Journal: Clinical and Experimental Pediatrics

Article Title: Development of orphan drugs for rare diseases

doi: 10.3345/cep.2023.00535

Figure Lengend Snippet: FDA/EMA approved gene therapy product for rare monogenic diseases

Article Snippet: For instance, an autologous CD34+-enriched cell fraction, Strimvelis (GlaxoSmithKline plk, London, UK), which contains CD34+ cells transduced with a retroviral vector that encodes the human ADA cDNA sequence for ADA deficiency (introduced in 2016), and voretigene neparvovec-rzyl (Luxturna, Spark Therapeutics, Philadelphia, USA), for retinal dystrophy caused by mutations in the RPE65 gene, were approved by the FDA in 2017 at a cost of $850,000 per eye [ ].

Techniques: Plasmid Preparation, In Vivo, Ex Vivo, Mutagenesis, Modification, Variant Assay