MND in the News

Timeline

October 6

Study identifies protein important for motor coordination and exercise performance

Study identifies protein important for motor coordination and exercise performance

Researchers at Karolinska Institutet in Sweden have identified a protein that improves muscular metabolism, motor coordination and exercise performance in mice. The findings, published in Cell Metabolism, could be of therapeutic value for patients with muscle and neurological diseases, such as ALS. Click here for the full article. 

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September 29

SPTLC1 gene variants in Juvenile Amyotrophic Lateral Sclerosis

This study aimed to identify the genetic variants associated with juvenile ALS. The data broadened the phenotype associated with SPTLC1 and their findings suggest that patients presenting with juvenile ALS should be screened for variants in this gene. Read the full article here.

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September 15

Clene Phase 2 Trial Testing in RESCUE-ALS Study

Topline data is expected in the next couple of months for the Clene’s Phase 2 trial investigating the potential of CNM-Au8 — which uses nanotechnology to prevent the loss of motor neurons — for the treatment of MND/ALS. Click here to read more about this trial.

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September 1

Subtle Changes in MicroRNA-218 May Fuel MND

Dropping the levels of microRNA-218 (miR-218) — a small molecule that regulates the activity of other genes — below a certain threshold leads to severe motor neuron damage, paralysis, and death in a mouse model of amyotrophic lateral sclerosis (ALS) / MND. Click here to read the full news release and article link. 

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July 27

Trial of WVE-004 in Patients With C9orf72 Mutations Begins Dosing

Dosing has begun in a clinical trial of WVE-004, Wave Life Sciences‘ investigational therapy for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) associated with C9orf72 gene mutations. The Phase 1b/2a trial, called FOCUS-C9 (NCT04931862), is evaluating the safety and tolerability of single- and multiple-ascending doses of WVE-004 against a placebo in about 50 adults, ages 18 to 80, for six months (24 weeks). Recruitment is underway at a site in Utrecht, Netherlands, with a second site expected to soon open in Quebec, Canada. A site has also being approved for New Zealand which can hopefully start recruiting later this year. Click here to read more about the WVE-004 trial. 

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July 14

A Knowledge-Based Machine Learning Approach to Gene Prioritisation in ALS/MND

Several rare disruptive gene variants have been associated with ALS and are responsible for about 15% of all cases. Although our knowledge of the genetic landscape of this disease is improving, it remains limited. Machine learning models trained on the available protein-protein interaction and phenotype-genotype association data can use our current knowledge of the disease genetics for the prediction of novel candidate genes. This article describes a knowledge-based machine learning method for this purpose. Click here to read more. 

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July 14

Estimated Prevalence and Incidence of Amyotrophic Lateral Sclerosis and SOD1 and C9orf72 Genetic Variants

This study estimated the number of prevalent and incident ALS cases overall and superoxide dismutase 1 (SOD1) and chromosome 9 open reading frame 72 (C9orf72) ALS from 22 countries. A literature review was conducted to identify population-based studies reporting ALS prevalence and/or incidence rates. The results suggest that although the proportions of SOD1 and C9orf72 are higher among those with familial ALS, the majority of SOD1 and C9orf72 ALS cases may be found among those with sporadic ALS. This suggests that classification of familial ALS based on reported family history does not capture the full picture of ALS of genetic origin. Click here to read the full paper. 

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July 7

Newly discovered genetic mutations may increase risk for ALS

University of Utah Health researchers have detected a set of genetic mutations that appear to increase a person’s risk of developing ALS. They say the discovery of mutations in TP73, a gene that has never been associated with ALS before, could help scientists develop new therapies to slow or even stop the progression of the disease. The study appears in Neurology, the medical journal of the American Academy of Neurology. Press release available here. 

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June 2

Scientists discover a new genetic form of ALS in children

Scientists discover a new genetic form of ALS in childrenAn international team of researchers led by scientists at the National Institutes of Health and the Uniformed Services University (USU) have discovered a new and unique form of amyotrophic lateral sclerosis (ALS) manifesting as childhood-onset ALS. This form of ALS has been linked to a gene, called SPTLC1. The SPTLC1 variants that result in unrestrained sphingoid base synthesis caused a monogenic form of ALS. Click here to read the news release and publication of the article. 

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May 12

ORPHAZYME Announces Topline Data from Phase 3 Trial in ALS

Orphazyme, a late-stage biopharmaceutical company pioneering the heat shock protein response for the treatment of rare diseases, has announced that the phase 3 trial of arimoclomol in ALS did not meet its primary and secondary endpoints to show benefit in people living with ALS. No important safety concerns were detected in the trial. Topline data will be presented at the virtual European Network to Cure ALS (ENCALS) meeting, May 12-14, and complete data from the study will be published later this year. Click here to read Orphazyme press release

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April 28

Update on Tofersen, for SOD1-ALS

Biogen have announced a Two-Part Tofersen Access Program. Beginning in mid-July 2021, after patients in this study currently on placebo transition to active therapy, and before the safety and efficacy of tofersen are established, compassionate use access will be allowed for a subset of the SOD1-ALS population with the most rapidly progressive disease. In the fall of 2021, if results from the Phase 3 study indicate that tofersen is safe and effective, and if no further studies are required, we will initiate an early access program (EAP) for the broad SOD1-ALS population. Full details available here 
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March 17

Mitochondrial associated ER membrane (MAM) compartment and its dysregulation in Amyotrophic lateral sclerosis (ALS)

 

 

This review discusses the structural and functional relevance of MAMs in ALS and how targeting MAM could be therapeutically beneficial in this condition.

Read the full article here

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March 10

Is phrenic nerve motor responses an option to SVC in clinical trials for ALS?

Respiratory tests are fundamental for monitoring respiratory function in ALS, and essential in clinical trials. Slow vital capacity (SVC) was canceled in some countries to prevent COVID-19 transmission. This study aimed to test phrenic nerve motor responses as an option to SVC in clinical trials. It found that contrary to SVC, meanPhrenAmpl is non-volitional and not associated with aerosolization risk. https://www.tandfonline.com/doi/full/10.1080/21678421.2021.1895842?scroll=top&needAccess=true

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March 2

Phase 2 Randomised, Double-Blind, Placebo-Controlled Study of Oral Dimethyl Fumarate in ALS (TEALS Study)

Neuroinflammation is an important pathogenic mechanism in amyotrophic lateral sclerosis (ALS), with regulatory T cells (Tregs) mediating a slower rate of disease progression. Dimethyl fumarate, used in the treatment of relapsing-remitting multiple sclerosis, enhances the anti-inflammatory immune response by suppressing pro-inflammatory T cells and increasing Treg levels. The aim of this study was to assess the efficacy and safety of dimethyl fumarate in sporadic ALS.

Click here for more information on this study 

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February 18

Should routine genetic testing be considered for all cases of MND?

Researchers from the University of Sheffield as part of the AMBRoSIA biobank, have found higher than expected genetic changes in a group of 100 MND patients.  42 of the 100 people (21%) with MND in this study showed some form of variants in the 44 known MND-linked genes. 35 of these 42 people (93%) had no family history of MND which shows that some familial and sporadic cases can share the same genetic cause of disease. The researchers propose that a test for the most common MND genes could be offered to all patients in the future, whether they have a family history of the disease or not. This could impact on disease sub-classification and clinical care, especially when drug companies are developing approaches to treat MND by specifically targeting associated genes to reduce the damage caused to motor neurons.
The full paper can be accessed here 
A summary of the paper provided by MNDA Research Blog can be found here 
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January 26

Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis l University of Edinburgh

Dr Arpan Mehta alongside Dr Bhuvaneish Selvaraj and Professor Siddharthan Chandranat Euan MacDonald Centre for MND Research have published a laboratory study that sheds light on how the damage to nerve cells caused by C9orf72 MND can be repaired by improving the energy levels in mitochondria. https://link.springer.com/article/10.1007/s00401-020-02252-5

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October 16

Scientists identify genetic variation linked to severity of ALS | EurekAlert!

Researchers at Wake Forest School of Medicine found that ALS patients with a genetic variation in the interleukin 6 (IL6) receptor gene may experience more severe symptoms and faster progression of the disease. Interleukin 6 – which has many functions in the lungs, muscle and nerves – was previously found to play a role in the severity of asthma. Click here to learn more

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October 3

Aural Analytics Speech Platform Powers Clinical Trial Showing Potential Early Treatment Effect for ALS Patients Treated with Investigational Therapy | Business Wire

Aural Analytics Speech Platform Powers Clinical Trial Showing Potential Early Treatment Effect for ALS Patients Treated with Investigational Therapy | Business Wire

A Phase 2 clinical trial in ALS patients found that use of reldesemtiv, designed to ease muscle contraction with minimal nerve stimulation, led to a slower decline in speech motor control relative to placebo. Speech data for the study was collected using Aural Analytics’ speech analytics platform technology. Click here to learn more

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September 24

Amyotrophic Lateral Sclerosis: Developing Drugs for Treatment Guidance for Industry | FDA

The FDA recently released a new guidance document to assist sponsors in the clinical development of drugs and biological products for the treatment of ALS. Specifically, this guidance addresses the FDA’s current thinking regarding the clinical development program and clinical trial design for drugs to support an indication for the treatment of ALS. Click here to read more.

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September 24

Kadimastem Announces Promising Interim Results of Cohort A of Its Phase 1/2a Clinical Trial in ALS | BioSpace

Kadimastem Ltd., a clinical stage cell therapy company, announced promising interim results of its Phase 1/2a clinical trial for the treatment of patients with ALS. The trial aims to evaluate the safety and preliminary efficacy of injecting AstroRx®, an “off-the-shelf” clinical-grade astrocyte cell product, into the spinal cord fluid of ALS patients. Click here to read the full article.

 

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