Updates on Clinical Trials

There are numerous clinical trials and research projects happening all over the globe for Stargardt's in different scientific and technological fields giving us great hope for the future. Here are the current clinical trials taking place:

Drug Trial of ALK-001
Alkeus Pharamceuticals are conducting a phase 2 trial of an oral drug in the United States. A phase 2 trial looks at the safety of the drug, what side effects it may have, how long it stays in a person's body and the dosing required. This study will also look at whether it affects the progression of Stargardt's. The trial will follow participants over two years assessing these key factors. For more information click here. If you are located in the United States and are interested in finding out more about participating in the trial visit their website here.

Phase 1 Trial using Gene Therapy in the US and France
This is a gene therapy trial currently recruiting in the US and France. It is a phase 1 trial thus the main focus is on looking at the dose of the sub-retinal injection and the effects it may have. If you are interested in participating, the two centres involved are the Casey Eye Institute in the US and the Centre Hospitalier Nationale d'Ophthalmologie des Quinze-Vingts in France. For more information on the specifics of the trial click here.

Stem Cell Trials
The stem cell trial using human derived embryonic stem cells (hESC) I have previously mentioned is still in progress. This trial is run by Ocata over three sites in the US (California, Florida and Pennsylvania). The trial involves an injection of the stem cells into the retina. The researchers will be observing the participants over a 15 year period to monitor the progression of the stem cells, whether they become retinal cells, how this affects vision and if there are any long term complications. More information can be found here and here.

Investigative Research
There are a couple of research projects taking place looking at different aspects of Stargardt's Disease such as its progression. It is important that researchers continue to look at the how, what, where and why of SD to better understand the disease as we don't have a lot of information about it. This information can then be used for targeted treatments and even prevention of disease progression. These projects are always good to participate in because they involve little risk (unlike treatment trials) as they simply gather information, test results and images. The more participants these types of studies get the more information can be gathered and learnt about a condition. 
The National Institute for Health Clinical Centre in Maryland, USA, is currently recruiting for a natural history study of SD. If you are interested in participating check out their website.
The other project is the Inherited Retinal Degenerative Disease Register which is not only for SD but other inherited retinal diseases. This is run by the Foundation Fighting Blindness and more information can be found here.

What's all the talk about Optogenetics?

In the past couple of months there have been several news articles talking about optogenetics and its use as a treatment for eye conditions including Stargardt's, Retinitis Pigmentosa and Macula Degeneration. I hadn't come across the term so I thought I'd do some research into what exactly it is, since I am known to have to know everything about everything!

Optogenetics is a new technology, first discussed in 2004, using the ideas of neuroscience and microbial biology. The basic idea of optogentics is that light can activate and deactivate cells. It was observing algae that led to the lightbulb moment (excuse the pun). Algae would swim towards light, and scientists found a protein that was activated by the light and causing its behaviour.

Scientists then came up with the idea to remove the DNA (protein)  from the algae, use gene therapy (attach it to a virus so it can be put into other animals) and then inserting into the animal cell. Once it was in the cell, it would replicate and fill the cell with these light sensitive proteins. They could then manipulate the cells using different coloured light. They also had the ability to add these viruses only to certain cells.

This technology is being investigated for brain diseases but also for vision conditions. Below is a TED talk that explains the discovery of optogenetics, how it is being researched and describes its use for vision conditions. Basically what it says is that even though the photoreceptor cells are damaged, light can still get into the retina. Optogenetics installs cells to act as a 'camera'. The video shows an experiment they have done with mice that, I must admit, got me a little emotional thinking about the possibility of seeing things again!

Below are links to optogenetics and vision articles.

Medical Daily, 11 May 2015 

Science News, 15 May 2015 

PLOS Biologue, 7 May 2015 

Daily Mail, 11 May 2015 

Image source: https://www.sciencenews.org/article/how-rewire-eye

Latest News on Stem Cell Research

I know everybody has been keenly following the Ocata clinical trial using human derived embryonic stem cells to treat both Stargardt's Disease and Age Related Macular Degeneration. Ocata published a  press release on 31 March. Here are the main points:

• The Phase I/II study has been successfully completed on 38 patients with both conditions. This phase was to look at safety and dosing of the stem cells and has been reported to have no major risks or adverse events.
• The Phase II part of the study has been given the go ahead and will also be conducted in England as well as the United States. 
• The next phase will once again be looking at the safety and also the efficacy (ie if it improves vision) against a control group (used as a comparison for change). The effects of immuno-suppressant drug use will also be evaluated. 

What does this mean? 

It seems as though the trial is going well - since it moving ahead we can assume that there have been no major reactions from patients receiving the injections and that some benefit is being observed. The next part of the trial will recruit a greater number of participants to further evaluate what impact stem cell implantation may have on vision. The researchers will also try to find the best way of implanting the cells for greatest benefit.

There's still a little way to go before we will know for sure whether this treatment will work, although it is definitely looking positive at this stage. Generally a therapeutic trial will pass through four phases, each recruiting an increased number of patients.

I shall keep following and continue to update everyone!

Photo credit: https://www.pinterest.com/pin/387591111654602018/

Vitamin A and Stargardt's - Part 1

The only advice I was given when diagnosed with SD was that vitamin A was causing my vision loss and to not take supplements with Vitamin A. This totally contradicts the widely known fact that Vitamin A is essential for eyes. It's not that this fact is incorrect, it's that it doesn't wholly apply to SD. 

Since I love my science and research, I took it upon myself to spend my spare time reading every published article on SD and vitamin A to find out more about the mechanisms at play in the eye causing problems and what evidence exists to support these theories. The earliest article I found was published in 2008 and all used mouse models for investigations.

A paper published in Cell Death and Disease this year gives a good overview of the mechanism leading to vision loss and how Vitamin A is implicated. Essentially, SD is caused by an accumulation in the RPE of Vitamin A dimers (dimers are two molecules joined chemically), which are known as A2E (shortened version of the chemical name). Using an in vivo model, they found that increased A2E led to greater cell death. A word that always comes up when talking about SD is lipofuscin which is the yellow-brownish pigment deposits seen on a retinal scan used to diagnose the condition. Tying it all together, A2E derived from vitamin A is a retinal lipofuscin which is causing the damage and subsequent vision loss. These findings support earlier studies in mice such as articles n the Journal of Biological Chemistry and Investigative Ophthalmology and Visual Science which both looked at the effects of vitamin A, SD and mice demonstrating that higher doses of vitamin A led to increased lipofuscin development. 

Another paper in the Journal of Biological Chemistry also used a mouse model to investigate the effects of A2E and  also oxidative stress. It was found that A2E increased inflammation in the RPE, which is an important finding for prospective treatment solutions.

 

There are no studies performed in humans on the effects of vitamin A probably because it is not exactly ethical to get a group of SD patients and give them high doses of vitamin A and see whether they deteriorate! Despite this, the research is available to support that vitamin A is indeed causing damage in the eye and leading to vision loss. The continuing research has led to greater understanding on the different components at play and, no doubt, will help in the future to develop therapies. 

So now we know vitamin A is not our best friend, where do we go from here? Part 2 will discuss diet and vitamin A and how we can ensure not to overload vitamin A and contribute to the SD process.

Update on Stem Cell Treatment

If you haven't already heard, results from the phase I trial using human embryonic stem cells for patients with Stargardt's Disease and Macular Degeneration have been published in the Lancet, and the results are very promising!

Nine patients were treated from each disease which involved surgical implantation of the stem cells into the retina of one affected eye. The main aim of phase I trials is to test the safety of the intervention, so whether there were an adverse events or complications from having the stem cells implanted, and in this case whether the stem cells 'stuck' to the eye. The investigators also looked at whether there was any improvement in vision.

Excitingly, the results were very promising - there was no major adverse events (although some patients with Stargardt's developed cataracts but this was treated surgically and didn't affect vision after treatment), no rejection of the implanted cells, no abnormal tumour growth and it looked as though the cells remained functioning at follow-up (which was up to two years after initial implantation). To top it off, there was also objectively reported improvement in vision in the treated eye!

To put it in perspective, this is still early days and we won't be running out to get stem cells injected tomorrow. Although it is definitely looking like a very possible treatment in the future and in our lifetime! The next step is to proceed to a phase II trial which will include a larger number of patients and find the best dose (number of cells to be injected) to gain the best results. Further evidence of the effectiveness will be developed to show how much vision can be restored, if it is permanent, whether the implantation needs to be done in the early stages of the disease and many other questions.

This is extremely exciting and shows how amazing modern medical science can be. It can give us all a little more hope that potentially in the future we may be able to see better, and if not us, the generations to come who will unluckily have to experience the hurdles we have faced. 

For more information here are the links to the results and news reports:

Wall Street Journal

The Lancet

Update on Current Clinical Trials

It is an exciting time in medicine and especially for Stargardt's sufferers and others with inherited retinal diseases. Here is a summary of current trials:

Phase I/IIa study of StarGen (Gene Therapy)

This study is being conducted by Oxford Biomedica at two sites, Oregon Health and Science University (US) and Institut de la Vision (France). Recruitment was suspended earlier this year to investigate impurities in the substance. The study will resume in about three months. 

StarGen - Foundation Fighting Blindness

Sub retinal injection of hESC into RPE (Stem Cells) 

The phase I trial being conducted by Advanced Cell Technology is continuing. The second cohort was recruited in July. There have been no further updates since the last press release. 

Stem Cell Therapy - Advanced Cell Technology

Stem Cell Ophthalmology Treatment Study SCOTS

This stem cell study is using cells derived from autologous (your own) bone marrow which is then injected into the retina. The study is looking at whether there is improvement in visual acuity and visual fields. It is not only looking at Stargardt's patients but also patients with optic nerve diseases and other retinal diseases. The study is being conducted by the Retinal Associates of South Florida (US). This will be an interesting study to monitor.

Bone Marrow Stem Cells - Retinal Associates of South Florida

Safety and Tolerability of MA09-hRPE cells (Stem Cells)

This is another embryonic stem cell trial currently recruiting in Korea, conducted by CHA Bio and Diostech. The trial is similar to the ACT trial.

Stem Cells - CHA Bio and Diostech

Saffron Supplementation and SD

Another study currently recruiting is looking at the effects of saffon supplementation on Stargardt's specifically. The study is being conducted at the Catholic University of the Sacred Heart in Italy. The study is a crossover design meaning that each participant will receive the placebo and treatment for a period of time. I have personally tried saffron and feel as though my sight improved so I am looking forward to the results of this study.

Saffron Supplement Trial

ProgSTAR Natural History Study

This study is funded by the Foundation Fighting Blindness and aims to investigate the disease further and also follow the progression of the disease. This information can then be used in future intervention trials. This is a multi centre trial across the US, UK and Germany. This would be a great study to participate in if you are local to one of the centres. 

ProgSTAR - Foundation Fighting Blindness

Natural History of Eye Diseases Related to ABCA4 Mutations

Here is another study looking at disease progression in Stargardt's . It is being conducted by the National Eye Institute in Maryland (US). To participate you must be at least 12 years old and follow up is over five years. 

National Eye Institute - Natural History Study

Novel Quantification Methods to Detect Progression in SD

This is another trial currently recruiting which is using a specific technique is learning more about the progression of Stargardt's. The trial is being conducted by the Kellogg Eye Centre in Michigan (US). This study is focusing on kids and teens (ages 5-18).

Kellogg Eye Centre Trial

High Resolution Retinal Imaging Study

This study is looking at the use of an adaptive optics scanning laser opthalmoscope AOSLO to take pictures of the retina. The aim is then to analyse these pictures to better understand Stargardt's. This study is also being conducted by the National Eye Institute. 

AOSLO study - National Eye Institute

Looking forward to seeing the results of all the trials.I will keep you all posted. 

Update on ACT trial

ACT recently announced treatment of a Stargardt's patient with 'better vision', as compared to the previous patients treated. It is very exciting following the trial progress and I can not wait to see the results.

The second patient treated had visual acuity of 20/100 (6/30) which is exciting as the trial is not only looking at the end vision stages but also the earlier stages, which is probably what I would be.

Here's ACT's press release:

Advanced Cell Technology

Looking forward to the results!

Bionic eye update

Bionic Vision Australia has had vast media coverage in the past week with there bionic eye prototype. They have inserted the device into the first totally blind patient and she has been able to see flashing lights.

Check out their facebook page for links to articles:

Bionic Vision Australia Facebook Page

And here is their website:

Bionic Vision Australia

Bionic Eye

Have a look at this recent video on the bionic eye. It's crazy how maazing technology can be.

Updates on Research

Blindness and visual impairment seems to be in the media quite a bit lately. I've gathered the most recent updates for you all to check out.

A study in the UK has successfully inserted implants into three patients retinas. The patients treated had Retinitis Pigmentosa and saw immediate results once the implant was in use. This website has an amazing picture of the implant in the retina and also explains the technology.

Retinal Implant


I've previously mentioned Advanced Cell Technology and their stem cells trials. The latest on the trial is that they were given approval to increase the dosage of stem cells and recruit further Stargardt's patients. This is great news. This trial is a phase 1 study which is looking at finding the maximum dose that can be tolerated and the safety of the technology. All is looking positive for stem cells!

Advanced Cell Technology


Gene therapy is another new treatment that is seeing exciting results. A US university has successfully treated 12 patients who have another inherited retinal disease - Leber's Congential Amaurosis (LCA). The treatment involved injecting a virus with copies of the 'normal' gene into the eye. The patients treated are reported to be able to make out shapes, recognise faces and read large print. This could also be a possibility for other inherited eye diseases.

Gene Therapy

Donate!

Dr. Terry Diamond, who works in the same hospital I work at, is running 7 marathons in 7 days across Australia next week. He is doing this to raise money for the disease Retinitis Pigmentosa, which is similar to Stargardt's in that it is a retinal disease that causes blindness. He hopes to raise $100,000 for stem cell research for the disease and related diseases.

Here's the link to donate and support!

The Eye-Con Run

Gene Therapy

I was kindly sent a powerpoint presentation from a university in the Netherlands about recent studies of gene therapy for Stargardt's Disease and another genetic disease. Coincidentally, I have been working with a dutch medical student (who is a great friend!) and we had some fun translating the presentation into English for you all to have a look at.

Please be mindful of the translation!

Gene Therapy Presentation UMC St Radboud

Fishies to help Stargardt's?

I was looking up the research on Stargardt's and found that a group were testing the effects of DHA (fish oils) on improving vision of people affected by Stargardt's. The results are yet to be published so I decided that I would do the experiment on myself, as taking fish oil supplements couldn't hurt and would probably benefit me in other ways.

The only thing is I hate fish and anything fishy. If I get a piece of grilled fish for lunch I ask the seafood shop for the most un-fishy fish (and everybody usually laughs at me). Whatever I get I still have to scrunch my nose while I eat it.

So I went to my chemist to look at the fish oil supplements, which I have been meaning to do for a while since I don't eat fish, and thought this was a good motivation. I'd looked up the amount of DHA that was needed and I'd have to take around 10 capsules a day. So the pharmacist recommended I try the liquid fish oil that was more concentrated and had a minty flavour.

It took me a couple of days to actually open the bottle because I was disgusted by the idea of having squished fish oil, and when I did I was horrified. It smelt of peppermint fish!! I sucked it up and tried to drink it. It would have to be the most disgusting thing I have ever tasted. I washed it down with orange juice but I could still taste the mintiness on my breath. I could even smell the stuff on my hands and it made me gag.

So as you can imagine, I haven't touched the stuff since. I think I might have to get some tablets instead. Or wait until the study is completed and hope somebody has invented fish oils that are actually edible!

Australian Inherited Retinal Diseases Register

I have previously posted about the Australian Inherited Retinal Diseases Register based in Sir Charles Gardiner Hospital in WA. I plead with anybody who hasn't yet registered to give them a call so that we can get a better idea of how many Aussies are affected.

I spoke to the Research Assistant, Ling, who kindly gave me the statistics they have collected so far. Currently there are 147 registered as being affected by Stargardts. Considering we have around 22 million people in the country, that is 0.000735% of the population (if my maths is correct). So let's spread the word and see if we can get all the Stargardt's people to register!

You can also donate your DNA to their DNA bank for future research. I have also convinced my mum, dad and siblings to give blood too (after I told my sister it was a needle in her rear end and she believed me!), so that in the future researchers can analyse the genetics of the disease.

For more information check out the website below or contact Ling Hoffman (08) 9346 2449.

IRD Register

Media giving vulnerable hope

The latest headline reads:

"Once they were blind, now they see. Patient's cured by stem cell 'miracle'"

This article was dated 24th January 2012 and posted on The Independent website (link below).

Are we not getting a little ahead of ourselves?

The article refers to the Advanced Cell Technology stem cell trials and their latest findings. As previously mentioned, they have treated two patients, one with Stargardt's, with RPE embryonic stem cells. This trial is purely for safety, and is not measuring the effectiveness of embryonic stem cells in the treatment of the diseases.

It is very exciting that of the two patients, so far they have not experienced any adverse effects - tumours or reactions. From what I have read it has been 4 months since the patients received the cells and they are doing well, that is to say are not doing badly.

Because the ACT trial is proving to be safe, another 2 Stargardt's patients will receive the stem cells, one in the US and one in the UK. This is great news for stem cell research.

The patients that have been treated have also stated improvement in their vision. ACT are not focusing on the visual improvement in this stage of trials and there is a link below to the published report.


So I am putting my skepticism hat on again and I am angry that the media can claim that this is a 'miracle' and 'the blind can see again.' These trials are for SAFETY and are not measuring whether stem cell treatment actually works! To say that the blind are cured is getting just a little too ahead of what is actually going on. ACT have stressed that these trials are safety trials and the media should pass the information to the public, instead of giving false hope to people like me with Stargardt's.

There is still a long way to go with stem cells. I will continue to wait in anticipation.

Below are links to recent articles about the ACT trial.

The Independent

Advanced Cell Technology

Australian Ageing Agenda

The Lancet

A few needles for a cure?

I have come across websites, videos and posts about acupuncture being used to treat Stargardt's Disease and it's sister Retinitis Pigmentosa. From my understanding, centres offering acupuncture as a treatment use a form called micro acupuncture and microcurrent stimulation (that just sounds scary). The first thing I thought of was a whole bunch of long, skinny needles being poked into your eyes. Thankfully, this torture does not exist (yet). The microacupuncure component involves needles in the hands and feet, and the microcurrent stimulation involves electrodes being placed in precise areas around the eyes. It has been claimed that this treatment has improved the vision of Stargardt's patients.

There's also a series of videos on YouTube from a Turkish doctor claiming he has treated patients using this technique. I must admit I am very skeptical as I have a very scientific based head and always need evidence for how such a treatment can work. For me, it's fine to post a a huge declaration that some radical treatment is working to cure visual loss, but you need to tell me HOW!? Isn't that the basis of knowledge. This is the result, and this is how it was achieved.

I am going to find a practice here in Sydney that offers this treatment and give it a go and see if it works for me. I also plan to do more research. Maybe the answer is already here?!

Australia's contribution to Stem Cell Safety

I have been following the Stem Cells Australia website and there has been a study looking at the safety issues of stem cell therapy. I think safety is incredibly important as it is great when a treatment looks to be working, but if things can go wrong further down the track it can be disastrous. The Universities of Melbourne and NSW were apart of the study as well as the CSIRO (Commonwealth Scientific and Industrial Research Organisation). They found that some stem cells after prolonged growth can have genetic changes (like that of cancer), but the majority will not change. The study states that if the changing stem cells can be eliminated it would reduce further complications down the track.

Safety is paramount when dealing with the human body. I think I'd be quite nervous being apart of studies and I admire the bravery of those who do. Safety studies like this help eliminate adverse possibilities and I think it is promising that there is so much research focusing on stem cells.

Here's the link to the Stem Cells Australia website, with further links at the bottom of their page.

Stem Cells Australia

Brain chips to help the blind!

I was doing my usual lunchtime news browse and found an article of interest on brain chips. Apparently, a Utah University has developed a silicone chip that implants in the brain to help cure nervous system disorders like paralysis and blindness. It has been successful in animals and they want to trial it on humans.

I'm not sure how helpful this would be for Stargardt's but they are saying it could cure blindness. Another option to be followed!

Here's the link to the news article.

Brain chips could aid the blind, paralysed

Aussie Stem Cells

There is a new Aussie initiative officially launched on the 10th November 2011 called "Stem Cells Australia". It is led by Professor Martin Pera in collaboration with various Australian Universities and Research Institutes and supported by the Australian Government. One aspect of their research is in human embryonic stem cells and their ability to become any bodily cells, which as we know is being trialled as a potential treatment for Stargardt's. They also aim to tackle ethical issues surrounding stem cells, which is sure to be an interesting debate!

As yet, there is no specific mention to Stargardt's or any ocular conditions, but it is a step in the right direction for Australia and for the possibility of treatments being made available here.

The website has a whole heap of information so check it out.

I am particularly looking forward to the ethical debates, since it is a potential treatment for Stargardt's and I know there are many groups opposing the use of embryonic stem cells.

Will keep all updated!

Stem Cells Australia

Another potential cure by Alkeus!

I have come across another company looking into a treatment for Stargardt's Disease. The company is Alkeus Pharmaceuticals in the US. They have created new compounds to treat Stargardt's as well as Age Related Macular Degeneration. So far they have tested these compounds on mice with success.

They have a page where you can register to be apart of future trials and also a Stargardt's registry. The trials will take place in New York so it is a good excuse for a holiday! I've posted the link below so check it out and register!

Alkeus Stargardt's Registry