11 hours ago
Hot Off The Press
Check out below to see what new inherited retinal disease (IRD) therapies are in the pipeline.
There is a wide variety of goings on that I have found this time, so read on to be impressed.
New retinal grafting technique for age-related macular degeneration (AMD)
Retinal Pigment Epithelium (RPE) cells have been grown and grafted onto a biodegradable scaffold and then implanted into an animal eye with a new surgical technique. And this has worked. The transplanted RPE cells did their job of supporting and nourishing the photoreceptors. They increased the local blood supply and extended the life of the photoreceptors which is just what we want. Fab.
Short specific sections of DNA can act as molecular switches or “promotors”. They are implanted into the eye using viral vectors, and work by turning on therapeutic genes in target cells such as photoreceptors. Such promotors have been used in the past, but four new ones have been developed recently which seem to be more potent and precise than the previous ones. Additionally, the new ones work in both rods and cones and are even useful in mid to late stages of disease. Roll on the human trials.
“VIP tour” is an AI driven system which uses a camera and a smartphone app and deep learning to enable blind or visually impaired individuals to “explore, understand and relish” unfamiliar environments surrounding them.
It is all about promoting independence and the system is personalised and learns. It is also able to record, store, and share experiences. 33 people who trialled it were fans. The technology can only improve in the future. There will be many people looking forward to this exciting new system becoming commercially available.
Macular Telangiectasia type 2 (MacTel) is another slowly progressing IRD affecting the macula with no treatments available till now. Surprisingly considering the name, Mac Tel is caused primarily by degeneration of the nerves rather than the blood vessels.
The “ENCELTO” implant delivers a steady dose of a “ciliary neurotrophic factor” (CNTF) which is a natural protein which protects photoreceptors. The tiny collagen-based capsule containing genetically modified RPE cells is implanted into the back of the eye, and releases CNTF in a controlled, way lasting seemingly way longer than the trialled 2 yrs. It was developed in 2009 for other conditions, and an implant was found to be still releasing CNTF in therapeutic doses over 14 years later. This CNTF-releasing ENCELTO capsule was due to be approved by the FDA last month for MacTel, and the hope is that in the future it might also treat AMD, Glaucoma and maybe other diseases too. Sounds like a winner.
Instant coffee may damage your eyes, genetic study finds
Seriously?! Why are they studying instant coffee??!
“Study findings revealed a statistically significant genetic causal association between instant coffee intake and the subsequent risk of dry age-related macular degeneration (AMD). In contrast, ground coffee and decaffeinated coffee demonstrated no such associations”. The level of risk seems pretty uncertain, but as far as I can see, the study just reinforces that we are all better off eating real food rather than processed food.
Cholesterol deposits in the retina can be inflammatory and lead to AMD.
Apolipoprotein M (ApoM) is a molecule which helps to break down cholesterol deposits for disposal by the body. ApoM levels naturally fall with age but those with AMD seem to have extra-low levels. The idea is that boosting the level of ApoM in the body should help prevent AMD and other cholesterol related diseases. This has got as far as mouse models currently. Watch this space.
Choroideremia and RP studies
From the Foundation for Fighting Blindness:
A few observational and interventional clinical trials are underway for choroideremia, many in conjunction with retinitis pigmentosa (RP). ENVISION is a phase 1 clinical trial (NCT06460844) evaluating the role of intravitreal delivery of RTX-015 (Ray Therapeutics), an optogenetic gene therapy, in patients with choroideremia or retinitis pigmentosa (RP).
ABACUS (NCT05282953) is a phase 1/2 clinical trial evaluating the intravitreal delivery of KIO-301 (Kiora Pharmaceuticals), a gene-agnostic photoswitch, in patients with choroideremia or RP. Data from the trial showed that KIO-301 has the potential to meaningfully improve vision for treated patients, and the company has initiated a phase 2 ABACUS-2 trial (NCT06628947), which is specific to patients with RP.
Stem cell therapy is mainly being investigated in advanced disease.
Moreover, while the role of vitamin A modifications in halting disease progression is currently being studied, to date, there is no treatment available for affected patients.
The LIGHTHOUSE study gene therapy (ATSN-201) trial for X-Linked retinoschisis will be fast-tracked in the USA. This will be the first clinical use of their lateral spreading subretinal vector. They are expected to start enrolling adults and children in 2026.
The VISTA study gene therapy trial uses “laru-zova” to treat mutations in the RPGR gene, using viral vectors and full length RPGR proteins. Enrolment is now complete for their stage 2/3 trial and the first results are expected late next year.
That’s quite a lot this time folks.
Who knows what will pop up next? It’s all happening.
Till next time…
Cathy x
Guest writer – Dr Catherine Civil
My name is Dr Catherine Civil. I have been associated with Retina Australia since the early 2000s. At that time, they were called WARPF, or the WA Retinitis Pigmentosa Foundation. WARPF were raffling a car in a shopping centre, and it caught my eye because my dad and my uncle both had Retinitis Pigmentosa. Being a doctor and a parent, I had a particular interest and awareness, not just of the disease, but of the fact that there was a significant risk that I or my children or my relatives might have inherited it.
I turned up at an AGM and found myself on the Board and engaged in fundraising. I spent several years on the Board and met some wonderful people, and I was even Chairman for a couple of years. When I left, I started writing the “Hot off the Press” research update column for the newsletter.
I arrived from the UK in the early 1990s with my husband and twin baby girls to live in Perth for a year for a bit of sunshine and fun, and we find ourselves still having fun in WA 30 years later, and with a grown son as well.
