Research in MND: views and experiences

This section covers people’s hopes and perspectives around research and clinical trials, as well as experiences of taking part. It includes:

  • Keeping up to date with research
  • Thoughts and motivations for taking part in research and clinical trials
  • Worries and concerns around taking part in research and clinical trials
  • Experiences of taking part in research and clinical trials
  • Hopes for the future

Some of the research discussed is about MND generally, not specific to inherited forms, but people also talked about trials targeting certain gene variants.

Keeping up to date with research

There is a lot of research into the causes of MND, including genetic factors, and possible drug treatments and interventions (such as ventilation) to slow the disease process down or improve quality of life. So far researchers have yet to find a cure or a way to reduce the risk of the disease or prevent it completely.

Individuals had different approaches to seeking information around research in MND. Some didn’t want to know too much, had other things to focus on, or found information hard to find or difficult to understand.

Richard hopes there will be a “eureka moment” in MND research. Until then, he doesn’t follow it too closely as he doesn’t want to be “triggered”.

There’s a bit of me that almost just wants the eureka moment to be announced and then I can just go and grab hold of that. I almost don’t want to build my hopes up too much. It’s… I just, selfishly, yearn for that day where I open BBC News up on my way to work and it’s “Breaking news: MND’s nailed.”

So yeah, I don’t… It sounds perverse, doesn’t it, that I don’t stay that close to it given the impact that could potentially have on my life going forward, but again it’s… Because if I, whenever I dig around, I potentially find something that triggers something that I don’t want to be triggered… it’s almost: “Well let’s just wait until there’s something really concrete out there, then I’ll be very interested.”

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Others were interested to keep up with the science and wanted to know about what was going on. The most common types of research in MND are:

  • Randomised controlled clinical trials – The aim of randomised controlled clinical trials is to assess the safety and effectiveness of drugs or treatments, including new treatments. They aim to understand if drugs or treatments work better than current treatments, or nothing at all. Participants in these studies are put into different treatment groups, allocated by chance, and their results compared. One of the groups may get allocated to a placebo group and receive an inactive or ‘dummy’ treatment. In this way, researchers can be certain that any effects are due to the active drug. Participants do not know whether they are taking the active medicine or not until the end of the study. Some people may choose not to know which group they were in.
  • Cohort ‘observational’ studies – Cohort studies involve observing a group of individuals over a period of time. This sort of research may not directly or immediately benefit the participants but is designed to understand more about MND and find new ways to monitor disease activity and test future treatments. Participants in such studies may be asked to answer questions about themselves, give samples such as blood or spinal fluid, have specialised brain scans, and perform tests. Some studies may involve taking part just once and others may involve having tests at particular intervals over a period of time (for example, once a year). Depending on the design of the study, test results may or may not be shared with participants.

Thoughts and motivations for taking part in research and clinical trials

People often talked about wanting to take part in research and clinical trials to contribute to finding a treatment or cure for MND, both for their own family and others affected by the disease. Some people were hopeful that they or the next generations of their family could benefit. Another motivation was to feel useful and contribute to something bigger, especially where people felt in a unique position to help. For some it was a way of taking back some control from the condition.

Sarah is disappointed that in the 32 years since her father has died, there has been little progress in treatments for MND. She would like to take part in research to be “useful”.

I’ve asked to be involved with anything while I’m… I’ve basically said they can use my body as a guinea pig. I would like to be involved in a trial, if I have this disease, I might as well be useful.

And what are your motivations for wanting to or being willing to take part in research?

Because I’m a bit disgusted that 32 years have passed since my father had died, and the only medication available has a chance of increasing your life by two to three months, you know? …It sounds like things are quite hopeful, but I don’t know how soon it’ll be to get the treatments online that they’ve had some positive research for, so far.

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Taking part in research and trials was particularly important for some people who had received a positive pre-symptomatic genetic test result. Anthony said, “each of my kids has got a 50% chance, you know? So, your number one goal has to be to get a cure”. Jade’s approach is, “life isn’t always fair, and everything happens for a reason… I’ve just got to get on with it and… do what I can do, and hope they do find a cure, if not for me, for my children”. Lillian’s view was “I just feel I need to do something… being busy and being active and trying to help”.

To develop treatments, it takes people who are willing to take part in clinical trials. Lillian would be prepared to participate in the hope she might benefit, as well as contributing to a “bigger picture”.

I think in terms of trials, anybody who’s affected will have their fingers, toes and everything crossed, and I think it’s almost like holding your breath for the people, you know, if you’re a person who knows you’ve got that, the genetic problem, that if there’s a trial that’s trying to silence that gene, you’d really want to get that drug before you’re affected. It’s human nature; if there’s something that’s going to cure a medical problem that you could possibly have in the future, you would do anything to take that.

I know there are risks with trials, that it may, that’s why they’re very careful with trials because they don’t know when they silence one thing what it un-silences somewhere else, what other side effects there are. There’s a danger in trials of taking any test drugs.

But I think this is such a horrible illness I would be prepared, if it was there for me to take part in, I would volunteer myself to do it, because again, it’s a bit like doing GENFI and the cohort, that it’s not, it’s not all about me. My family, they’re still incredibly young and showing absolutely no signs of it. If they are affected this could stop it for them and it will take people who are prepared to take drugs in a testing phase to do it. It’s really important that people are prepared to do it. In a selfish way it could help me live a bit longer unaffected by it, but it’s a much bigger picture, there’s lots of people out there at risk.

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A few individuals who had received a negative pre-symptomatic genetic test were also keen to take part in research and had offered to be a control sample for family members.

Although she doesn’t carry the C9orf72 gene variant, Kelly wants to contribute to research to help others, including members of her family.

I’m still down as a control sample for anyone in my family who may need me to be, but yeah, as far as I’m concerned, my test may be negative, but my future is still going to be centred very much around motor neurone just for my other family members who are going through testing or my cousin who did test positive during the COVID lockdown as well.
 
I think she thinks I want to just move on and forget about it, I was like, “No, if you need anything, spinal fluid, anything”, even with this study, I said “Just pass them my number… if I can help you I will”.
 
I know how horrible the whole testing process is, and then to come out of that, I was really lucky to come out of it with a negative test result but not everyone is that lucky. And if something that they can test on me can help one other person, whether it be alive as we are in the present or 20 years in the future, if that can help at least one person then all of that was kind of… it hasn’t just come out of it and I’ve got a piece of paper to say I haven’t got a gene, I’ve helped contribute to a future study that could potentially help someone.

 

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Not everyone knew that research and trials were happening around inherited forms of MND, or had seen anything they would be eligible to participate in. Covid-19 has also affected research and some people had been unable to participate in studies because they were on hold due to the pandemic. Knowing where to find information about research opportunities was not always easy.

Adam wants to take part in research but feels the information on what is happening is “verbose and hard to get into”. He said, “I want to take part in anything, really, if it seems to be credible, obviously. I don’t need to know too much. It’s just like, what is the aim here? What is the greater good? What are the downsides?”.

Many people said they’d be very happy to be invited to take part in research, but so far no-one had approached them.

Worries and concerns around taking part in research and clinical trials

People had worries and concerns about taking part in research and trials, though not everyone felt these would stop them. Some people might be willing to participate in certain studies depending on what was involved. Concerns were based around:

  • Study design – people mentioned the possibility of receiving a placebo in a drug trial and questioned whether the treatment would be provided to everyone once the trial was over.
  • Knowing they might not receive any individual results could also be a concern.

Lizbeth was asked to have a genetic test as part of a research study, but she couldn’t live with not knowing the results. She waited until pre-symptomatic genetic testing for C9orf72 became available on the NHS.

It wasn’t they offered me a test, they asked me to do a research test, and there was nothing in it for me, and that sounds very cold, but they told me they take, they do this test and then I would not know the results, and I could not live with that. And I think, I know lots of people who can but I came home and talked to my husband about it and I said, “I will be forever wondering what the test was”, so I couldn’t do that.

I went to lots of meetings and they were quite intimidating where I, where I was sat in a room with five or six people and they asked me similar questions you’re asking me about my mum and everything. I remember walking out of one study you know, “If you were a bit more up front with your agenda maybe I’d have sat and listened some more, but you just need me to test, do the test for you. When you can do a test that’ll benefit you and benefit me then I’ll come and have a test”. And it took me a while then to go and speak to this one particular man in [city] who was, who was great, he was far more … it was a much better experience because it wasn’t all one-sided.

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  • Finding out one’s genetic status – Some people did not want to know if they carried a genetic variant linked to inherited MND and worried they might have to find out if taking part in research. Others pointed out that it can be possible for individuals to participate without knowing their own result. Usually, the research team also makes sure that they don’t know an individual participant’s genetic result, by only studying the results as a group, without names attached. This avoids the concern that the researchers might be hiding their knowledge of a participant’s test result.
  • Time commitment and practicalities – the impact of taking part in research in terms of the time it would take and the need to travel was a factor for some people, especially those living with MND. There were also other considerations such as the risk of travelling and having contact with others during the Covid-19 pandemic.

John’s decision on whether to take part in a clinical trial will be based on the trial design and the time commitment involved. He questions, “Is there something in it for me too?”

So I’ve learnt about clinical trials. You could say they’re a bit heartless but that’s the way they have to be. A proportion of any trial get given a placebo drug, and who knows who that would be. There’s also the issue of whether after the trial they will continue to give you the drug. As far as I can see, in these phase 1 trials, there’s no commitment to do that, which will affect my decision, ultimately, about whether to partake or not. 

So you’re yet to make a decision.

I’ve yet to make a final decision.

That’s interesting

Because it’s a big commitment, lots of trips to [city], both for the trial and for follow-up. And all that is eating into what’s left of a pretty finite life. So I’ve got to ask, is it all me being selfless or is there something in it for me too? At the moment, I’m not convinced that it’s, there’s enough for me in it. But I will go there, in [area of city], have the conversations, be screened, and then I’ll make a decision.

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  • Emotional impact – people questioned whether taking part in research could bring worries about inherited MND to the front of their minds or be upsetting.

Although she is concerned that taking part in research could increase her worries, Louisa feels the benefits would outweigh this. She wants to be around for as long as possible.

My concerns of taking part would be that it consumes me more than what it already is, like I would worry that doing that would mean that on a certain day at a certain time I was going to be reminded of it for as long as a research project would’ve gone on for. But I just feel like the benefits for everyone else outweigh that, don’t they? And I mean like for myself firstly, like I want to live as long as I can. I want to see my daughter get married, I want to – or not – or travel the world or do you know what I mean? There’s things that I don’t want to miss out on.

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  • Side effects or other harms from trial drugs
  • Physical discomfort of taking part in certain tests (e.g., lumbar puncture to obtain fluid samples from the spine)
  • Not everyone had concerns. Some people didn’t think they’d be in a worse position, particularly if they were already living with MND

Experiences of taking part in research and clinical trials

Some of the people we spoke to had taken part in research and trials around MND. Taking part had involved different activities, from cognitive tests, physical tests, MRI scans, answering surveys, giving samples including blood and urine and some people had had a lumbar puncture. A few people felt worried about having a lumbar puncture, but Lillian finds it is taking part in cognitive tests that makes her anxious; it brings her worries about inherited MND to the front of her mind and even though she knows she won’t be given the results, she questions if her tests will show any early symptoms or changes.

Calum describes the process of taking part in a research study. He felt confident doing the tests and valued having the opportunity to ask questions.

The research was just like being screened for anything really. I’ve applied for literally, quite a lot of medical testing throughout my life. I do gliding so I get tested for different things each year for medicals for that. So it was no different to having your blood pressure, your weight, your reflexes, testing those things. The difference is that you might have an MRI, but I’m lucky I had an MRI for a knee injury once so I knew roughly what it was and you had to do a few extra things whilst I was doing the MRI. Spinal lumbar puncture, that was my biggest concern, having something like that. Having done it, it was quite simple, gross to think about, but I don’t know. It’s a little bit off-putting to think I would have to do it again but I didn’t feel anything when I did it.
 
It’s just like going to the doctors and they want to take a look in your ear or something, it’s just plain medical testing, and if you don’t have a fear of anything like that then it’s just like normal really, I was very confident doing it.
 
How was your experiences with the researchers and the doctors you met there, and did they tell you about what the study was aiming to do?
 
Yes, all the way through, they sit you down, brief you and ask you, and then you’re with them throughout the whole day. So the one guy that was taking me to each test, or doing each test, I could ask any questions throughout the day and my partner could, so, yeah, things were quite simple. Definitely beneficial without a question, to have somebody that’s primarily fighting or researching against a disease, to be able to ask them questions is invaluable.

 

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At the time of her interview, Dani was involved in a clinical trial targeting the SOD1 genetic variant. Taking part involved being given a drug every 4 weeks through lumbar puncture (either the active drug or a placebo) and being monitored for side effects and changes in symptoms. Dani felt “really well looked after” and enjoyed the study visits.

Being part of a trial gives Dani “a reason to keep going”. She has a hunch that the trial drug has delayed the progression of her symptoms and hopes it might become available to help others.

It hasn’t cured anything, but it’s certainly delayed progression. Well, it certainly has for me. And I’ve been on it three years. It’s quite a big commitment, to go over to [research centre] every four weeks, but they’re all just lovely and yeah. It’s given me probably a reason to keep going. Maybe that’s a clue, the fact that I know that I’m on this trial and, and it’s for my kids as well, my girls, I mean one of them could – both of them could have it, I don’t know. But at least now if they get the slight sign, they can get… once this is licensed and people can have it, you could have it right from the first symptom if you’re tested for the SOD1. If you think you might have it, you could go and get tested. Unfortunately for me, it wasn’t around at the beginning, but there are people on the trial who are still walking around because they got it quickly. 

But I don’t know where it’s going to go, I don’t know. You know, they’ll have to find another way of administering it because I can’t have a lumbar puncture every four weeks for the rest of my life. And it’s very expensive, [biotechnology company] paying for all of this. But maybe they’ll licence it and it will be available say in [city] or somewhere, so I could go locally and have it. Or maybe they will have some kind of way of administering it through, they’ve suggested like having something inside you that you can just pump into yourself, in your head or something, I don’t know. But I consider myself a pioneer as far as this is concerned, and it’s exciting, you know.

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People who had taken part in research found value in participating. Lizbeth took part in a study and said, “I felt like I was taking back some control of my life then, I was doing something about it rather than letting it happen to me”.

Having lost family members to MND, Karen finds it “comforting” to take part in research; “you feel that you’re doing something to help”.

It’s quite comforting because you feel that you’re doing something, you’re doing something to help yourself and other people. Having watched people die from this disease you know, you, as I personally feel that anything I can do to help other people who are suffering from it as well as just, as well as also obviously helping myself and my own family, I just feel that doing something is better than just doing nothing really, and that’s what motivates me to do it.

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Hopes for the future

People were hopeful that there will be a treatment or cure for MND in the future. JW summed up, “The dream is that they can prevent it ever happening. The second dream is that they can cure it. The third dream and the least, but would still be lovely, is that they can introduce some form of relatively straightforward way of delaying it. In that order”. Other people also felt hopeful that people with inherited forms could be among the first to benefit, and emphasised developments in gene therapies.

Harriet has faith that treatments will be developed to slow progression in inherited forms of MND and is confident that eventually there will be a cure.

I genuinely have, like I have faith that that will be the outcome for C9orf72. Yeah, I feel quite, I feel quite… I just, I can’t believe that they’d be where they are today in 2021 and by 2041 they haven’t, with all the other technologies and things that are already starting to emerge will probably… it won’t be what they’re working on now that is the cure, it’ll be something that comes to fruition in the next few years.

But what I hope for now is that there’s some positivity and it does something, whether it just slows it down, but it can help those because I’ve got 20 years but there are all those many thousands of people that are living it today, tomorrow, next year. So I feel fairly privileged in that, in my position that I’ve got time on my side, and I really feel like – and I don’t know if these are probably more my husband’s words, but like he said, he said it to me today because obviously with this coming up, yours and my chat, like we were talking about it over lunch and like he was like, “All we need is time” He, “I’m confident that if we’ve got enough time there will be a cure by the time you need it”, basically.

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For people living with the disease, this was particularly urgent. David said, “my challenge is can I survive long enough to experience the benefits of the research into my genetic mutation… I don’t know”. A similar feeling was described by some people living with an increased risk of developing MND, who felt hopeful that a treatment would be developed in time to benefit them, or at least the next generation of their family, if they should develop symptoms. Lillian said, “it’s almost like holding your breath”. Whilst it could be exciting to hear about research progress it could also be difficult to think, “why couldn’t it happen when my mum was alive?”.

For some people, a treatment or cure still feels “a long way off”. They pointed out that the process of testing and approving treatments takes many years, even if effective, which could be frustrating. A few people felt that MND research had not been given enough priority in the past. However, people felt positive about the momentum of MND research and progress in understanding the disease. Mary said, “it does look a bit more positive than when my dad had it…They seem to be really pushing it forward now”.

You can read more about attitudes to taking part in biobanking and clinical trials, including the views of the general public and people affected by a range of conditions.

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