NIH R01 · 2025
Project Summary/Abstract: CLN1 disease or Infantile Neuronal Ceroid Lipofuscinosis (INCL or Infantile Batten disease) is one of the earliest onset and most rapidly progressing forms of neuronal ceroid lipofuscinosis (NCL or Batten disease). CLN1 disease is caused by deficiency in the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1). This deficiency has a devastating and rapidly progressing effect upon affected children that starts within the first year of life, and because there is no effective therapy available CLN1 disease is always fatal. We have been able to dramatically improve therapeutic outcomes in PPT1-deficient mice by targeting adeno-associated viral (AAV)-mediated gene…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.