{"id":5068,"date":"2022-07-11T15:43:52","date_gmt":"2022-07-11T13:43:52","guid":{"rendered":"https:\/\/www.alpha1-deutschland.org\/?p=5068"},"modified":"2024-06-03T12:33:29","modified_gmt":"2024-06-03T10:33:29","slug":"03-2022-neues-aus-der-forschung","status":"publish","type":"post","link":"https:\/\/alpha1-deutschland.org\/en\/03-2022-neues-aus-der-forschung","title":{"rendered":"03\/2022: News from research"},"content":{"rendered":"
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Alpha1 Germany e. V.<\/b><\/p>\n<\/div>\n\n\n\n

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This newsletter is dedicated entirely to research today. The US National Library of Medicine lists 129 studies for the search term "Alpha-1 Antitrypsin Deficiency" alone. The development of new technologies has progressed rapidly in recent years. We all hope that someone will finally find the "pill" for our genetic defect. We know all too well that this takes time\u2014and people who actively participate in studies.<\/p>\n

Therefore, a big thank you to all researchers and study participants!<\/strong><\/span><\/p>\n<\/div>\n\n\n\n

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Arrowhead\/Takeda celebrates initial successes in Alpha-1 liver patients<\/span><\/h2>\n<\/div>\n\n\n\n
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Patients with severe alpha-1 antitrypsin deficiency of the Pi*ZZ genotype face a double disease burden. The misfolded Z-AAT protein cannot be metabolized from the liver, accumulates there, and leads to so-called proteotoxic stress. The lack of AAT in the blood then leads to accelerated lung tissue degradation. While the missing AAT can be replaced with augmentation therapy, there is no approved drug option for the liver disease. A recent study, primarily conducted in Germany, offers hope. What is it about? In the study, the working copies required for the production of AAT, also known as mRNA, were neutralized using a siRNA called fazirsiran, thereby inhibiting AAT production. siRNAs represent a relatively new therapeutic approach. In recent years, four different drugs based on this principle have already been approved for other diseases.<\/p>\n

The Fazirsiran-Arrowhead study was in The New England Journal of Medicine<\/a>\u2018The study was published in ', one of the world's most prestigious medical journals. In the study, fazirsiran was administered to a total of 16 participants. Four participants received the lower dose (100 mg), the others the higher dose (200 mg). The results showed that fazirsiran administration led to a >80%igen reduction in the mutated Z-AAT protein in both blood and liver tissue. Furthermore, liver function normalized. During the one-year observation period, lung function remained stable, and no serious adverse events were observed that would have necessitated study termination.<\/p>\n

The study's lead researcher, Professor Strnad, explains: "This study offers patients with liver involvement hope for drug therapy for the first time. While some questions still need to be answered before approval, it is already possible to receive siRNA therapy within the framework of registration trials. Other attractive features of fazirsiran include its liver-specific mechanism of action and its long duration of action (it is administered as a subcutaneous injection every 12 weeks). Please feel free to contact us if you have any further questions."\u201e<\/p>\n

Alpha1 Team of the UK Aachen under the direction of PD Pavel Strnad<\/em><\/p>\n<\/div>\n\n\n\n

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Let's stick with the liver: <\/span><\/h2>\n<\/div>\n\n\n\n
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Vertex is also seeing initial successes: Vertex announces achievement of primary endpoint in Phase 2 study of VX-864 in Alpha-1 Antitrypsin Deficiency<\/a><\/p>\n

A similar technology is also used in Z-Factor<\/a> from Cambridge, the study design is here<\/a> to read.<\/p>\n

The press releases also give our liver patients hope for further treatment options.<\/p>\n<\/div>\n\n\n\n

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Smartphone app for COPD patients<\/span><\/h2>\n<\/div>\n\n\n\n
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To maintain the rehabilitation effects achieved through hard work during inpatient rehabilitation, an active lifestyle must be established in the patient's daily life in the long term. However, those affected often find it difficult to maintain physical activity and performance at home and to integrate physical training into their daily routine. Studies have repeatedly shown that an active lifestyle is of great importance in COPD: Survival rates are closely associated with the level of physical activity (Watz et al. ERJ 2009, Waschki et al. Chest 2011<\/a>).<\/p>\n

Seeking a solution to this problem, Kaia Heath developed the Kaia COPD app for smartphones and tablets. It consists of three modules: physical training, relaxation, and educational content, which can be accessed anytime as videos and text in a chat format. Detailed instructions are provided for the training content, allowing users to easily replicate the exercises at home.<\/p>\n

To examine the app's effectiveness, a study was conducted that included COPD Gold II to IV patients at the end of inpatient rehabilitation or follow-up treatment in Germany (Sch\u00f6n Klinik Berchtesgadener Land) and Switzerland (Z\u00fcrcher RehaZentren).Spielmanns et al. Thorax 2022<\/a>Patients were randomly assigned to an intervention group (using the app for 6 months and receiving a watch to measure activity) and a control group (not using the app but receiving a watch). Particular attention was paid to physical activity in the results, as it is of special importance to the individual.<\/p>\n

A total of 60 participants completed the study. Physical activity, measured by the number of steps taken daily, remained stable in the intervention group, while it deteriorated in the control group. The difference between the two groups was significant and clinically relevant for the patients. Symptoms, as assessed by the COPD Assessment Test and the Chronic Respiratory Disease Questionnaire (subdomain "dyspnea"), improved only in the intervention group. Interestingly, compliance with the app was very high: 80 participants used the app on at least 60 days (corresponding to an average of 2.5 training days per week), and 67 participants used it on at least 90 days (3.75 training days per week).<\/p>\n

These research findings show that using the Kaia COPD app following rehabilitation can maintain physical activity and provides patients with a useful guide to positively adapt their lifestyle, taking into account the limitations imposed by the disease. The app could therefore be an important additional tool for improved COPD treatment and rehabilitation aftercare in the future.<\/p>\n

The Kaia COPD app is currently undergoing evaluation. DiGA<\/a>, in order to be tested as a digital health application and to receive approval from health insurance companies.<\/p>\n

Dr. Inga Jarosch, Sch\u00f6n Clinic Berchtesgadener Land, Sch\u00f6nau<\/em><\/p>\n<\/div>\n\n\n\n\n\t\t\t<\/div> \n\t\t<\/div>\n\t<\/div> \n<\/div><\/div>\n\t\t

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Even though many Alpha-1 experts have already done it this way, we are pleased to now see it in black and white:<\/p>\n

Testing for alpha-1 antitrypsin deficiency: a serum level alone is not enough!<\/strong><\/p>\n

It is important to note that serum levels can more than double during inflammation, infection, or injury, and individuals with PiMZ or PiMS may have serum levels similar to those of healthy individuals (PiMM). Therefore, as an international study from 2021 demonstrates, protein levels alone should not be the sole indicator of AAT deficiency. The authors recommend additional genetic testing in all suspected cases.<\/p>\n

The paper, published in Journal of the COPD foundation<\/a>, Our member, Dr. Stutzenberger, brought this to our attention.<\/p>\n<\/div>\n\n\n\n\n\t\t\t<\/div> \n\t\t<\/div>\n\t<\/div> \n<\/div><\/div>\n\t\t

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Alpha-1 antitrypsin deficiency and COVID-19:<\/span><\/h2>\n<\/div>\n\n\n\n
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In March 2021, a 19-item survey was sent to 420 patients with AATD who were being treated with AAT replacement therapy (Prolastin) and participating in the German AlphaCare patient program. Results were published in the journal Pneumologie on June 20, 2022. Impact of the COVID-19 pandemic on information management and adherence to AAT replacement therapy in patients with alpha-1 antitrypsin deficiency (AATD)<\/a><\/p>\n

The results will likely not surprise those with Alpha-1 disease, and they show us: we do many things intuitively right!<\/p>\n<\/div>\n\n\n\n

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Further research updates:<\/span><\/h2>\n

The news from America offers hope for those on substitution therapy: \u201eThis week from Inhibrx <\/strong>The published update on its recombinant alpha-1 antitrypsin (INBRX-101) is exciting news for the alpha-1 community. The possibility of once-monthly administration of alpha-1 antitrypsin could be a very important advance in the treatment of individuals with alpha-1 antitrypsin deficiency. \u201cWe are pleased with the positive progress in their research and look forward to the completion of the development of this novel treatment for alphas through Inhibrx,\u201d said Mark Brantly, MD, Scientific Director, Alpha-1 Foundation.<\/p>\n

You can find more details on the Foundation website<\/a> or at Inhibrx<\/a>.<\/p>\n

Also Intellia <\/strong>belongs to the pharmaceutical companies that deal with alpha-1 antitrypsin. Our member Ms. Sieber provided us with the following information: In your Press release<\/a> Intellia gives us hope that a CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats)-based candidate (NTLA-3001) has been found for the development of targeted in vivo gene insertion to treat AATD-associated lung diseases. It is designed to precisely insert a healthy copy of the SERPINA1 gene to achieve a therapeutic level of sustained expression of the functional A1AT protein after a single dose. Here<\/a> to read.<\/p>\n<\/div>\n\n\n\n

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Research takes time.<\/span><\/h2>\n<\/div>\n\n\n\n
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Please note that we are talking about research here \u2014 much of it is still a future vision, but some of it is already almost tangible: Research takes time.<\/strong>.<\/p>\n

We want to share our hope for new therapies with you, but also point out that the phases leading up to approval are essential \u2013 for the patient's safety! You can read about the different phases of studies and what they mean in the upcoming Alpha1 Journal, which will arrive soon.<\/p>\n

We would like to draw your attention once again to the video recorded after the members' meeting by our advisory board member, Dr. Alexander Rupp: Specific treatment for Alpha-1, COPD and asthma<\/a> and on to the recently released episode 9, 'Alpha1 & Children', of our Podcasts<\/a>, this time with our advisory board member Dr. R\u00fcdiger Kardorff.<\/p>\n

Until new therapies become available, one thing has been proven to be absolutely essential for us Alpha-1 patients: exercise!<\/p>\n

Enjoy the summer, recharge your batteries and continue to stay away from Corona!<\/p>\n<\/div>\n\n\n\n\n\t\t\t<\/div> \n\t\t<\/div>\n\t<\/div> \n<\/div><\/div>","protected":false},"excerpt":{"rendered":"AutorIn Alpha1 Deutschland e. V. Dieser Newsletter widmet sich heute mal ganz der Forschung. In der U.S. National Library of Medicin finden sich allein f\u00fcr den Suchbegriff \u201aAlpha-1-Antitrypsin Deficiency\u2018 129...","protected":false},"author":1,"featured_media":5069,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1,21],"tags":[],"class_list":["post-5068","post","type-post","status-publish","format-standard","has-post-thumbnail","category-allgemein","category-newsletter"],"yoast_head":"\n03\/2022: Neues aus der Forschung - Ihr Online Portal f\u00fcr Mitglieder und Interessierte<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/alpha1-deutschland.org\/en\/03-2022-neues-aus-der-forschung\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"03\/2022: Neues aus der Forschung - 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