{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T02:20:48Z","timestamp":1723256448878},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2020,3,16]],"date-time":"2020-03-16T00:00:00Z","timestamp":1584316800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,3,16]],"date-time":"2020-03-16T00:00:00Z","timestamp":1584316800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nervenarzt"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title><jats:p>In Deutschland leiden derzeit mindestens 8000, vermutlich aber sogar bis zu ca.\u00a014.000 Menschen an einer klinisch apparenten (\u201emanifesten\u201c) Huntington-Krankheit (HK). Zudem tragen sch\u00e4tzungsweise 24.000 Deutsche die der HK zugrunde liegende Mutation im <jats:italic>Huntingtin<\/jats:italic>-(<jats:italic>HTT<\/jats:italic>)-Gen und werden im Laufe ihres Lebens an der HK erkranken. Obwohl die HK eine seltene neurodegenerative Erkrankung ist, steht sie gegenw\u00e4rtig im Fokus eines allgemeinen medizinischen Interesses: Klinische Studien, die eine rationale Basis f\u00fcr die Hoffnung bilden, das bislang unaufhaltsame, schicksalhafte Fortschreiten der Erkrankung bis zur vollst\u00e4ndigen Pflegebed\u00fcrftigkeit bremsen und \u2013 bei rechtzeitigem Behandlungsbeginn \u2013 eventuell sogar die klinische Manifestation der HK mitigieren zu k\u00f6nnen, haben begonnen. Diese innovativen Therapieans\u00e4tze sind darauf ausgerichtet, die Nachbildung mutierter <jats:italic>HTT<\/jats:italic>-Gen-Produkte zu hemmen. Eine erste klinische Arzneimittelpr\u00fcfung zum Nachweis der Wirksamkeit (Phase\u00a0III) intrathekaler Antisense-Oligonukleotide (ASO, Wirkstoff RG6042) hat 2019 begonnen. Klinische Studien zu weiteren, alternativen Behandlungsans\u00e4tze mit allelselektiven ASOs sowie zu gentherapeutischen Ans\u00e4tzen mit RNA-Molek\u00fclen und Zinkfinger-Repressor-Komplexen stehen kurz bevor. In dem vorliegenden Artikel geben wir einen \u00dcberblick \u00fcber die gegenw\u00e4rtig diskutierten genselektiven Therapieans\u00e4tze bei der HK.<\/jats:p>","DOI":"10.1007\/s00115-020-00882-4","type":"journal-article","created":{"date-parts":[[2020,3,16]],"date-time":"2020-03-16T13:07:23Z","timestamp":1584364043000},"page":"303-311","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Genselektive Therapieans\u00e4tze bei der Huntington-Krankheit"],"prefix":"10.1007","volume":"91","author":[{"given":"A.","family":"M\u00fchlb\u00e4ck","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. 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Vortragshonorar von Desitin. Nichtfinanzielle Unterst\u00fctzung (Erstattung von Reise- und Unterbringungskosten) von Actelion, EHDN sowie ein Honorar f\u00fcr wissenschaftliche Beratung von TEVA. K.S.\u00a0Lindenberg: Ihre Institution, die Abteilung Neurologie der Universit\u00e4t Ulm, hat im Kontext klinischer Medikamentenpr\u00fcfungen Zuwendungen von folgenden Unternehmen erhalten: CHDI Foundtation, Hoffmann-La Roche, Isis (IONIS) und Teva. C.\u00a0Saft: institutionelle Kompensation zur Durchf\u00fchrung von Studien, Erstattung von Reise- und Unterbringungskosten von IONIS Pharmaceuticals und Roche AG. Honorare f\u00fcr Vortr\u00e4ge von Teva Pharma GmbH, nichtfinanzielle Unterst\u00fctzung (Erstattung von Reise- und Unterbringungskosten) und institutionelle Kompensation im Kontext der ENROLL-HD Studie (CHDI), PRIDE-HD (TEVA), LEGATO (TEVA), und Amaryllis (Pfizer), sowie Gelder zur Durchf\u00fchrung von Forschung von Biogen (alle au\u00dferhalb des vorliegenden Manuskripts). Angestellter bei der Neurologischen Klinik des Katholischen Klinikums Bochum. J.\u00a0Priller: Studienteilnahme bei EHDN, CHDI, Ionis\/Roche, Reisekosten\u00fcbernahme bei Investigator meetings, Vortragshonorar von Desitin. Keinen direkten Interessenskonflikt wegen Mitgliedschaft bei der DGPPN, DGGPP, DGBP, DZNE, IGSLI. Patent bei Epomedics, eine wissenschaftliche Kooperation bei Neurimmune und eine Beratert\u00e4tigkeit bei Axon. Angestellt bei der Charit\u00e9 Berlin in der Klinik f\u00fcr Psychiatrie und Psychotherapie. G.B.\u00a0Landwehrmeyer: Drittmittel von folgenden Geldgebern\/Einrichtungen: CHDI, EU (FP6&7), BMBF, JPND und DFG. Wissenschaftliche Beratung bzw. Mitgliedschaft in einem \u201aScientific Advisory Board\u2018 f\u00fcr affiris, AOP Orphan, Bayer, CHDI Foundation, Desitin, Hoffmann-LaRoche, Lundbeck, Isis (IONIS), NeuraMetrix, Novartis, PTC, Sage Therapeutics, Teva, Triplet TX, Wave. Im Kontext klinischer Medikamentenpr\u00fcfungen hat seine Institution, die Abteilung Neurologie der Universit\u00e4t Ulm, Zuwendungen von Allergan, Ionis, Hoffmann-LaRoche, Pfizer, Teva. Royalties von Oxford University Press.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}},{"value":"F\u00fcr diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgef\u00fchrt. F\u00fcr die aufgef\u00fchrten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}}]}}