Gentherapien bei den Motoneuronerkrankungen ALS und SMA

Zusammenfassung

Die Diagnose von Motoneuronerkrankungen wie Amyotrophe Lateralsklerose (ALS) und 5q-assoziierte Spinale Muskelatrophie (SMA) bedeuteten in der Vergangenheit schicksalshafte Machtlosigkeit gegenüber scheinbar unbehandelbaren Erkrankungen mit schwersten motorisch-funktionellen Einschränkungen und teils fatalen Krankheitsverläufen. Jüngste Fortschritte im Verständnis der genetischen Kausalitäten dieser Erkrankungen kombiniert mit Erfolgen in der Entwicklung von gezielten Gentherapiestrategien bewirken eine hoffnungsvolle Wende hin zu erstmals effektiven, innovativen Therapiekonzepten gleichsam als Pionier in der Behandlungsfähigkeit neurodegenerativer Erkrankungen. Während für die SMA seit wenigen Jahren Gentherapien bereits zugelassen werden konnten, befindet sich die Gentherapieerforschung bei der ALS mit ermutigenden Resultaten noch in der klinischen Prüfung. Dieser Artikel gibt einen Überblick über die bisher bekannten genetischen Hintergründe von ALS und SMA sowie deren Gentherapie-Ansätze mit Fokus auf Therapiekandidaten, die sich in klinischen Prüfungen befinden oder bereits die Markzulassung erworben haben.

Abstract

In the past, the diagnosis of motor neuron diseases such as amyotrophic lateral sclerosis (ALS) and 5q-associated spinal muscular atrophy (SMA) meant powerlessness in the face of seemingly untreatable diseases with severe motor-functional limitations and sometimes fatal courses. Recent advances in an understanding of the genetic causalities of these diseases, combined with success in the development of targeted gene therapy strategies, spell hope for effective, innovative therapeutic approaches, pioneering the ability to treat neurodegenerative diseases. While gene therapies have been approved for SMA since a few years, gene therapy research in ALS is still in clinical trials with encouraging results. This article provides an overview of the genetic background of ALS and SMA known to date and gene therapy approaches to them with a focus on therapy candidates that are in clinical trials or have already gained market approval.

Schlüsselwörter

Gentherapie - Motoneuronerkrankungen - ALS - SMA

Key words

gene therapy - motor neuron diseases - ALS - SMA

Publication History

Received: 07 October 2022

Accepted: 12 December 2022

Article published online:
23 February 2023

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