Investigative and emerging treatments for Batten disease

Introduction: The neuronal ceroid lipofuscinoses (NCLs, or Batten disease) are a group of inherited neurodegenerative storage disorders that mostly affect children and young adults. Because no effective therapies are currently available, all prove fatal after a period of prolonged disability. Areas covered: This review details the progress toward devising experimental therapies for the different forms of NCL. These approaches differ according to whether the gene defects are in soluble lysosomal enzymes or transmembrane proteins, but include enzyme replacement, gene therapy, neural stem cell approaches and small-molecule treatments. Not knowing the function of many of the gene products hampers the ability to produce a mechanisticbased therapy, especially in transmembrane-deficient forms of NCL. Expert opinion: Promising progress has been made in preclinical studies for several forms of NCL, which has led to the initiation of clinical trials of several different experimental therapies. Nevertheless, challenges remain in how such preclinical advances can be translated successfully into a clinical setting. As new data about pathogenesis emerge it is likely that combination therapies that target different regions of the brain and/or body or different parts of the pathological cascade will be needed.