscope which were broadcast live and posted to YouTube at www.youtube/curechm . The next webinar is scheduled for 2 pm ET on Oct. 17 and will feature Dr. Tyson Kim who will share more information on the Science prosthetic eye in development. The Science Eye is a combination device that uses an optogenetic gene therapy targeted at the cells of the optic nerve (the retinal ganglion cells) in conjunction with an implanted flexible thin-film, ultradense micro-LED display panel inserted directly over the retina.

 

CRF will have an exhibit booth at the AAOpt (American Academy of Optometry) Meeting in New Orleans October 11-14, and will attend the AAO (American Academy of Ophthalmology) Meeting in San Francisco, Nov. 3-6. CRF will also have a virtual exhibit booth at the 2023 Blind Health Expo on Dec. 1. Over 100 exhibitors are expected to participate in the Expo, and registration for the online event is free at: https://accessiblepharmacy.com/expo-attendee/

 

Team CHM has 41 runners raising money by participating in the TCS New York City Marathon on Nov. 5. They hope to raise $120,000. Help them reach their goal here: https://curechm.salsalabs.org/2023-tcsnewyorkcitymarathon-teamchm .

 

We continue to coordinate regular group meetings with other global CHM allied organizations. This International CHM Coalition has held three meetings to date and is looking forward to collaborating on joint research and CHM awareness and education efforts. If you are interested participating, please email Kathi Wagner, Executive Director, at kathiwagner@curechm.org

 

CRF is now offering two monthly, internationally focused online discussion groups. These include:

a CHMer conversation group for patients affected by choroideremia, and a chat group for mothers of children with choroideremia. For more information or to register to attend these free programs, please email Cory at CoryMacDonald@curechm.org

 

Visit our website at www.curechm.org for more information and to sign up for our e-newsletter!

 

Usher Initiative Austria   LOGO 

From the Usher Community for the Usher Community – Selected News & Highlights 2023 

by Dominique Sturz, Patient Advocate Usher Syndrome & Rare Diseases

 

We feel honored to have had Franz Badura, Chair of Retina International,  at the Austrian National Congress on Rare Diseases in Vienna on October 6^th 2023: A special session was dedicated to the gene therapy for LCA RPE65 mutation, as well as to upcoming IRD gene therapies close to approval and expected to be available soon. Furthermore, a lunch symposium focused on IRD diagnostics and disease management. Franz Badura outlined the importance of access to early genetic diagnosis of IRDs and of implementing appropriate strategies at national levels as crucial element of RI’s and their members’ mission.

 

Image description: Dominique Sturz/Usher Initiative Austria, Franz Badura/Chair Retina Intl and Markus Ritter/Mu Vienna Eye Department IRDs on the roof top of the Austrian Parliament by night

Photo credits: Dominique Sturz

 

 

 

 

Launch of the video “Usher Syndrome – Do’s and Don’ts”

At the occasion of this year’s Global Usher Syndrome Awareness Day on Sept 16^th, ERN-Eye launched a video as part of their good practices series. The 2,5 minutes video gives guidance to Health Care Professionals on how to communicate with patients with Usher Syndrome in clinical settings in order to meet patients’ specific needs during medical exams and consultations.

The joint project of ERN-Eye team, ERN-EYE’s current ePAG chair and some healthcare professionals from the network started with a leaflet in 2021 and was followed by an abstract submitted and presented at ECRD 2022 (European Conference on Rare Diseases), which was published in the Orphanet Journal of Rare Diseases on June 2^nd 2023 (P40).

https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02707-4

Enjoy the video under the following link:  https://youtu.be/ToLPiFuaauI 

 

 

 

 

World Retina Day and World Retina Week in September 2023

Usher Initiative Austria sheds a light on the importance of early diagnosis of Inherited Retinal Diseases through genetic testing, since in IRDs such as Usher Syndrome only a genetically confirmed diagnosis is an accurate diagnosis. IRDs are actionable diseases and early genetically confirmed diagnosis should be accessible globally and follow the model of Usher Syndrome being genetically diagnosed in babies right after detection of a hearing disorder at newborn hearing screening.

 

ProQR’s Ultravursen program for USH2A Exon13 mutations still discontinued

On Sept 27^th 2023 ProQR has provided an update on their previously announced agreement with Laboratoires Théa being terminated.

 

Enrolling USH1B Patients for the Uni-Rare Natural History study launched by the The Foundation Fighting Blindness

Foundation Fighting Blindness launched Uni-Rare in September 2022, a Natural History Study for 1.500 people with Inherited Retinal Diseases such as Usher Syndrome in order to improve clinical understanding of IRDs and enhance development of potential therapies:

https://www.fightingblindness.org/news/release-unirare-study-374

Read more here: https://www.savesightnoweurope.org/foundation-fighting-blindness-launching-its-largest-natural-history-study-to-date-2/

 

On November 16 2022, an Usher Syndrome Data Collection Program for Usher syndrome individuals and families was launched by the Usher Syndrome Coalition in partnership with Rare-X: https://www.usher-syndrome.org/data-collection.html

 

 

Text: Merja Regnér Chairman of the Board, Retina Finland.

Retina associate in Finland has been very active during last six months. The association has arranged live and virtual events for our members. Here is some highlight from our activities.

Summer day in Tampere 4th to 6th of August. 

Summer day event were held at the beginning of August in Tampere.  There were 61 participants from different parts of Finland. We had planned interesting event agenda (theatre, boat trip, museum etc.) We were celebrating Retina Finland´s 50^th anniversary. On Saturday night we had a gala dinner, performances, music, and dancing.

 

 

Retina Day Event in Finland 30^th of September (Hybrid event) 

We organized annual Retina Day event as a live and a virtual event on Saturday September30th. We had 45 attendees live and 44 online. The event was hosted and recorded through Microsoft Teams. The recording is available on YouTube.

The agenda of the event included lectures from experts and time for questions. We also have pleasure to get presenter from Germany Steffen Berenbold, Okuvision and his presentation Transcorneal Electrical Stimulation
for Patients with Retinitis Pigmentosa. After the seminar we had Retina Finland´s 50th anniversary dinner and music. At the Retina Day event, our association remembered ten active members and partners of the association.