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ECTRIMS Bulletin July


min read

Latest developments in MS research:

  • Read about the prevalence of elevated concentration of serum neurofilament light-chain in individuals with different MS types and treatment conditions.
  • Know more about the genetic basis for anxiety in individuals with MS.
  • Learn how distinct metabolic profiles can differentiate individuals with and without MS.

These noteworthy MS news highlights and more are included in our recently published ECTRIMS Bulletins – a 30-day snapshot of global news and publications on MS research, treatment, and care.
 
ECTRIMS Bulletins can be sent to you every month, delivered straight to your inbox, via our free subscription service. Simply select all “topics” that are of interest to you, and when one of those appears in our news and publication cycle, you’ll be sure to hear from us.

Genetics

Polygenic liability for anxiety in association with comorbid anxiety in multiple sclerosis
 
Annals of Clinical and Translational Neurology | June 2024
 
Is there a genetic basis for anxiety in individuals with MS? People with MS are more likely to experience anxiety disorders compared to the general population. Elevated anxiety symptoms can affect work and cognitive functions, making it essential to identify people with MS who might be at higher risk for anxiety. Common genetic variations associated with anxiety have already been observed in the general population. This study finds an association between the Generalised Anxiety Disorder 2-item scale polygenic score (GAD-2 PGS) and anxiety in the MS population. By analysing data from 70,000 individuals of European genetic ancestry from three cohorts (Canada, UK Biobank, and USA), the authors observed that a higher GAD-2 PGS was linked to a greater chance of experiencing moderate anxiety symptoms in individuals with MS. For each standard deviation increase in the GAD-2 PGS, the likelihood of having moderate anxiety symptoms increased by approximately 50%.

A comparison of multiple sclerosis disease characteristics across three genetically diverse Asian racial groups in Singapore
 
Scientific Reports | 26 June 2024
 
This retrospective observational study was conducted in Singapore, at the National Neuroscience Institute, and included 188 individuals with multiple sclerosis (MS) from the three main racial groups present in the country – 92 Chinese, 32 Malay, and 66 South Asian – all of whom are genetically distinct. Among these groups, MS was more prevalent in South Asians. Demographic characteristics and MS disease course were largely similar across the groups. A few minor differences included milder severity of initial attacks in South Asian individuals with relapsing-remitting MS compared to the other two groups. Additionally, more Malay individuals had enhancing lesions in the spinal cord.
 
Regarding the disease-modifying treatments (DMTs), fewer Malay individuals with MS initiated treatment with high-efficacy therapies compared to the other two groups, and more Malays changed DMT at least once compared to Chinese and South Asian persons. No significant difference was observed in terms of progression and long-term disability.

Pathogenesis 

NMR-based metabolomics identification of potential serum biomarkers of disease progression in patients with multiple sclerosis

Scientific Reports | 26 June 2024

Distinct metabolic profiles differentiate individuals with multiple sclerosis (MS) from those without the condition. This study used Nuclear Magnetic Resonance (H-NMR) to investigate metabolic alterations in individuals with MS, including different MS subtypes. Several metabolites in serum were significantly altered in individuals with MS compared to those without the condition. Individuals with MS had higher concentrations of nine metabolites – adenosine triphosphate, tryptophan, formate, succinate, glutathione, inosine, histidine, pantothenate, and nicotinamide adenine dinucleotide – and decreased levels of lysine, threonine, glycine, phosphocholine, myo-inositol, and phenylalanine. Furthermore, lysine, myo-inositol, and glutamate showed the strongest ability to distinguish individuals with MS from controls. In addition, the concentrations of some metabolites varied across different MS subtypes. For instance, inosine levels increased in relapsing-remitting MS compared to progressive stages, while glutamate and lactate were more elevated in primary progressive MS than secondary progressive MS.

These findings suggest that these metabolites could serve as potential biomarkers for diagnosis and monitoring MS, warranting further investigation in larger cohorts.                                                                                                                                                    

Imaging and non-imaging biomarkers 

Prevalence of elevated sNfL in a real-world setting: results on 908 patients with different multiple sclerosis types and treatment conditions

Multiple Sclerosis and Related Disorders | 29 June 2024

This Italian study presents the concentrations of neurofilament light-chain (NfL) in serum samples of 908 individuals with different clinical phenotypes of MS, collected in a real-world setting. The individuals, aged between 18 and 59 years, also varied according to their treatment conditions. Some of the samples were collected before therapy started, while others were taken when the individual had been treated for less than 12 months, and some for more than 12 months. Individuals with MS reported elevated levels of sNfL compared to controls, regardless of MS clinical phenotypes and treatment type.
 
Individuals with progressive MS (both primary and secondary) exhibited increased levels of sNfL and a higher prevalence of elevated sNfL compared to individuals with relapsing-remitting MS. Individuals who had not been treated showed higher levels of sNfL compared to the corresponding treated group. However, 6-7% of individuals with MS showed elevated concentrations of sNfL after more than 5 years of either low-efficacy or high-efficacy therapies.
 
The study suggests that a single measurement of sNfL levels might indicate which individuals with MS require more in-depth clinical assessment.

Clinical 

Digital symbol-digit modalities test with modified flexible protocols in patients with CNS demyelinating diseases
 
Scientific Reports | 25 June 2024
 
Researchers have developed and evaluated a novel tablet-based modified digital symbol digit modality test (MD-SDMT). The symbol digit modality test (SDMT) is widely used to assess processing speed. In this cognitive test, each number from 0 to 9 is associated with a symbol in the answer key. The individual is required to enter the corresponding numbers for a series of 120 symbols within 90 seconds. The modified digital version of SDMT integrates different symbol-digit pairs in each trial and offers two options for time duration (1 or 2 minutes). The MD-SDMT was evaluated with 144 individuals, 99 with multiple sclerosis (MS) and 45 with neuromyelitis optica spectrum disorder (NMOSD). The scores from the paper-based SDMT and the modified digital SDMT revealed a strong correlation. When asked to express their preference, most individuals with MS and younger patients preferred the modified digital version over the paper-based version. In contrast, individuals with NMOSD and older individuals preferred the paper-based version.