{"id":157305,"date":"2024-08-13T13:42:13","date_gmt":"2024-08-13T19:42:13","guid":{"rendered":"https:\/\/www.globaldownsyndrome.org\/?p=157305"},"modified":"2024-08-13T13:42:46","modified_gmt":"2024-08-13T19:42:46","slug":"crnic-institute-clinical-trial-shows-jak-inhibitor-improves-multiple-autoimmune-conditions-in-patients-with-down-syndrome","status":"publish","type":"post","link":"https:\/\/www.globaldownsyndrome.org\/zh\/crnic-institute-clinical-trial-shows-jak-inhibitor-improves-multiple-autoimmune-conditions-in-patients-with-down-syndrome\/","title":{"rendered":"Crnic Institute Clinical Trial Shows JAK Inhibitor Improves Multiple Autoimmune Conditions in Patients with Down Syndrome"},"content":{"rendered":"

Denver, Aug. 13, 2024 (GLOBE NEWSWIRE) — The Global Down Syndrome Foundation (GLOBAL) is proud to support a\u00a0new study<\/a>\u00a0published in\u00a0eLIFE<\/i>\u00a0by researchers from its partner and Affiliate, the\u00a0\u7433\u8fbe-\u514b\u5c3c\u514b\u5510\u6c0f\u7efc\u5408\u75c7\u7814\u7a76\u6240<\/a>\u00a0(Crnic Institute) at the\u00a0University of Colorado Anschutz Medical Campus,<\/a>\u00a0that reports the initial results of a first-in-kind clinical trial testing the safety and efficacy of a JAK inhibitor to decrease the burden of autoimmune conditions in people with Down syndrome. The clinical trial, which is funded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases, is part of a portfolio of new clinical trials supported by the National Institutes of Health\u00a0INCLUDE Project<\/a>.<\/p>\n

Drawing upon their\u00a02016 discovery<\/a>\u00a0that the interferon response is constantly activated in people with Down syndrome, the team designed the trial to focus on the autoimmune and inflammatory skin conditions that are very common in people with Down syndrome including alopecia areata, psoriasis, atopic dermatitis, and hidradenitis suppurativa, and employed the JAK inhibitor tofacitinib (marketed as XELJANZ\u00ae<\/sup>, Pfizer). The study also monitored effects on co-occurring autoimmune conditions, such as autoimmune thyroid disease, celiac disease, and arthritis.<\/p>\n

\u201cIndividuals with Down syndrome are at a high risk of developing autoimmune skin conditions, which are often hard to treat and cause significant discomfort and decrease their quality of life,\u201d explains Dr. Emily Gurnee, assistant professor of dermatology, one of the dermatologists involved in the study, and a principal investigator in the trial. \u201cLimited data exist to guide conversations about treatment options for skin conditions common to individuals with Down syndrome. The findings from scientists at the Crnic Institute support the notion that JAK inhibitors are a valuable treatment not only for skin conditions but may benefit other autoimmune conditions prevalent in this population.\u201d<\/p>\n

\"\"<\/p>\n

The study team observed important improvements in skin pathology, with the most striking results observed for those affected by alopecia areata, as well as improvements in arthritis and decreased biomarkers of autoimmune thyroid disease. Most study participants chose to remain on the medicine, often through off-label prescriptions, after completion of trial activities.<\/p>\n

\u201cMost importantly, we observed that major inflammatory markers elevated in Down syndrome that are known to cause autoimmunity were brought down to the normal range with this medicine, indicating that the immune system is being calmed down by this JAK inhibitor, while preserving strong immune function,\u201d explains Dr. Joaqu\u00edn Espinosa, executive director of the Crnic Institute, professor of pharmacology, and one of the principal investigators in the clinical trial. \u201cMore data will be needed to define the safety profile of JAK inhibitors in Down syndrome, and we look forward to the completion of the trial and analysis of the full dataset.\u201d<\/p>\n

The study also reports the deepest characterization of the immune system dysregulation characteristic of Down syndrome to date through analysis of clinical data and biospecimens collected by the ongoing\u00a0Human Trisome Project<\/a>\u00a0study.<\/p>\n

The Crnic Institute team analyzed clinical data and blood samples to characterize the pattern of autoimmune conditions and accompanying inflammatory processes in hundreds of research participants in the Human Trisome Project using so called multi-omics technologies. They observed that triplication of chromosome 21, or trisomy 21, the genetic abnormality underlying Down syndrome, leads to rapid onset of diverse autoimmune conditions during childhood, along with increased levels of many inflammatory factors and strong dysregulation of multiple immune cell types.<\/p>\n

\u201cOne key observation is that elevation of multiple inflammatory markers and dysregulation of all branches of the immune system occurs from a very early age, even before any clinical manifestations of autoimmunity,\u201d says Dr. Matthew Galbraith, assistant research professor of pharmacology, director of the Data Sciences Program of the Crnic Institute and co-author of the study. \u201cThis points to a constitutive state of immune dysregulation triggered by the extra chromosome that eventually leads to the appearance of multiple autoimmune conditions, with variations in timing and severity among individuals.\u201d<\/p>\n

\u201cSince 2016 we have been hypothesizing that the class of medicines known as JAK inhibitors will provide therapeutic benefits in this population,\u201d explains Dr. Angela Rachubinski, assistant research professor of pediatrics, director of the Clinical and Translational Sciences Program at the Crnic Institute, lead author of the paper, and one of the principal investigators in the trial. \u201cAlthough JAK inhibitors have been approved for a range of autoimmune and inflammatory conditions in the general population, this clinical trial, which started activities back in 2020, provides the first systematic investigation of the effects of a JAK inhibitor in people with Down syndrome.”<\/p>\n

The Crnic Institute study team is already overseeing a\u00a0second trial<\/a>\u00a0testing the safety and efficacy of the JAK inhibitor relative to other medicines for treating the condition known as\u00a0Down Syndrome Regression Disorder<\/a>, and a\u00a0third trial<\/a>\u00a0focused on children with Down syndrome is expected to start recruitment in late 2024.<\/p>\n

\u201cWe are very grateful to the scientists and physicians at the Crnic Institute for their transformative research that is already translating into improved medical care and health outcomes for the amazing people with Down syndrome who we serve,\u201d says Michelle Sie Whitten, president & CEO of GLOBAL. \u201cWe are proud that GLOBAL\u2019s advocacy work with Congress and with the National Institutes of Health (NIH) has led to the establishment of the trans-NIH Down syndrome funding project, INCLUDE, that underwrites this and numerous other groundbreaking studies and clinical trials.\u201d<\/p>\n

\u00a0<\/b><\/p>\n

\u5173\u4e8e\u5168\u7403\u5510\u6c0f\u7efc\u5408\u75c7\u57fa\u91d1\u4f1a<\/b><\/p>\n

The Global Down Syndrome Foundation (GLOBAL) is the largest non-profit in the U.S. working to save lives and dramatically improve health outcomes for people with Down syndrome. GLOBAL has donated more than $32 million to establish the first Down syndrome research institute supporting over 400 scientists and over 2,500 patients with Down syndrome from 33 states and 10 countries. Working closely with Congress and the National Institutes of Health, GLOBAL is the lead advocacy organization in the U.S. for Down syndrome research and care. GLOBAL has a membership of over 100 Down syndrome organizations worldwide, and is part of a network of Affiliates \u2013 the\u00a0\u514b\u5c3c\u514b\u5510\u6c0f\u7efc\u5408\u75c7\u7814\u7a76\u6240<\/a>\uff0c\"......\u00a0Sie \u5510\u6c0f\u7efc\u5408\u75c7\u4e2d\u5fc3<\/a>, and the\u00a0\u79d1\u7f57\u62c9\u591a\u5927\u5b66\u963f\u5c14\u8328\u6d77\u9ed8\u6c0f\u75c7\u4e0e\u8ba4\u77e5\u4e2d\u5fc3<\/a>\u00a0\u2013 all on the Anschutz Medical Campus.<\/p>\n

GLOBAL \u5e7f\u6cdb\u53d1\u884c\u7684\u533b\u5b66\u51fa\u7248\u7269\u5305\u62ec\u00a0\u5510\u6c0f\u7efc\u5408\u5f81\u6210\u4eba\u5168\u7403\u533b\u7597\u6307\u5357<\/i><\/a>,\u00a0\u4ea7\u524d\u548c\u65b0\u751f\u513f\u5510\u6c0f\u7efc\u5408\u5f81\u4fe1\u606f<\/i><\/a>\u4ee5\u53ca\u83b7\u5956\u6742\u5fd7\u00a0\u5510\u6c0f\u7efc\u5408\u75c7\u4e16\u754c TM<\/i><\/a>. GLOBAL also organizes the\u00a0\u7f8e\u4e3d\u505a\u81ea\u5df1\u65f6\u88c5\u79c0<\/i><\/a>\u5168\u7403\u6700\u5927\u7684\u5510\u6c0f\u7efc\u5408\u75c7\u7b79\u6b3e\u6d3b\u52a8\u3002\u8bbf\u95ee\u00a0globaldownsyndrome.org<\/a>\u00a0\u5e76\u5728\u793e\u4ea4\u5a92\u4f53\u4e0a\u5173\u6ce8\u6211\u4eec\u00a0\u5728 Facebook \u4e0a<\/a>,\u00a0X<\/a>\u00a0\u548c\u00a0Instagram<\/a>.<\/p>\n

\u5173\u4e8e\u7433\u8fbe-\u514b\u5c3c\u514b\u5510\u6c0f\u7efc\u5408\u75c7\u7814\u7a76\u6240<\/b><\/p>\n

The Linda Crnic Institute for Down Syndrome is one of the only academic research centers fully devoted to improving the lives of people with Down syndrome through advanced biomedical research, spanning from basic science to translational and clinical investigations. Founded through the generous support and partnership of the Global Down Syndrome Foundation, the Anna and John J. Sie Foundation, and the University of Colorado, the Crnic Institute supports a thriving Down syndrome research program involving over 50 research teams across four campuses on the Colorado Front Range. To learn more, visit\u00a0www.crnicinstitute.org<\/a>\u00a0or follow us on Facebook and Twitter @CrnicInstitute.<\/p>\n

About the University of Colorado Anschutz Medical Campus<\/b><\/p>\n

The University of Colorado Anschutz Medical Campus\u00a0is a world-class medical destination at the forefront of transformative science, medicine, education\u00a0and patient care. The campus\u00a0encompasses\u00a0the University of Colorado health professional schools, more than 60 centers and institutes, and two nationally ranked independent\u00a0hospitals\u00a0–\u00a0UCHealth University of Colorado Hospital<\/a>\u00a0\u548c\u00a0Children’s Hospital Colorado<\/a>\u00a0\u2013\u00a0which see more than 2 million adult and pediatric patient visits yearly. Innovative, interconnected and highly collaborative, the University of Colorado Anschutz Medical Campus\u00a0delivers life-changing\u00a0treatments, patient care and professional training and conducts world-renowned research fueled by $705 million in research grants.\u00a0For more information, visit\u00a0www.cuanschutz.edu<\/a>.<\/p>\n

###<\/p>","protected":false},"excerpt":{"rendered":"

Denver, Aug. 13, 2024 (GLOBE NEWSWIRE) — The Global Down Syndrome Foundation (GLOBAL) is proud to support a\u00a0new study\u00a0published in\u00a0eLIFE\u00a0by researchers from its partner and Affiliate, the\u00a0Linda Crnic Institute for Down Syndrome\u00a0(Crnic Institute) at the\u00a0University of Colorado Anschutz Medical Campus,\u00a0that reports the initial results of a first-in-kind clinical trial testing the safety and efficacy of 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