Spezifische Gentherapie bei erblichen Netzhauterkrankungen – ein Update

Zusammenfassung

Therapiemöglichkeiten sind auf der Basis der spezifischen Gentherapie für einen Teil der Patienten mit erblichen Netzhautdegenerationen Realität geworden und werden momentan in verschiedenen klinischen Versuchen getestet. Am weitesten fortgeschritten ist die Behandlung von Patienten mit Mutationen im RPE65-Gen. Weitere Studien laufen mit Patienten, die krankheitsauslösende Mutationen im MERTK-, im REP1-, im ABCA4-, und im Myosin7A-Gen aufweisen. Aufgrund der unterschiedlichen Größe der zu transferierenden Genkopien werden Vektoren basierend auf adenoassoziierten Viren (AAV) oder Lentiviren (EIAV, equine infectious anemia virus) genutzt. Ein wichtiger Forschungsbereich umfasst die objektivierbare Messung des therapeutischen Effekts, da dies bisher nur unzureichend möglich ist. Dieser Artikel soll ein Update zur Situation in der spezifischen Gentherapie für erbliche Netzhautdegenerationen bieten.

Abstract

Treatment possibilities based on specific gene therapy strategies have become reality for a small number of patients with hereditary retinal dystrophies and are currently under investigation in several clinical trials worldwide. The most advanced studies are for patients suffering from mutations in the RPE65 gene. In addition, studies are ongoing for patients with disease causing mutations in the MERTK, REP1, ABCA4, or Myosin7A gene. Depending on the size of the gene copy to be transferred, two vectors are currently used in clinical trials: vectors based on adeno-associated virus (AAV) or on lentivirus (equine infectious anaemia virus, EIAV). An important aspect of current research includes the capacity to objectively measure the treatment effect in patients, since this is currently limited. This article gives an overview of the current state of specific gene therapy for hereditary retinal dystrophies.

Schlüsselwörter

Genetik - Retina - Gentherapie - AAV - Lentivirus - klinische Studien

Key words

genetics - retina - gene therapy - AAV - lentivirus - clinical studies

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