[{"command":"openDialog","selector":"#drupal-modal","settings":null,"data":"\u003Cdiv id=\u0022republish_modal_form\u0022\u003E\u003Cform class=\u0022modal-form-example-modal-form ecl-form\u0022 data-drupal-selector=\u0022modal-form-example-modal-form\u0022 action=\u0022\/en\/article\/modal\/11763\u0022 method=\u0022post\u0022 id=\u0022modal-form-example-modal-form\u0022 accept-charset=\u0022UTF-8\u0022\u003E\u003Cp\u003EHorizon articles can be republished for free under the Creative Commons Attribution 4.0 International (CC BY 4.0) licence.\u003C\/p\u003E\n      \u003Cp\u003EYou must give appropriate credit. We ask you to do this by:\u003Cbr \/\u003E\n      1) Using the original journalist\u0027s byline\u003Cbr \/\u003E\n      2) Linking back to our original story\u003Cbr \/\u003E\n      3) Using the following text in the footer: This article was originally published in \u003Ca href=\u0027#\u0027\u003EHorizon, the EU Research and Innovation magazine\u003C\/a\u003E\u003C\/p\u003E\n      \u003Cp\u003ESee our full republication guidelines \u003Ca href=\u0027\/horizon-magazine\/republish-our-stories\u0027\u003Ehere\u003C\/a\u003E\u003C\/p\u003E\n      \u003Cp\u003EHTML for this article, including the attribution and page view counter, is below:\u003C\/p\u003E\u003Cdiv class=\u0022js-form-item form-item js-form-type-textarea form-item-body-content js-form-item-body-content ecl-form-group ecl-form-group--text-area form-no-label ecl-u-mv-m\u0022\u003E\n        \n\u003Cdiv\u003E\n  \u003Ctextarea data-drupal-selector=\u0022edit-body-content\u0022 aria-describedby=\u0022edit-body-content--description\u0022 id=\u0022edit-body-content\u0022 name=\u0022body_content\u0022 rows=\u00225\u0022 cols=\u002260\u0022 class=\u0022form-textarea ecl-text-area\u0022\u003E\u003Ch2\u003EBattle against fatal neurodegenerative disease advances on two fronts\u003C\/h2\u003E\u003Cp\u003EIn 2005, an American triathlete named Jon Blais was diagnosed with an incurable neurodegenerative disease known as amyotrophic lateral sclerosis, or \u003Ca href=\u0022https:\/\/www.orpha.net\/en\/disease\/detail\/803\u0022\u003EALS\u003C\/a\u003E. He was 33 years old.\u003C\/p\u003E\u003Cp\u003EGiven no more than five years to live, Blais set about ticking off his final bucket-list challenge: the annual \u201cIronman World Championship\u201d in the US state of Hawaii. In October 2005, six months after his diagnosis, he became the only person with ALS ever to cross the finish line.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003E\u003Cstrong\u003EGerman-Dutch duo\u003C\/strong\u003E\u003C\/p\u003E\u003Cp\u003EAt the following year\u2019s event, Blais was wheelchair-bound. By the time of the 2007 contest, he was dead.\u003C\/p\u003E\u003Cp\u003E\u2018It shows how ALS can hit anybody at any age,\u2019 said Professor Dieter Edbauer, a specialist in the cell biological mechanisms of neurodegeneration at the German Center for Neurodegenerative Diseases, or \u003Ca href=\u0022https:\/\/www.dzne.de\/en\/\u0022\u003EDZNE\u003C\/a\u003E. \u2018Current drugs can extend life only by a few months.\u2019\u003C\/p\u003E\u003Cp\u003EEdbauer leads a research project that received EU funding to develop a vaccine against the most common genetic variant of ALS. Called\u0026nbsp;\u003Ca href=\u0022https:\/\/cordis.europa.eu\/project\/id\/101057649\u0022\u003EGA-VAX\u003C\/a\u003E, the project began in 2022 and is due to run into 2025.\u003C\/p\u003E\u003Cp\u003EIn addition to the DZNE, GA-VAX includes a Dutch vaccine development and manufacturing company named Intravacc.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003EBased in a science park near Utrecht, Intravacc acts as a partner to organisations worldwide seeking to turn vaccine ideas into preventive and therapeutic breakthroughs.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003E\u003Cstrong\u003EFast killer\u003C\/strong\u003E\u003C\/p\u003E\u003Cp\u003EFirst identified in 1869, ALS is characterised by the progressive degeneration of nerve cells in the spinal cord and brain.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003EIt often begins with spasms, twitching or a weakness in an arm or leg before quickly affecting all muscles. Most commonly, ALS hits people aged between 40 and 70 and about \u003Ca href=\u0022https:\/\/www.targetals.org\/2022\/11\/22\/epidemiology-of-als-incidence-prevalence-and-clusters\/#:~:text=The%20authors%20estimate%20the%20current,is%20the%20increasingly%20aging%20population\u0022\u003Etwo people per every 100 000 worldwide\u003C\/a\u003E are newly diagnosed with the disease annually.\u003C\/p\u003E\u003Cp\u003E\u2018No one has ever been cured of ALS and life expectancy is typically just two to five years, which is far worse than most cancers,\u2019 said Edbauer.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003E\u003Cstrong\u003EEureka moment\u0026nbsp;\u003C\/strong\u003E\u003C\/p\u003E\u003Cp\u003EHe began his research career as a medical student working on cancer vaccines and later focused on the biology of Alzheimer\u2019s and Fragile X Syndrome \u2013 a genetic condition that causes intellectual disability. \u0026nbsp; \u0026nbsp;\u003C\/p\u003E\u003Cp\u003E\u003Cblockquote class=\u0022text-center text-blue font-bold text-2xl w-full lg:w-1\/2 border-2 border-blue p-12 my-8 lg:m-12 lg:-ml-16 float-left\u0022\u003E\n  \u003Cspan class=\u0022text-5xl rotate-180\u0022\u003E\u201c\u003C\/span\u003E\n  \u003Cp class=\u0022font-serif italic\u0022\u003EWe knew that ALS patients had a unique pathology.\u003C\/p\u003E\n  \u003Cfooter\u003E\n    \u003Ccite class=\u0022not-italic font-normal text-sm text-black\u0022\u003EProfessor Dieter Edbauer, GA-VAX\u003C\/cite\u003E\n  \u003C\/footer\u003E\n\u003C\/blockquote\u003E\n\u003C\/p\u003E\u003Cp\u003EThen, more than a decade ago, Edbauer turned his attention to ALS as a result of a Eureka moment tied to a discovery by scientists in the US of a rare gene mutation.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003EIn 2011, these researchers found a mutation in a gene called C9orf72 that acts as a trigger for a form of ALS now known as C9-ALS.\u003C\/p\u003E\u003Cp\u003EThe mutation occurs when a small part of the DNA for the C9orf72 gene is repeated hundreds of extra times. Edbauer discovered that this \u201crepeat expansion\u201d leads to the production of toxic proteins that contribute to neuron degeneration.\u003C\/p\u003E\u003Cp\u003E\u2018It was a crazy idea really, but we knew that ALS patients had a unique pathology,\u2019 he said. \u2018My hypothesis was that the C9orf72 repeat expansion could be translated into aggregating proteins, although this region of the gene is normally not translated at all.\u2019\u003C\/p\u003E\u003Cp\u003EEdbauer said that he and his colleagues made antibodies against these repeat proteins and were \u2018stunned\u2019 when labelling all the mysterious aggregates uniquely present in the brain and spinal cord of C9-ALS patients.\u003C\/p\u003E\u003Cp\u003EHe found that his antibodies could block toxicity of the repeat proteins in cell culture and realised his early work on cancer vaccines might be applicable to ALS.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003E\u003Cstrong\u003EVaccine hope\u003C\/strong\u003E\u003C\/p\u003E\u003Cp\u003EFast-forward to today and, through\u0026nbsp;GA-VAX, Edbauer is developing a vaccine that would prompt the immune system to produce antibodies against the most abundant of the harmful repeat proteins, called poly-GA.\u003C\/p\u003E\u003Cp\u003EThe planned vaccine has the potential to slow or even prevent the progression of ALS in C9-ALS patients, who account for between 5% and 10% of all cases of the disease.\u003C\/p\u003E\u003Cp\u003EPrevious results from a prototype vaccine in mice have been promising, according to Edbauer.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003E\u2018We have shown that the prototype vaccine reduces the aggregation of harmful proteins and inflammation in the brain, ultimately preserving neuron function,\u2019 he said.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003EWorking with Intravacc has helped Edbauer improve the prototype vaccine used in mice for eventual use in humans. Before then, several steps are still needed.\u003C\/p\u003E\u003Cp\u003EThese include tests to refine the vaccine formulation and dose. With safety and efficacy data, the team can apply to conduct clinical trials on patients genetically tested for C9-ALS.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003EThat could happen as soon as 2026, with an actual vaccine possible less than a decade later, according to Edbauer.\u003C\/p\u003E\u003Cp\u003E\u2018Maybe within five to 10 years it will become a more manageable disease,\u2019 he said.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003E\u003Cstrong\u003EBrain barrier\u003C\/strong\u003E\u003C\/p\u003E\u003Cp\u003EFarther north in Europe, a regenerative-drugs expert named Merja Voutilainen also has ALS in her sights.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003EAn associate professor of regenerative pharmacology at the University of Helsinki in Finland, Voutilainen led an EU-funded project that involved groundbreaking work into a treatment for the disease.\u003C\/p\u003E\u003Cp\u003EThe treatment involves proteins that can increase neuron survival, growth and repair and protect against toxins. These proteins are so-called neurotrophic factors.\u003C\/p\u003E\u003Cp\u003E\u003Cblockquote class=\u0022text-center text-blue font-bold text-2xl w-full lg:w-1\/2 border-2 border-blue p-12 my-8 lg:m-12 lg:-ml-16 float-left\u0022\u003E\n  \u003Cspan class=\u0022text-5xl rotate-180\u0022\u003E\u201c\u003C\/span\u003E\n  \u003Cp class=\u0022font-serif italic\u0022\u003EI really hope through this work we can both slow down the disease and, at least partially, cure it.\u003C\/p\u003E\n  \u003Cfooter\u003E\n    \u003Ccite class=\u0022not-italic font-normal text-sm text-black\u0022\u003EMerja Voutilainen, FutureTrophicFactors\u003C\/cite\u003E\n  \u003C\/footer\u003E\n\u003C\/blockquote\u003E\n\u003C\/p\u003E\u003Cp\u003EVoutilainen\u2019s project was called \u003Ca href=\u0022https:\/\/cordis.europa.eu\/project\/id\/805426\u0022\u003EFutureTrophicFactors\u003C\/a\u003E and wrapped up in January 2024 after five years. It focused on a way to deliver proteins with neurotrophic-factor properties to the brain.\u003C\/p\u003E\u003Cp\u003ETraditionally, these proteins are too big to cross the blood brain barrier \u2013 a protective filter in the brain that allows only certain substances to pass through. The barrier is basically the brain\u2019s natural defence against foreign invaders.\u003C\/p\u003E\u003Cp\u003EAs a result, for such proteins to be effective, they require the tricky task of being injected directly into the brain.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003E\u2018Brain injections are not easy to perform and not many doctors can do them,\u2019 said Voutilainen.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003E\u003Cstrong\u003EProtein pathway\u003C\/strong\u003E\u003C\/p\u003E\u003Cp\u003EIn\u0026nbsp;FutureTrophicFactors, Voutilainen and colleagues discovered smaller versions of proteins with neurotrophic-factor properties.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003EHer team showed that these versions, called \u201cfragments\u201d, are small enough to penetrate the blood brain barrier while retaining their effectiveness.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003E\u2018These fragments can cross the blood brain barrier, which is a breakthrough meaning they can be injected under the skin, like insulin, then go straight to the brain and the spinal cord,\u2019 Voutilainen said. \u2018They can be used for the treatment of neurodegenerative diseases such as ALS and Parkinson\u2019s.\u2019\u003C\/p\u003E\u003Cp\u003EPre-clinical trials in mice have shown that this treatment works, protecting and restoring motor neurons.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003EIn the wake of FutureTrophicFactors, the research team is preparing further preclinical trials on transgenic mice and rats to collect more data.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003EClinical testing on ALS patients could start during the next five years and the actual treatment might become available in five to 10 years, according to Voutilainen.\u003C\/p\u003E\u003Cp\u003EShe regards earlier, easier treatment as key to increasing the survival of neurons for people with ALS.\u003C\/p\u003E\u003Cp\u003E\u2018I really hope through this work we can both slow down the disease and, at least partially, cure it,\u2019 said Voutilainen. \u2018I\u2019m optimistic.\u2019\u003C\/p\u003E\u003Cp\u003E\u003Cem\u003EResearch in this article was funded by the EU\u2019s Horizon Programme including, in the case of GA-VAX, via the European Innovation Council (EIC) and in the case of FutureTrophicFactors via the European Research Council (ERC). The views of the interviewees don\u2019t necessarily reflect those of the European Commission. 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