Therapie hereditärer degenerativer Myopathien

Zusammenfassung

Hereditäre degenerative Myopathien sind progrediente Erkrankungen des Muskels, die auf unterschiedliche genetische Ursachen zurückzuführen sind. Bislang gibt es in der klinischen Praxis kaum kausale Therapiemöglichkeiten für diese Erkrankungen. Durch enorme Fortschritte in der Grundlagenforschung und einem verbesserten Verständnis der Pathophysiologie haben sich in letzter Zeit jedoch einige neue therapeutische Ansätze für hereditäre Myopathien ergeben. Neue Therapieansätze, die auf molekulargenetischen Prinzipien beruhen, wie zum Beispiel Stop-Codon Readthrough durch den Wirkstoff PTC124 oder Exon-Skipping mit Antisense-Oligonukleotiden werden bereits in klinischen Studien bei Patienten mit Muskeldystrophie Duchenne angewandt. Oft stellt jedoch die unkoordinierte und inkomplette klinische Testung neuer therapeutischer Optionen ein Nadelöhr auf dem Weg vom Labor zum Patienten dar. Gut geplante und koordinierte internationale klinische Studien sind deshalb wünschenswert und in einigen Fällen bereits in Planung. Wir berichten zusammenfassend über aktuelle pharmakotherapeutische Maßnahmen bei Patienten mit hereditären Myopathien, wie die Anwendung von Kortikosteroiden, Wachstumsfaktoren und Nahrungsergänzungsmitteln, und supportive Maßnahmen.

Abstract

Hereditary myopathies are progressive muscle disorders caused by a wide range of different genetic defects. Very few causal therapeutic options are available in clinical practice. However, major advances in basic science and an improved pathophysiological understanding have led to several new therapeutic options for hereditary myopathies. New therapeutic strategies based on molecular genetics, like stop codon read-through using the agent PTC124 or exon-skipping through antisense-oligonucleotides, are currently being tested in clinical trials in patients with Duchenne muscular dystrophy. However, uncoordinated and incomplete clinical testing of new treatments often delays the progress from bench to bedside. Well planned and coordinated clinical trials are therefore desirable and in some cases already in the planning stage. Here, we summarise current pharmacotherapeutic treatment options for patients with hereditary myopathies, like the use of corticosteroids, growth factors and dietary supplements, and supportive treatment options.

Schlüsselwörter

Muskeldystrophie - hereditäre Myopathien - Therapie

Keywords

muscular dystrophy - hereditary myopathies - treatment

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