在尼曼·皮克病C型中对N-乙-l-氨酸的试验

Tatiana Bremova-Ertl1, Uma Ramaswami1, Marion Brands1

  • 1From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).

概括

在12周内,N-乙-l-氨酸 (NALL) 在尼曼-皮克病C型患者中改善了神经功能. 这项研究表明,NALL是这种罕见的溶酶体储存障碍的安全有效治疗方法.