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Your nystagmus research questions answered – question 9

We asked a group of Nystagmus Network supporters what questions they would most like to put to nystagmus researchers. Then we found researchers to answer them.

Your questions were answered by Jay Self (JS), a Consultant Paediatric Ophthalmologist at University of Southampton and nystagmus researcher and Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher.

Question 9: How can we best improve the quality of life for those with nystagmus?

(HL) Empowering patients and their families, making sure they have the information they need to understand their condition and that needs to be passed on to their schools or their employers on how best to optimise their circumstances. These are all little things that don’t require a pill or a prescription, but make a big difference. If, say, a child is put into the right place in front of the whiteboard for their null point or given extra time or things are blown up or they’re given an i-Pad. All these little things make a big difference before we prescribe anything or do anything else.

Then there are little things like optimising your glasses, making sure they’re the best they can be, with tints if you need them or checking your vision in the dark if you have a retinal dystrophy, or checking whether bright light makes a difference. It’s actually about understanding all those little things. Then you can get on to other things like contact lenses, surgery for null point if necessary, trying treatments such as the ones we try for acquired nystagmus and for congenital nystagmus. Sometimes there’s prism treatment. There’s quite a lot of stuff that can be done in your local clinic that doesn’t require anything very special, but just requires understanding of the condition.

(JS) I would agree. A lot of it boils down to information sharing support and also doing all the normal stuff in a timely way. I totally agree with the glasses correction. It’s easy to put that to one side when people are stressed about getting the genes tested. You’ve got to do all the normal things we do in a timely way and in a bespoke, sensible way.

A final thing is a massive thing that the Nystagmus Network can do, which they have been doing for the last few years, which is really celebrating good news stories, which I don’t think was a massive focus a few years ago. If you speak to David Katz or Richard Osman they almost say that ‘nystagmus made me,’ ‘it’s made me do the things I’m doing and it’s actually given me super powers.’ You cannot push that message too much, especially when you’ve got new mums with little babies and they think it’s the end of the world.

The Nystagmus Network is enormously grateful to Jay and Helena who gave up their time on a sunny Saturday afternoon to answer questions from the nystagmus community so openly and fully.

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Your nystagmus research questions answered – question 8

We asked a group of Nystagmus Network supporters what questions they would most like to put to nystagmus researchers. Then we found researchers to answer them.

Your questions were answered by Jay Self (JS), a Consultant Paediatric Ophthalmologist at University of Southampton and nystagmus researcher and Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher.

Question 8: Are there drugs to treat other conditions that might also work with nystagmus?

(JS) There are drugs which are already used for conditions which have nystagmus as part of them. For example, there are spinocerebellar ataxias which neurologists would generally deal with. These conditions involve difficulty with balance, coordination and also sometimes episodic nystagmus. These conditions, which can be caused by genes, sometimes respond to drugs we would normally use for blood pressure. This is a classic example of why genetic testing is a good idea. You would never give a child a blood pressure tablet otherwise.

Secondly, it is really likely that there are drugs which we use already for other conditions. For example, there are drugs which we know cause increased pigmentation as a side effect. This is just asking to be looked at for people with albinism. There are lots of drugs like that and also other more complicated mechanisms. So part of the study we are doing is to bung a shed load of drugs that might have some benefit on these cell assays and see if they start to work and then follow them up.

So, I think the answer is absolutely, yes.

In response to a direct question there was some discussion about the use of cannabis, to which the conclusion was that anything which helps a person to relax, whether that be a walk or listening to some music can help dampen the nystagmus temporarily.

There was a further question about lifestyle and diet to which the answer was that certain retinal conditions are sensitive to levels of vitamin A in the diet, but in the case of nystagmus the advice does not currently go beyond normal guidelines for a healthy life style, based on available evidence.

The Nystagmus Network is enormously grateful to Jay and Helena who gave up their time on a sunny Saturday afternoon to answer questions from the nystagmus community so openly and fully.

The Nystagmus Network logo and the words nystagmus research

Your nystagmus research questions answered – question 7

We asked a group of Nystagmus Network supporters what questions they would most like to put to nystagmus researchers. Then we found researchers to answer them.

Your questions were answered by Jay Self (JS), a Consultant Paediatric Ophthalmologist at University of Southampton and nystagmus researcher and Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher.

Question 7: Can you tell us about gene studies and personalised medicine and how that might be a breakthrough for nystagmus?

(JS) The main development in genetics is being able to do loads of sequencing. That means finding out all the genes that lots of individuals have, what their particular spelling changes are and how they’re different to everybody else. That’s part of the 100,000 genome project.

The problem we have is then interpreting all that material. All of us will have a few million variants that are different from each other, that we shouldn’t really have or that we haven’t seen before. When you test 3.2 billion things you find all of this data and the question is that we haven’t all got a million diseases so some of them are causing things, some aren’t. It’s all about interpretation. This is where diagnostics comes in. We are getting better at that. It will lead to being able to group patients better. So when you then go on to test things or see what happens during life, or to see whether having funny toe nails really is related to nystagmus, you can start to look at groups and what these conditions are and then what you can do about them.

The second thing about gene therapy and gene changing, that absolutely is relevant. There are quite a few retinal conditions which cause nystagmus for which gene therapy is already going through. There’s one which is now NIHCE approved. This is going to be available through the NHS as one of the first ever gene therapies. It’s for a type of RP called Leber’s.

Gene therapy is a potential, but it goes a bit further than that. There are various drugs now which we know can change certain spelling mistakes. There are also some albinism changes that we’ve looked at before.

There are lots of other potential medical therapies which might change genetic outcomes. This is where this all might contribute, but we need to keep refining and refining the patient groups stage. There is no way any of that is going to work as a panacea.

It’s one thing to look at nystagmus as an end point. All this is about looking at the opposite end, at very specific changes.

Quite often, if you’ve got a single gene that causes a disease, some drugs might only work if it’s a particular type of spelling mistake in a particular part of that gene, if you happen to be male, etc. So you can end up with tiny numbers. One of the challenges is that originally gene therapy was reported as being able to correct spelling mistakes. But if you have 4,000 spelling mistakes you can’t develop 4,000 different gene therapies. So the idea now is to develop gene therapies that replace bigger chunks to treat more variations or more patients.

(HL) As we understand how the disease is developing as a result of each of the spelling mistakes, we’ll also understand how to target the treatment. It might not necessarily be gene therapy. It might be something as simple as a dietary supplement. We need the genetic test then we can say you can benefit from this combination of things. You need this and this to start with. We know this is how your disease will turn out, we know that this type of gene therapy would probably be pointless for you. The idea with personalised medicine is that each person goes in and comes out with a different set of advice and guidance or treatment.

The Nystagmus Network is enormously grateful to Jay and Helena who gave up their time on a sunny Saturday afternoon to answer questions from the nystagmus community so openly and fully.

The Nystagmus Network logo and the words nystagmus research

Your nystagmus research questions answered – question 6

We asked a group of Nystagmus Network supporters what questions they would most like to put to nystagmus researchers. Then we found researchers to answer them.

Your questions were answered by Jay Self (JS), a Consultant Paediatric Ophthalmologist at University of Southampton and nystagmus researcher and Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher

Question 6: What is your current research focus?

(HL) I’m mainly funded to develop the L-Dopa treatment for albinism. That is essentially in two parts. In the lab what we’re trying to understand is how L-Dopa influences retinal development and how a lack of that, which is what happens when you lack pigment, causes the retinal problems and subsequently the visual problems. Then we’re looking at how replacing that can help reduce the disability caused by the lack of L-Dopa. We’ve done this in albino mice and they’ve done really well.

The second phase is when we take this to a small pilot trail. We work with a group of children who have a diagnosis of oculocutaneous albinism. That is only one type of albinism. It’s quite specific, but it’s a start. What we’re trying to do is make the retinal development more normal in those children, so it prevents them having the level of visual disability they would have had.

(JS) We’ve also been focusing on genetics. We developed a platform so people could be tested. We’re also looking at why we don’t always get a result by working on lots of background genetics. One of the things we’re finding is that there are lots of different types of albinism but they all cross over massively. This is why there are so many patients with clear albinism who get a partial result, which doesn’t make sense. It’s because they’ve got lots of contributions from lots of different genes.

We’re also looking at some very early phased treatment. We developed some cell assays. These are little cells which have albinism. We can put these cells on plates and throw loads of drugs at them. These are drugs which might work for various reasons or even massive batteries of drugs where we have no hypothesis about why they would work, but because you can scale it up to 1,000s and 1,000s you can just get random hits. That’s how pharmaceutical companies develop new drugs for things.

We’re also doing a bit of work on outcome measures. In a lot of the clinical trials the question is ‘in what way has it helped nystagmus?’ Has it made the wiggle less? Have people tested that just by looking or just asked the patients ‘Do you think your eyes wiggle less?’ Have they done vision tests, bearing in mind that we know that vision isn’t really a very good test.

There are loads of things which patients have said have changed things massively for them, but none of the things we test are any better. So, we’re trying to develop proper outcome measures.

We’re also doing some work on questionnaire studies. Are you registered? Are you getting support?

The Nystagmus Network is enormously grateful to Jay and Helena who gave up their time on a sunny Saturday afternoon to answer questions from the nystagmus community so openly and fully.

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Your nystagmus research questions answered – question 5

We asked a group of Nystagmus Network supporters what questions they would most like to put to nystagmus researchers. Then we found researchers to answer them.

Your questions were answered by Jay Self (JS), a Consultant Paediatric Ophthalmologist at University of Southampton and nystagmus researcher and Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher

Question 5: What are nystagmus researchers currently focused on?

(JS) There are lots of different avenues. There is an element of ‘If you’ve only got a hammer, every problem looks like a nail’. What I mean by that is that I’ve got a background in genetics, so I will look at all the ways genetics can help with nystagmus. We both have a background in clinical trials, so we always look at ways we can test things. If you’re an eye movement person who’s done 30 years of eye movement research you’re always going to look for an eye movement avenue. There are different people with very different expertise. We really need to broaden the net, because there will be people whose research is based on a particular molecule and they’ll try and work out how that is relevant to nystagmus. The more people you have and the broader it is, what tends to happen is that things start to come together and you get collaborations. Or there’s a totally different avenue of science that none of us even knows about.

The work that the Nystagmus Network are doing to try and broaden it out with broad calls for research is a brilliant idea. You never know. You could get people coming in from a totally different angle which might seem crazy or we’ve just never heard of that technology and suddenly that’s the thing that unpicks one part of it.

There are lots of people doing lots of different things, but you can always get more. There are themes to the answer. Lots of people are looking at diagnostics. People like me from the genetics point of view. There are quite a few looking at the use of eye trackers to help with diagnostics. There are others focusing more on support and wellbeing. Then there’s the treatment group as well.

There are also people looking at other conditions, such as retinal dystrophy researchers. Nystagmus is a major part of their phenotype, but, if you asked the patients, they wouldn’t tell you they’ve got nystagmus, they’d say they’ve got RP or cone dystrophy, or whatever. The nystagmus is just considered part of it from their point of view.

When we go to American Nystagmus Network meetings everyone is joined together by their common nystagmus and actually nobody thinks beyond that or questions why their sight is particularly bad or another person’s really good. It’s because they’ve all got completely different conditions.

There are 3 different groups of patients with nystagmus. There are those with neurological problems of which there is a huge long list, not just the acquired nystagmus cases but also children born with various neurological conditions. Then there are the ones with significant eye problems. For example, anybody born with very poor vision will get nystagmus. Then there is the group where it’s a bit more mixed, where nystagmus is a part of it. In that group I include people with idiopathic nystagmus, subtle aniridic changes or albinism.

Research is still going on into the neurological causes. Neurologists would, however, probably be about 5 sentences in before they mentioned nystagmus, because it’s not considered the main part of the phenotype.

The Nystagmus Network is enormously grateful to Jay and Helena who gave up their time on a sunny Saturday afternoon to answer questions from the nystagmus community so openly and fully.

The Nystagmus Network logo and the words nystagmus research

Your nystagmus research questions answered – question 4

We asked a group of Nystagmus Network supporters what questions they would most like to put to nystagmus researchers. Then we found researchers to answer them.

Your questions were answered by Jay Self (JS), a Consultant Paediatric Ophthalmologist at University of Southampton and nystagmus researcher and Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher

Question 4: How much would it cost to cure nystagmus?

(HL) The grant that I got, which isn’t going to cure even a fraction of nystagmus, was £1.4 million and that’s only the beginning. It’s not going to cure it completely.

(JS) So that’s one small clinical trial. The L-Dopa study is going to work for a subset of a subset of people with albinism. It may well not work in all of them. This is the first clinical trial and usually you need a few clinical trials to get things going. So we are talking about millions and millions and millions of pounds.

The Nystagmus Network is enormously grateful to Jay and Helena who gave up their time on a sunny Saturday afternoon to answer questions from the nystagmus community so openly and fully.

If you would like to donate to the Nystagmus Network nystagmus research fund you can do so here.

Research into albinism could be good news for babies born with nystagmus

Dr Helena Lee from the University of Southampton was happy to announce this week the publication of a first paper from the OLIVIA study which shows the potential for L-DOPA treatment to improve the vision in albinism.

This means that the sight of newborn babies with ocular albinism could potentially continue to develop and improve with treatment.

Delegates at the Nystagmus Network Open Day later this year will hear first hand from Helena on the progress of her work with L-DOPA.

Meanwhile, you can read the article in full, here.