This year, ECTRIMS 2024 in Copenhagen, Denmark, will once again bring together leading experts in multiple sclerosis (MS) from around the world. The prestigious conference is the premier event for researchers, physicians and healthcare professionals all working towards a common goal: improving quality of life through groundbreaking research and advances in the treatment of MS and related diseases. The event, which is expected to attract around 9,000 attendees, promises a rich program of inspiring keynote addresses, exciting oral and poster presentations, and carefully curated scientific and educational sessions. In addition, there will be numerous opportunities for networking and connecting with the international MS community. I have brought you some exciting papers to start my coverage of this year’s event.
From biomarkers that help predict disease progression to new insights into genetic risk factors and gender differences in treatment, these results underscore the growing importance of personalized care in the management of MS. Key findings include the benefits of early, high-potency treatments for children, the association of inherited genetic variants with MS risk, and the therapeutic inertia in the management of women with MS. These studies pave the way for more targeted and effective treatment strategies that could transform outcomes for people with MS worldwide.
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Table of Contents
Early High Efficacy MS Treatment in Children Shows Long-Term Benefits
A new study has found that starting high-efficacy immunotherapy, known as monoclonal antibody therapy, early in childhood can significantly reduce the likelihood of long-term disability in people with MS. This is an important finding because it means that children who receive this treatment between the ages of 12 and 17 are likely to have much less impact of MS in old age compared to children who start treatment as adults.
The study looked at data from 282 children who experienced MS symptoms before the age of 18. The researchers compared two groups: one that started treatment between the ages of 12 and 17, and another group that started treatment a little later, between the ages of 20 and 22.
What is so important about this? The researchers found that in children who started treatment earlier, disability progressed much more slowly. In fact, their level of disability between the ages of 23 and 27 was significantly lower compared to those who started treatment later.
The numbers show that those who started early experienced only a small increase in their disability score (just 0.40 points), while those who started later experienced an increase more than double that (0.95 points). That’s a significant difference!
But what does this mean for the future? What it means is that early treatment makes a huge difference to long-term outcomes. So if you or a loved one is showing symptoms of MS at a young age, this research offers hope that you can still pursue your goals despite the diagnosis. Starting effective treatment early could help prevent future disability and allow young people with MS to live more carefree and healthier lives as they age.
It is great to see such positive results from these studies. They are proof that we are moving in the right direction, especially for those diagnosed at a young age. Remember to talk to your doctor about the best treatment plan for you or your child. The earlier we act, the brighter the future can be!
Dr. Sifat Sharmin, who is leading this important study at the University of Melbourne, shared some astounding results. She explained that early treatment can reduce the risk of reaching a higher level of disability (EDSS = Expanded Disability Status Scale) by up to 97%! This is especially true for people with a moderate level of disability. So the earlier children with MS receive highly effective treatment, the better their chances of keeping their symptoms under control.
Dr. Sharmin emphasized that treatments such as ocrelizumab, rituximab or natalizumab – when given in childhood – can lead to much better long-term outcomes. These treatments help to protect important brain and nerve functions and can slow the progression of disability. This is of great importance to anyone living with MS, as it offers the chance of a better quality of life in the long term.
Currently, many children with MS face delays in receiving these treatments. Why? Because some regulations still restrict access to these therapies until adulthood. However, these research findings suggest that these rules need to be updated. Dr. Sharmin believes that earlier treatment of children can significantly improve their quality of life and help reduce the long-term burden of MS.
In the future, the research team plans to collect even more data to support the strategy of early treatment for children with MS. They will also investigate any long-term risks associated with these treatments to ensure they are as safe as possible for young patients.
These findings offer real hope for the future of MS treatment in children and adolescents, and highlight the importance of acting early to protect young lives from the long-term effects of the disease.
References
- Long-term disability outcomes among children with multiple sclerosis treated with high-efficacy therapy, Sharmin, S. et al. (2024). Presented at ECTRIMS 2024.
- Mavridi, A., Bompou, M.E., Redmond, A. et al. (2024). Current and Emerging
Treatment Options in Pediatric Onset Multiple Sclerosis. Sclerosis; 2(2):88-107. https://doi.org/10.3390/sclerosis2020007
New Genetic Discoveries Bring Personalized MS Treatments Closer for Diverse Populations
A new study has found that certain genetic markers related to ancestry may influence the risk of developing MS. This is important because it means that the background and genetics of an individual should be considered when treating MS, leading to more personalized care.
This research is groundbreaking because it is one of the first large-scale studies to specifically address how MS risk differs by ancestry. The study, led by the Alliance for Research in Hispanic MS (ARHMS) Consortium, analyzed over 7,000 people of Hispanic and African American backgrounds. They compared people with MS to those without and found some important genetic differences that may increase the risk of developing MS.
For example, one of the most exciting discoveries was made on chromosome 13 in people of African descent. A particular genetic marker called rs3803245 was found in an area of DNA that helps direct certain immune cells, called T cells. Because MS is an autoimmune disease, this discovery may explain why some people are more susceptible to MS based on their genetics.
Another important finding involved chromosome 1, where two distinct genetic markers were found associated with MS risk. One was common among people of indigenous ancestry, while the other was more prevalent among people of European ancestry. The indigenous variant, rs145088108, significantly increases MS risk in people of Hispanic and African American descent. The European variant, rs10914539, was found in a larger group of European participants. Both variants are associated with a higher risk of MS, but in different ways depending on ancestry.
What is exciting about these findings is that they open the door to developing new strategies for treating MS based on an individual’s genetic background. The more we know about how genetics influence MS, the better we can design treatments that work for everyone, regardless of their origin.
This study helps us understand how MS impacts different communities and could lead to better, more personalized treatments in the future. It also shows that in the future, it will be important to consider the genetic background of an affected person in order to choose the best possible treatment for that individual.
Dr. Jacob McCauley, who led this study from the University of Miami, shared some key insights about their findings. He explained that the genetic marker found in people of indigenous descent alters the way a protein functions, which may explain why it is more strongly associated with MS. By contrast, the genetic marker found in people of European descent is in a different part of the gene that doesn’t directly make proteins, so it’s still not clear how it contributes to MS.
The researchers also used a special technique to take a closer look at seven areas of DNA that have already been linked to MS. They were able to create a clearer picture of these genetic regions and found new clues that could help develop treatments that target these specific areas. Dr. McCauley emphasized that these findings are particularly valuable because they could lead to population-specific treatments, i.e. treatments that work better for people with certain genetic backgrounds.
Although the researchers had expected to find some differences in genetics, the discovery of specific markers in people of African and indigenous descent is very exciting. As the study continues, they hope to find even more genetic markers that can help us understand how MS affects people from different backgrounds. Dr. McCauley also thanked the participants and their families for taking part in this important study and encouraged more people from underrepresented communities to take part in future studies.
This research is not just about genetics – it also shows the importance of considering the environment and lifestyle. Our lifestyle can interact with our genes and influence our risk of MS. This is especially important for people from different socioeconomic backgrounds, who may have different diets and lifestyles. By understanding both genetic and environmental factors, researchers hope to learn more about who is at risk for MS and how best to treat it.
In the future, Dr. McCauley and his team plan to continue their work and investigate how these genetic markers actually cause MS. They are also expanding their study group to include even more people, which will help uncover additional genetic differences that could lead to better, more personalized MS treatments.
This research gives clinicians more tools to effectively treat MS, particularly by understanding the role of genetics and the environment in the disease. With these new insights, we are one step closer to a treatment that works for everyone, regardless of their history.
References
- Novel ancestry-specific and putative causal genetic variants for multiple sclerosis identified by an ancestry-informed regression and trans-ethnic fine-mapping analysis, McCauley, J.L., et al. (2024). Presented at ECTRIMS 2024.
Blood tests help to identify the progression of disabilities in MS at an early stage
A team led by Dr. Enric Monreal studied over 725 MS patients from hospitals in Spain and Italy. They found that by measuring certain proteins in the blood, called biomarkers, doctors could get an idea of whether a person’s MS might get worse over time. Specifically, they looked at two important proteins:
- sNfL (serum neurofilament light chain) – this protein appears in the blood when nerve cells are damaged. If patients have high sNfL levels at the onset of their MS, this may be a warning sign that they could face both relapsing-associated worsening (RAW) and progressive disability even if they do not have new relapses (so-called PIRA – progression independent of relapsing activity).
- sGFAP (serum glial fibrillary acidic protein) – this protein comes from brain cells that become inflamed when the central nervous system is injured. In patients with low sNfL levels, sGFAP is still important because it is associated with PIRA and helps predict disease progression.
What’s particularly exciting is that these biomarkers can be measured through a simple blood test, which will help doctors better predict how MS might affect an individual in the future. This could be very useful when deciding which treatments are best for that person.
The study found that patients with high sNfL levels were 45% more likely to experience a worsening due to relapses and 43% more likely to experience progression without relapses. Interestingly, patients with higher sNfL levels often did not respond as well to standard treatments, but benefited from more potent MS therapies such as natalizumab, alemtuzumab, ocrelizumab, rituximab and ofatumumab.
Dr. Monreal’s team found that patients with high levels of sGFAP and low levels of sNfL had an 86% higher risk of PIRA – the type of MS progression that occurs without relapses.
Interestingly, sGFAP was only able to predict PIRA when patients also had low sNfL levels. So, while sGFAP is associated with inflammation, sNfL appears to play a more crucial role in predicting overall MS progression.
Dr. Monreal explained that by using sNfL and sGFAP as biomarkers, clinicians can make better treatment decisions. This could help them choose the right therapies for each individual patient, rather than using a one-size-fits-all approach.
For example, patients with low levels of both sNfL and sGFAP had a good prognosis, meaning their MS was not likely to worsen quickly. They could probably continue to receive regular injectable or oral treatments. However, patients with high levels of sNfL needed stronger medications, such as highly effective disease-modifying therapies (HE-DMT), to prevent their impairment from worsening.
Patients with high sGFAP and low sNfL may require entirely new treatment strategies. These results show that inflammation and nerve damage in MS follow different paths and that current treatments may only address part of the problem.
Dr. Monreal emphasized that these biomarkers are crucial to identifying patients who need stronger treatments early on, and that they can help doctors make better decisions about how to manage MS.
References
Serum neurofilament light chain and glial fibrillary acidic protein levels at disease onset unveil immunologic pathways of disability acquisition in multiple sclerosis, Monreal E., et al. (2024). Presented at ECTRIMS 2024.
Meier S., Willemse E.A., Schaedelin S., et al. (2023). Serum Glial Fibrillary Acidic Protein Compared with Neurofilament Light Chain as a Biomarker for Disease Progression in Multiple Sclerosis. JAMA Neurol., 80(3):287-297. doi:10.1001/jamaneurol.2022.5250
Lublin, F. D., Häring, D. A., Ganjgahi, H., et al. (2022). How patients with multiple sclerosis acquire disability. Brain: A Journal of Neurology, 145(9), 3147-3161. https://doi.org/10.1093/brain/awac016
Unutilized opportunities: Why women with MS are less likely to receive highly effective therapies at an early stage
There are still gaps in treatment for women of childbearing age with multiple sclerosis (MS). Researchers have found that concerns about possible pregnancy often lead to women receiving less or delayed medication for their MS. This could affect their health in the long term.
In a large study of 22,657 patients with relapsing MS, recorded in the French MS registry (OFSEP), researchers found that women were less likely to receive MS therapy at all over the years. Specifically, they had an 8% lower likelihood of being treated with any medication and a 20% lower chance of receiving stronger medications.
The researchers also looked at which medications were prescribed less often. In particular, medications such as teriflunomide, fingolimod and anti-CD20 therapies were used less often in women. For example, women were 13-22% less likely to receive these medications than men. Other medications, such as interferon and natalizumab, were also prescribed less in the beginning, but after a certain period of time, prescriptions between men and women evened out.
In contrast, medications such as glatiramer acetate and dimethyl fumarate were used equally often in men and women at the beginning, but were prescribed more often to women over time.
Why is this important?
These findings show that women sometimes do not receive the same treatment as men, especially when it comes to more potent medications. This is despite the importance of treating MS early and effectively to prevent long-term damage.
The researchers also found that these differences in treatment most often occur after two years of the disease when it comes to standard MS medications, and even after one year when it comes to stronger medications.
What does this mean for women with MS?
This study shows that we need to improve the way women with MS are treated. It highlights the importance of discussing potential treatment gaps to ensure that everyone, regardless of gender, receives the best possible care.
Interestingly, the study showed that this treatment gap between men and women did not depend on the age of the patients. This means that this so-called “therapeutic inertia” remains regardless of a woman’s stage of life.
Professor Sandra Vukusic, the lead author of the study, explained that these results show how urgently we need to rethink how treatment decisions are made for women with MS – especially for women of childbearing age. She said: “Women may not be getting the most effective therapies at the right time, often for fear of pregnancy risks that may never materialize.” In particular, the use of highly effective medications (HE-DMTs) is often limited by unknown risks to pregnancy due to a lack of data when new medications come onto the market.
Both neurologists and patients contribute to this delay. Many doctors remain cautious and avoid prescribing these medications, especially if they are unsure of how to address pregnancy issues. On the other hand, women understandably do not want to take any risks with their unborn child. They are particularly afraid of malformations, miscarriages or growth disorders in the baby. If the treating physician is also unsure, this makes the decision even more difficult for the woman.
What happens next?
The research team plans to take a closer look at what leads to this treatment inertia. The goal is to develop treatment strategies that support both the long-term health of women with MS and their family planning.
Professor Vukusic emphasizes: “The main problem with this inertia is that the disease becomes less well controlled during the period without therapy. This can lead to an accumulation of lesions and a higher risk of long-term disability.” She adds: “This is a missed opportunity for many women, especially at a time when MS therapies are so effective when started early.”
To overcome these challenges, the team recommends a multifaceted approach. This includes providing patients with better information, disseminating the latest research findings more quickly and providing neurologists with specialized training. It is also important to collect and analyze real-world data to reduce treatment gaps and ensure that every woman receives the treatment she needs.
This study clearly shows that the treatment of women with MS needs to be improved. With earlier and more effective therapies, we can prevent the disease from progressing and reducing quality of life in the long term.
References
- Is there therapeutic inertia in women with MS? Vukusic, S., et al. (2024). Presented at ECTRIMS 2024.
See you soon and try to make the best out of your life,
Nele
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