Here you can find the latest MND research news from around the world. Stay tuned to find out about clinical trial outcomes, breakthroughs in the lab, interesting research papers and more.
New online platform improves access to participate in UK MND research studies
12 December 2024
Researchers from Sheffield have announced the launch of a new remote monitoring platform that is designed to make it easier and quicker for people with MND across the UK to take part in MND research. The platform, called Telehealth in MND-Research or TiM-R, will bring all of the UK MND studies into one place for people with MND to see what studies are happening and contact researchers to register interest in taking part.TiM-R will give users updates on how studies are progressing and allow participants to complete questionnaires and submit data remotely, rather than having to travel to the clinic. MND researchers can also use this information to understand what studies users may be eligible for and engage with potential participants.
This platform, funded by the MND Association along with LifeArc, My Name’5 Doddie Foundation and the National Institute for Health and Care Research (NIHR), is part of the work of the UK MND Research Institute (UKMNDRI) to accelerate the search for more effective treatments for MND. You can read more about TiM-R in this press release or sign up for the platform here.
Dazucorilant clinical trial does not meet primary endpoint
11 December 2024
Corcept Therapeutics reported that the phase 2 clinical trial of Dazucorilant (DAZALS) did not meet its primary endpoint. This suggests that there was no significant change in ALSFRS-R (from baseline to 24-weeks) for those who received the treatment compared to those who received the placebo (dummy drug). The open label portion of the trial will continue until March 2025 to assess long-term effects of the drug. Further details on the trial outcome and open label extension are expected in the coming months. You can read more about Dazucorilant here.
Top-line results announced from cardinALS Phase 2 trial of Utreloxastat
27 November 2024
PTC Therapeutics have announced the top-line results of the cardinALS Phase 2 trial testing Utreloxastat in people with MND. The trial did not meet primary or secondary endpoints. There was no significant change in ALSFRS-R (from baseline to 24-weeks) for those who received the treatment compared to those who received placebo (dummy drug). This suggests that Utreloxastat is not beneficial for people with MND. The data also showed no significant reduction in a marker of nerve damage called neurofilament light chain (NfL) when comparing Utreloxastat to placebo over 24-weeks. This drug was found to be safe and well-tolerated. You can find out more about the results here or read more about the cardinALS trial here.
PTC Therapeutics have announced that there are no plans for further development of Utreloxastat for MND.
NICE have announced they will change how Tofersen is assessed for access via the NHS
18 November 2024
The National Institute for Health and Care Excellence (NICE), who decide which treatments become available on the NHS, has announced that they have changed their decision and will now appraise Tofersen through the Highly specialised Technologies (HST) route.
Previously, NICE had decided to use the Single Technology Appraisal (STA) route to assess the drug, which meant that it was highly unlikely that Tofersen would become accessible to people with SOD1-MND through the NHS. This change means that Tofersen will now get a fair assessment to decide if it will be accessible through the NHS. You can read more about what this change means here.
Tofersen is a gene therapy for around 2% of people with MND who have a change in a gene called SOD1. You can read more about Tofersen here.
New research project investigates potential link between professional football and MND
13 November 2024
A new research project has been announced which is investigating whether there is a link between playing professional football and developing MND. The research, funded by the MND Association, My Name'5 Doddie Foundation and the Darby Rimmer MND Foundation, is a collaboration between researchers in the UK and Italy. Professor Ammar Al-Chalabi of King’s College London and Dr Elisabetta Pupillo of the Mario Negri Institute for Pharmacological Research in Milan will analyse death certificates from thousands of footballers who played in Series A and B in Italy and those who were part of the Professional Football Association in the UK to discover whether they had a higher risk of dying from MND than the general population. You can read more about this project on our website.
Masitinib receives negative opinion upon re-examination by European Medicines Agency Committee
17 October 2024
The Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) has confirmed their recommendation of a negative opinion for conditional marketing authorisation for Masitinib in Europe. The CHMP panel reviews the scientific evidence and forms an opinion on whether new drugs should be approved in the EU. They originally reviewed the data from the phase 2 trial of this drug in June 2024 and gave a negative opinion. AB Science, the company behind Masitinib, asked for a re-examination of their application. Upon re-examination, the CHMP have confirmed their negative opinion for conditional marketing authorisation of the drug in Europe. You can read more in a press release.
A phase 3 trial of Masitinib is currently underway in the US and Europe to gather more data and determine whether it is beneficial for people with MND. You can find out more about Masitinib on our website.
Researchers have developed a new online resource for people considering tracheostomy ventilation
3 October 2024
Researchers from the University of Nottingham, funded by the MND Association, have developed an online resource for people with MND who are thinking about having tracheostomy ventilation (a tube fitted into the windpipe to help breathing). The researchers interviewed people with MND who use tracheostomy ventilation and family members who support or have supported someone with MND to use it. This helped them to find out more about how they came to use this type of ventilation, its benefits and challenges, the care needed to support everyday life and the impact of tracheostomy ventilation on their quality of life. These interviews have been used to build an online resource of information for people with MND who are considering tracheostomy ventilation so that they can better understand what is involved and what it will be like. You can read more in a press release.
Methylcobalamin approved as treatment for MND in Japan
24 September 2024
Methylcobalamin has been approved as a treatment for MND in Japan. Methylcobalamin is the biologically active form of vitamin B12 and has the ability to decrease levels of a molecule (homocysteine) that can contribute to damage to motor neurones. The approval is based on the results from the phase 3 trial, called JETALS. This trial enrolled a subgroup of participants who seemed to respond well to the treatment in an earlier clinical trial, i.e. those whose symptoms had begun within a year of enrollment and who progressed at a moderate rate (defined as a 1-2 point decrease in their ALSFRS-R score over three months before they began the trial). Participants received twice-weekly injections of either 50 mg of methylcobalamin or placebo for 16 weeks. After 16 weeks those receiving the treatment showed a slowing in disease progression compared to those who received placebo. Participants had the opportunity to join the open label extension after the trial ended, meaning everyone on the trial could access the treatment. Results from the open label extension have not yet been announced.
This was a small trial and as with every clinical trial there are several factors that need to be taken into account when interpreting the results. The Scientific Advisory Council produces briefing notes as a trusted source of information about experimental treatments and provides some insight into some of the factors that need to be taken into account for this study.
Researchers find potential new drug target for MND
20 September 2024
Researchers from the University of Aberdeen have found a new drug target that has the potential to protect neurons normally damaged in MND. For the first time, a drug that mimics the activity of vitamin A within the body, called Ellorarxine, has been shown to protect neurons from harmful effects typically seen in the disease. The drug works by interacting with “Retinoic acid receptors” key proteins involved in activating the vitamin A pathway within the body.
Researchers have tested this drug on cells in a dish and within mice models, showing a reduction in damaged cells with the drug treatment. These findings suggest the vitamin A pathway could contain key protective factors that may help to reduce the effects of harmful chemicals seen in MND. This research, funded by the Association, opens the path to finding new potential treatments for people with MND.
Although these findings are promising, the research is still in early stages and the drug used in this research hasn’t yet been tested in people to see if it is safe. There are plans to test this drug in people through clinical trials in the near future. You can read more here.
Researchers identify potential blood test for MND diagnosis
13 September 2024
Researchers from Brain Chemistry Labs are developing a blood test which, in the future, could have the potential to help diagnose MND. They have identified a “fingerprint” of MND, also known as biomarker, in the blood. This test is based on a compound called microRNA which is made up of small sequences of nucleic acids – the building blocks of our DNA. The researchers identified 8 distinct sequences of microRNA which created the unique “MND fingerprint”. So far, this test has been used to confirm the diagnosis of MND in people who have already been diagnosed with MND. It has also been used to tell the difference between MND and other neuromuscular diseases that can mimic MND (Primary Lateral Sclerosis and Parkinson’s disease).
Further research is now needed to see if the test can be used at the start of the diagnostic process when a patient first presents with possible MND symptoms. Find out more about this potential diagnostic blood test.
New imaging technique helps researchers explore why motor neurones die
9 August 2024
The new technique, developed at the University of Birmingham, enables proteins to be studied in greater detail than ever before. Proteins are vital for all the tasks our cells undertake and some proteins can become faulty in MND. Researchers at the Sheffield Institute for Translational Neuroscience (SITraN) have used this new technique to study the SOD1 protein. The detailed imaging identified the loss of metal ions, which play a crucial in how a protein functions, and clumping of the SOD1 protein in models of MND. The researchers now aim to investigate whether these changes can be treated in the models, which is the first step to developing a potential new treatment for people with MND. You can read more here.
Researchers investigate rare MND reversals
5 August 2024
Researchers at Duke University have identified a very small group people who have undergone what they describe as a MND (also known as ALS) reversal. These reversals are described as ‘a person who has regained significant or complete motor function having previously been diagnosed with MND’ and are very rare. The researchers are now trying to understand more about these reversals and whether genetic, environment or lifestyle factors could play a role.
The genetic makeup of 22 people with reversals was compared to people with more ‘typical’ MND. A change in the IGFBP7 gene was found to be more common in those with MND reversals. The researchers have theorised that this change leads to less IGFBP7 being made, which may make motor neurones more resistant to some of the mechanisms that lead to motor neurone death. You can read more about the research into MND reversals on our blog or in a recent publication.
Results of phase 2 trial of TPN-101 announced
24 July 2024
Transposon Therapeutics have announced the results of a phase 2 trial of TPN-101 in people with C9orf72 MND. The trial investigated TPN-101 against a placebo (dummy drug) for 24 weeks, in 42 people with MND. TPN-101 is designed to reduce inflammation and neurodegeneration. It is thought that ancient viruses have left their genetic material in our DNA during human evolution. Researchers have theorised that the build-up of proteins in MND activates this viral genetic material. This activation leads to an immune response, which can lead to nerve cell death. TPN-101 aims to reduce the activation of this genetic material.
TPN-101 was found to be safe and well tolerated. After 24-weeks, participants who received TPN-101 experienced a 50% less decline in vital capacity, a measure of respiratory function. However, no change in the ALSFRS-R was observed between those receiving TPN-101 and those receiving placebo, suggesting there was no change to disease progression. The study also looked at markers of inflammation and motor neuron damage (neurofilament). At the end of the study, these markers were found to be lower for those who received TPN-101 compared to those who received placebo. This small study hints at some potential benefit for people with MND, but further research is still needed. You can read more about the results here.
Results from trial investigating gene therapy BIIB078 published
23 July 2024
Back in March 2022, Biogen and Ionis Pharmaceuticals announced they were discontinuing the development of a gene therapy (BIIB078) for people with C9orf72 MND. The therapy was designed to reduce levels of toxic proteins observed in people with the C9orf72 gene change.
The full results from the trial have now been published. The trial was designed to find the best dose to take forward into larger trials. The researchers found that 60 mg and 90 mg decreased levels of toxic proteins – suggesting that the treatment was doing what it was designed to do. However, no significant difference in functional measures were found between the treatment and placebo. In fact, those receiving 90 mg of BIIB078 showed a potential increase in disease progression, as measured by ALSFRS-R. In both doses, the levels of a marker of motor neuron damage (neurofilament light chain) were found to increase, suggesting that more damage was happening to motor neurons.
While the results from this trial are disappointing, researchers will now try to understand why the treatment didn’t benefit people with MND, which will help in the development of the next generation of potential treatments. You can access the publication here.
Immune cell therapy shows promise in early studies
10 July 2024
Researchers at Massachusetts General Hospital have published results of early testing of an immune cell therapy which could be a potential treatment for ALS. It is thought that increased inflammation and changes in activity of the immune system might be involved in the development and progression of ALS. The therapy involved regular infusions of a type of immune cell, called a B cell. B cells are found within our bodies and are known to produce antibodies, help to reduce inflammation and support the repair of damaged cells. This immune therapy aims to increase the number and activity of B cells within the body.
Mice were given 10 infusions of B cells from healthy donor mice over 10 weeks. Results showed that repeated infusions of B cells were able to delay the onset, extend survival and reduce cell death in mouse models of the disease. The researchers then went on to test the potential immune therapy in one person with the disease, giving them two infusions of B cells from a healthy donor over 60 days. They found that the therapy was safe, led to an improvement of 5 points on the ALSFRS-R scale and decreased the levels of different markers of inflammation in the body. These results support plans for the potential immune cell therapy to be tested further in a phase 1 clinical trial. You can read more in a press release or read the publication.
Gene therapy improves signalling between motor neurones in early laboratory testing
05 July 2024
Researchers at University College London have shown that targeting the UNC13A gene may help to send signals between motor neurones, a process which is normally faulty in MND. TDP-43 is an essential protein which helps to keep cells healthy. However, in 97% of MND cases, this protein can become faulty and move to the wrong place in the cell, impacting the way the rest of the cell can function. Previous research has suggested that when TDP-43 is misplaced, it can affect how the UNC13A gene functions. The UNC13A gene forms the instructions for the UNC13A protein, which plays a key role in passing signals between neurons. When the gene is faulty, it results in a faulty UNC13A protein, which can lead to a reduction in signalling between neurons and neuronal death.
Researchers tested an experimental gene therapy in models of MND with misplaced TDP-43. The study showed the treatment increased signalling between neurons allowing them to continue functioning. This treatment could have the potential to protect muscle strength and functioning in people with TDP-43 associated MND. Future laboratory studies are now needed to continue to develop this new potential treatment. You can read more about the study here.
Additional results announced for the PARADIGM trial of PrimeC
01 July 2024
NeuroSense Therapeutics, the company behind potential treatment PrimeC, have announced additional data from the open label stage of the Phase 2b PARADIGM trial. The PARADIGM trial initial results were released in December 2023 and found that PrimeC was safe and well tolerated by people with ALS. PrimeC was shown to slow disease progression by 29% on the ALSFRS-R and slow decline in lung function by 13% for those who received the potential treatment compared to placebo. After 6 months on the PARADIGM trial, participants were given the opportunity to join the open label stage where all participants received the treatment (even those who were previously given the placebo).
After 12 months of the open label stage, there was found to be a 36% slowing in disease progression on the ALSFRS-R for those who received PrimeC throughout compared to those who were initially on placebo. Those who were on PrimeC from the start were also found to have a 43% improvement in survival when compared to those who were on placebo in the trial. These results help to show that PrimeC may be more beneficial for people with ALS when it is taken earlier and for longer. NeuroSense Therapeutics are planning a phase 3 trial of the potential treatment in the USA and Europe to fully understand whether it could be a beneficial treatment for people with ALS. You can read more in the press release.
Masitinib receives negative opinion from European Medicines Agency Committee
28 June 2024
The Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) has announced a negative opinion for the conditional approval of Masitinib for the treatment of MND. The CHMP panel reviews the scientific evidence and forms an opinion on whether new drugs should be approved in the EU. The committee based their review on data from the phase 2 trial. AB Science, the pharmaceutical company behind Masitinib, have announced that they will request a re-examination. This process will take approximately 4 months. You can read more in a press release.
The EMA determines approvals for the EU. After Brexit, a new process (known as the International Recognition Procedure) has been put into place so that the regulator for Great Britain (England, Wales and Scotland), known as the Medicines Healthcare products Regulatory Agency (MHRA) may rely on a decision taken by other international regulators, such as the EMA, on the approval of new treatments.
A phase 3 trial of Masitinib is currently underway. You can find out more about Masitinib on our website.
Top line results of Phase 2a trial of Bravyl for MND announced
24 June 2024
Woolsey Pharmaceuticals have announced the initial results of a small phase 2a trial of Bravyl. People with MND have been shown to have higher levels of Rho kinase (ROCK) in their blood. Rho kinase plays an important role in regulating the shape, movement and growth of cells, as well as contributing to cell death and inflammatory processes. Bravyl is a Rho kinase inhibitor, which means it aims to reduce the levels of ROCK and could potentially slow neurodegeneration. The trial was open label, where all 31 participants received the possible treatment over 24 weeks.
The drug was found to be safe and well tolerated in people with MND. The study monitored levels of a marker of motor neuron damage, known as neurofilament light chain, and found after 6 months, levels were 15% lower compared to levels before the start of the study. Lower levels suggest that the disease is less active and hints at a slowing in disease progression. This potential slowing in disease progression was also shown in other measures, such as measures of respiratory function and muscle strength. You can find out more about the results here.
This study shows promising results, but the potential treatment was only tested in a small group of participants and there was no placebo group to compare results. Further testing is needed in a larger, placebo-controlled trial to find out if Bravyl is an effective treatment for MND.
Sano Genetics launch a new MND genetic testing and research initiative in the UK
12 June 2024
Sano Genetics have launched a new initiative called ‘Light The Way’ which is an online platform offering support for people diagnosed with or at risk of developing MND. It has interactive educational resources to help people to better understand the genetic links to MND, as well as offering genetic testing and counselling to a small number of people affected. Genetic counselling can help people to make a decision on whether they want to undergo genetic testing and explain the meaning of results if testing is done.
The platform also includes peer-to-peer support groups so that people can talk to others who are or have been in a similar situation to themselves. This peer and counselling support is available during and after the testing process. People will also be given the opportunity to take part in research studies and the ‘Light The Way’ team are conducting a study as part of this programme. The study, called Beacon, will collect information on the wellbeing of people over 9 months. This will help to improve understanding of the psychological impact of genetic testing and risk. You can find out more about it here.
Researchers uncover more about the role of FUS protein in MND and Frontotemporal dementia (FTD)
11 June 2024
Researchers at the VIB-KU Leuven Center for Brain & Disease Research have shed more light on the role that a protein called FUS might play in some cases of MND. The FUS protein can become faulty in some forms of MND and FTD and forms toxic clumps in the neurons. This new study has revealed more information on how these clumps of FUS behave in the diseases. The researchers injected clumps of FUS into mice who had been engineered to make the human form of the FUS protein.
They found that the injected toxic clumps of FUS caused further clumping of FUS within the neurons and that this spread to other areas of the brain. The spread of FUS clumps contributed to cell damage and cognitive and behavioural changes in the mice. This suggests that clumps of human FUS protein can cause the formation of other clumps in cells, like a domino effect, and these can spread throughout the brain to cause damage to neurons. Further research is needed to understand more about how and why FUS spreads throughout areas of the brain to discover whether the spread, and damage to the cells, can be stopped or delayed. You can read more about this here.
New top line results of a phase 1 trial of CTLA4-Ig and interleukin-2 for MND announced
10 June 2024
Coya Therapeutics have announced the initial results of a small phase 1 trial of a combination of two compounds called CTLA4-Ig and interleukin-2. The potential treatment is thought to help reduce inflammation in the brain by promoting anti-inflammatory behaviour of immune cells called T-regs. It was tested in an open label study, where everyone received the possible treatment, in 4 people with MND. Participants were given the drugs every 2 weeks for a total of 48 weeks.
The drugs were found to be safe and well tolerated by people with MND. The anti-inflammatory functions of the T-regs were found to increase throughout the trial, before dropping to normal levels 6 weeks after the last treatment. During the 48 weeks of treatment, the change in ALSFRS-R score was on average -0.13 points/month which suggests that the potential treatment might help to slow disease progression. The study also looked at biomarkers of oxidative stress, inflammation and motor neuron damage (neurofilament light chain). These were all found to decrease in most participants during the study. This provides further evidence to suggest that the combination therapy might be beneficial for people with MND. You can find out more about the results here.
This study shows promising results but it only tested the possible treatment in 4 people with MND and there was no placebo group in this trial to compare results. It suggests that further testing is needed in a larger, placebo controlled trial to find out whether it may be an effective treatment for MND.
Research finds the MIF protein might slow disease progression in MND
06 June 2024
Researchers at Ben-Gurion University of the Negev in Israel have shown that increasing levels of a protein called MIF (macrophage migration inhibitory factor) might be able to slow disease progression. Previous research has suggested that MIF blocks clumps of toxic SOD1 protein forming in SOD1 MND. In this study, the team tested the effects of increasing the MIF protein in mice with SOD1 MND. MIF levels were increased by injecting the gene into the blood of the mice so that the gene could be taken up by cells of the nervous system. This gene was used to make more MIF protein in neurons.
The study found that mice treated with the gene showed preserved muscle strength and motor function, slower disease progression, and extended survival compared to untreated mice. The scientists then also looked at MIF levels in motor neurons made from stem cells of people with different gene changes linked to MND. They found that MIF levels were decreased in the different types of MND and not just SOD1 MND. This suggests that lower levels of MIF might play a role in the disease for most people with MND. Further research is needed to fully uncover how increased MIF slows disease progression and how the findings might be used to develop new potential treatments for MND. You can read more about the study here.