This is my main research page. My ongoing commentary update posts, which I intend to write once every 1 or 2 months, are listed here with the most recent at the top:

Currently there is only one drug available worldwide, Riluzole, which has been time proved to slow the disease, 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. 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 but 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.

The following summary is my view after being immersed in the subject for over 7 years. I will expand on specific areas in future posts (see above links for status update posts which I aim to release every 3 months).

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 typically 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.

So please ignore “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. One of these is 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.

Stem cells are excellent for developing in-vitro motor neurones (test tube) and are aiding research. However, “Therapy”, ie the use on a patient, is almost certainly not the way forward for MND/ALS in my opinion. Motor neurones are up to 1 metre long, and delivering stem cells, directing them etc. is generally considered a non starter. However, stem cells still percolate the media as a strong hope.

Now, here in 2019, there are several “Experiments” with stem cell direct therapies globally and typically these are all private biotech companies. This means that they have proprietary processes, and wide ranging peer review of techniques and scientific foundation for potential effectiveness is practically impossible. Such work is funded by “the market”, and venture capitalists.  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 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.

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. In my view, here in 2019, 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!?

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.

So what is the best way forward?

We MUST understand the real 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, in my view, is probably the single most important project 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.

4 thoughts

  1. Have you looked into the drug Tofersen at present being used on around 100 SOD 1 MND patients world wide I an
    M one such patient and have Ben on it for two years wa diagnosed 7 years ago I’m still here and doing ok feel free to ask any questions happy to answer


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