薬物療法の現状と最近の試み—フリードライヒ運動失調症とマシャド・ジョセフ病を中心に

Advances in Neurological Therapeutics for Friedreich Ataxia and Machado-Joseph Disease

脊髄小脳変性症の根本的治療法は見出されておらず，小脳性運動失調に対する対症療法として，酒石酸プロチレリンとタルチレリン水和物が保険適用として認可されているのみである。近年病態解明が進み，その成果を踏まえて複数の臨床試験が実施されている。その有効性を評価するためのバイオマーカーの開発も進んでいる。本論では，フリードライヒ運動失調症およびマシャド・ジョセフ病に対する最近の薬物療法の試みについて紹介する。

Abstract

We reviewed advances in therapeutics for both Friedreich ataxia and Machado-Joseph disease. Various clinical trials have been carried out, mainly for Friedreich ataxia; however, the therapeutic reports from these trials have not provided much evidence for success. Some interesting clinical trials have been reported, and further developments are expected. Regenerative therapy using umbilical cord mesenchymal stem cells and a therapeutic study investigating a new pathomechanism in animal and/or cell culture studies were reported. We expect that these results will translate to therapeutic strategies for patients with these disorders. In addition, biomarkers play an important role when novel treatments are discovered and clinical trials are performed: hence at present, a number of biomarkers such as gait analysis by triaxial accelerometers and prism adaptation of hand-reaching movements, are being examined.