Method for treating autosomal recessive BESTROPHIN disease and evaluation method of autosomal recessive BESTROPHIN disease

• Main Authors: JACOBSON STUART G, AGUIRRE, GEORGE, D, GUZIEWICZ KEITH E, SIDDECIYAN ARTO V, BELTRAN WILLIAM A
• Format: Patent
• Language: Chinese; English
• Published: 30.12.2022
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS THEREOF; CULTURE MEDIA; ENZYMOLOGY; METALLURGY; MICROBIOLOGY; MICROORGANISMS OR ENZYMES; MUTATION OR GENETIC ENGINEERING; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS; SPIRITS; VINEGAR; WINE

Provided herein are methods of treating bestrophin disease, and methods of treating bestrophin disease. The methods comprise administering to an eye of a subject a dose of a recombinant adeno-associated virus (rAAV) vector comprising a nucleic acid sequence encoding a human BEST1 protein, wherein the subject has two mutated BEST1 alleles. Methods of assessing treatment of retinal degeneration are also provided. 本文提供了治疗bestrophin病的方法。所述方法包括向受试者的眼睛施用一定剂量的包含编码人BEST1蛋白的核酸序列的重组腺相关病毒(rAAV)载体，其中所述受试者具有两个突变的BEST1等位基因。还提供了评估视网膜变性治疗的方法。