This is my main research page. For those newly diagnosed you might consider bringing yourself up to speed with the good, the bad and the darn right ugly by reading this page and my subsequent posts. I focus my writings on disease modifying research. I don’t typically comment on symptom control.
These writings are from a person living with MND but also someone who just happens to be a biological scientist.
My ongoing commentary update posts, which I have written, and intend to continue to do so, roughly every 2 months, are listed after this post with the most recent first.
Currently there is still only one drug available worldwide, Riluzole, which has been time proven to slow the disease (ie disease modifying), and this slowing appears minimal. I take it, and did not hesitate in being prescribed it. The effectiveness is minor, estimated at 10% extra lifetime compared to relative disease progression. Typically this is 2 or 3 months. However, there is plenty of evidence that indicate that it may have stronger effects the earlier taken and in certain individuals and in those with slower disease. There has been one other drug approved, but only in the USA, and you can read about it in my May 2017 Update. However, it does not appear that it will ever be approved in the UK. However, this is not a loss in my opinion as the data on the trials was very weak indeed. In fact just in May 2019, the pharmaceutical company involved withdrew its application to market. I’ll leave you to decide why?
Yes, nothing new since 2017, worldwide!
We have no cure or major therapy as yet and “core” research is the key. There is a vast amount of research effort worldwide and real progress is being made. Like many areas of technology, our understanding of human disease is accelerating. It can seem slow to us sufferers but there is a very strong forward motion now in 2021, despite the current corona virus pandemic.
The following summary is my view after being immersed in the subject for over 7 years. I expand on specific areas in the frequent posts (see links at the end of post for status updates) and I have also written some posts on subjects that will interest both the newly diagnosed, and others. These include the need for placebo trials, regulatory processes and statistics used and their interpretation. These are my the Devil is in the detail posts. Take a read of these, I hope you find them useful.
But let me return to my overview.
The evidence is now building that there is a huge genetic link to the disease. This may not be simple inheritance, but more complex linked genes/regulation. It is pretty well accepted that genetic susceptibility imposes a burden which with some environmental trigger(s) bring about the symptoms indicative of the disease. There is a lot of discussion on the internet regarding genetics and just what the environmental factors could be. However, it is important to understand:
1) The potential environmental factors are infinite
The word “environmental” is often taken to be exposure to x, y or z. However, it can just as well mean the ability of an individual to process metabolite a, b or c.
The point here is that the search space is everywhere. Arguments that ‘gut’ feel pollutants are a potential cause are interesting, but currently have no real evidence. It is more likely going to be a subtle, if not complex, series of factors. We would have probably found strong specific clusters otherwise.
Research studies on suspected environmental factors, e.g. blue-green algae, clusters on coasts, heavy metals, exercise etc have all proved false once put through full scientific rigour.
2) Genetic studies hold the key
What we are learning from genetics is changing year by year. Crucially the human genome, of which only 1% codes for proteins, is more complex than we ever believed. The other 99% of the genome is believed to take part in regulating the 1% that codes for proteins.
Please don’t be distracted by “wonder” cures, vitamin claims etc. etc.
Evidence is vital, and this is SCIENCE.
The media, and many scientific writers, in my opinion, do not always portray or relay solid scientific information, and also some ideas are grabbed by the media and stand out, perhaps unjustifiably. One of these, and perhaps foremost, is the concept of ‘stem cell therapy’. The very phrase seems to bring with it a sense of authority, reputation and public recognition, ie, what we now have to come to know as a sound bite! Another sound bite which you are likely to hear is Artificial Intelligence.
Stem cells are indeed excellent for developing in-vitro motor neurones (aka in a test tube) and are truly aiding groundbreaking research. However, “Therapy”, ie the use on a patient, is almost certainly not the way forward for MND/ALS. Motor neurones are up to 1 metre long, and delivering stem cells, directing them etc. is generally considered a non starter. However, the idea that an injection of stem cells could be a wonder cure still percolates the media and social media as a strong therapy hope.
Now, here in 2021, there are several “Experiments” with stem cell direct therapies globally and many are private biotech companies, just like many treatment investigations. This means that they have proprietary processes, and wide ranging peer review of techniques and scientific foundation for potential effectiveness can be difficult. Such work is typically funded by “the market”, and venture capitalists. It is vital that such future prospective treatments, again like just like any and all research, complete internationally accepted clinical trials before being approved.
Highly thought of Scientific organisations, like the MND Association in the UK use strict peer review to allocate research and clinical trial funds. If you examine the list of research funded currently by the MND Association (and others around the globe) you will NOT find ONE example of stem cell therapy. However, quite rightly, using stem cells to carry out pre-clinical research is funded in many cases.
Unfortunately, because of the apparent slow progress, it is no surprise that patients travel to try unproven therapies in hospitals, spending vast amounts of money at the same time, In addition the leading organisations such as the MND Association and ALSA in the USA often face unjustified criticism when not supporting certain therapies or hopes. But we have to remember, these treatments are unproven.
In my view, there is NO stem cell therapy that I am currently willing to even consider. I would have to see a peer-reviewed structured understanding of how any biotech company believes their process works. Here in 2021, there is no stem cell therapy worldwide that I am willing to spend both mine and my families time and finances on. I cannot accept a simple proposition of a therapy that is only described as a cocktail of “neuro-protective factors“. What exactly does that mean!? And if so, why not target those factors directly?
Also I hear that MND/ALS patients are willing to try anything. I personally disagree with this from both an economic standpoint and also scientific approach. I am willing to try anything that has a SOLID scientific basis, and or perhaps is a relatively neutral and harmless change to your life.
So what is the best way forward?
We MUST understand the pathology of the disease, i.e. what is actually happening.
Genetics, I believe holds the key for several reasons:
- There is an age related incidence of the disease, and mutations/changes to our genome over time have been shown to be disease-causing. In addition, because this is a disease of middle age onwards, natural selection would not have eliminated the potential genetic factors.
- There are probably several steps to the disease, and genetics is the best place to find the signs to the factors.
- It could hold the pointers to the environmental factors (approach the search in a targeted manner).
- Because of the infinite search space for environment, we cannot look at every factor, and we must look at design.
Like a car, once you understand the blueprint, the target solution to any problem typically becomes much clearer.
To this end ProjectMinE is one of the most important projects worldwide currently within MND research. ProjectMinE is the first project worldwide that is working as an international collaboration to sequence over 20,000 MND patients full genomes (3 billion base pairs each).
ProjectMinE has been announcing results over the years and new gene markers are constantly being discovered. This is real progress, and has crucially opened an area for new research. Whether it leads to gene therapy or delivery of treatment by stem cells is not yet known, but this is the sort of methodical process required.
We are getting there!
Please see the amazing ProjectMinE website for details.
One final thought before you perhaps review my back catalogue. We must be very focused on those sound bites. Be very careful. There are so many false trails, some deliberate and some offering perhaps too much hope at this time. Don’t ever confuse Innovation with Effectiveness, for example. This sounds silly, but I see often the use of the phrase ‘innovative’ in the media to be almost an endorsement of validity.
Above all, don’t listen to me if you are concerned and perhaps unsure. Please always contact your local global MND or ALS patient Association’s scientific help team. Trust them. They have seen the rotating door of patients for a long time.
- Living with ALS/MND is bad enough but we have this to contend with as well! (6/26/2022)
- Questions we might ask about clinical trial results (aka – A guide to surviving trial news!) Part 2 (1/30/2022)
- Questions we might ask about clinical trial results (aka – A guide to surviving trial news!) Part 1 (1/26/2022)
- I thought the weather report said it would rain! (10/1/2021)
- Raising the bar – A patient’s view of the #United2EndMND Campaign with UK Government (3/25/2021)
- Now that would be a NICE problem to have…. (8/25/2020)
- It’s all starting to stack up…. (12/18/2019)
- Pheasants are a different kettle of fish…… (11/5/2019)
- Narrowing and Widening the Target! – Stratification (9/20/2019)
- 50% chance of rain today (7/19/2019)
- Can placebo trials ever be justified for terminal illness diseases……? (6/3/2019)
- The trials and tribulations of coy scientists (3/10/2019)
- The relentless focus on getting a clearer picture… (12/4/2018)
- Weapon of Choice Too! (6/13/2018)
- Weapon of Choice? (6/3/2018)
- One thing leads to another – MND Research Commentary update – March 2018 (3/18/2018)
- Chain reaction – ‘MND caused by Genetics, time and “what”?’ (6/25/2017)
- “This ain’t no technological breakdown… oh no, this is the road to….” – May 2017 (5/17/2017)
- My view on the current road to a therapy – Jan 2017 Update (1/19/2017)
- My view September 2016 (9/16/2016)
- Chocolate Biscuits – Does genetics hold the key to MND/ALS? (9/17/2015)